Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:Frem1'

608483

Institutional Source

Beutler Lab

Gene Symbol

Frem1

Ensembl Gene

ENSMUSG00000059049

Gene Name

Fras1 related extracellular matrix protein 1

Synonyms

eyes2, crf11, eye, QBRICK, heb

MMRRC Submission

045929-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R7877 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82816157-82970576 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 82932049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071708] [ENSMUST00000071708] [ENSMUST00000071708] [ENSMUST00000107230] [ENSMUST00000107230] [ENSMUST00000107230] [ENSMUST00000170248] [ENSMUST00000170248] [ENSMUST00000170248]

AlphaFold

Q684R7

Predicted Effect

probably null
Transcript: ENSMUST00000071708

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	364	508	1.7e-37	PFAM
Pfam:Cadherin_3	509	623	3.7e-18	PFAM
Pfam:Cadherin_3	592	709	8.4e-16	PFAM
Pfam:Cadherin_3	746	894	4.8e-26	PFAM
Pfam:Cadherin_3	863	1009	2.8e-30	PFAM
Pfam:Cadherin_3	1024	1115	6.4e-13	PFAM
Pfam:Cadherin_3	1119	1252	1.4e-17	PFAM
Pfam:Cadherin_3	1243	1393	8.2e-35	PFAM
Pfam:Cadherin_3	1378	1506	2e-22	PFAM
Pfam:Cadherin_3	1506	1616	1e-29	PFAM
Pfam:Cadherin_3	1617	1744	1.5e-14	PFAM
Pfam:Calx-beta	1749	1848	2.6e-10	PFAM
low complexity region	1894	1910	N/A	INTRINSIC
CLECT	2065	2188	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000071708

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	364	508	1.7e-37	PFAM
Pfam:Cadherin_3	509	623	3.7e-18	PFAM
Pfam:Cadherin_3	592	709	8.4e-16	PFAM
Pfam:Cadherin_3	746	894	4.8e-26	PFAM
Pfam:Cadherin_3	863	1009	2.8e-30	PFAM
Pfam:Cadherin_3	1024	1115	6.4e-13	PFAM
Pfam:Cadherin_3	1119	1252	1.4e-17	PFAM
Pfam:Cadherin_3	1243	1393	8.2e-35	PFAM
Pfam:Cadherin_3	1378	1506	2e-22	PFAM
Pfam:Cadherin_3	1506	1616	1e-29	PFAM
Pfam:Cadherin_3	1617	1744	1.5e-14	PFAM
Pfam:Calx-beta	1749	1848	2.6e-10	PFAM
low complexity region	1894	1910	N/A	INTRINSIC
CLECT	2065	2188	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000071708

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	364	508	1.7e-37	PFAM
Pfam:Cadherin_3	509	623	3.7e-18	PFAM
Pfam:Cadherin_3	592	709	8.4e-16	PFAM
Pfam:Cadherin_3	746	894	4.8e-26	PFAM
Pfam:Cadherin_3	863	1009	2.8e-30	PFAM
Pfam:Cadherin_3	1024	1115	6.4e-13	PFAM
Pfam:Cadherin_3	1119	1252	1.4e-17	PFAM
Pfam:Cadherin_3	1243	1393	8.2e-35	PFAM
Pfam:Cadherin_3	1378	1506	2e-22	PFAM
Pfam:Cadherin_3	1506	1616	1e-29	PFAM
Pfam:Cadherin_3	1617	1744	1.5e-14	PFAM
Pfam:Calx-beta	1749	1848	2.6e-10	PFAM
low complexity region	1894	1910	N/A	INTRINSIC
CLECT	2065	2188	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107230

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
internal_repeat_1	296	967	9.01e-39	PROSPERO
internal_repeat_1	1026	1705	9.01e-39	PROSPERO
Pfam:Calx-beta	1730	1829	6.7e-10	PFAM
low complexity region	1875	1891	N/A	INTRINSIC
CLECT	2046	2169	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107230

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
internal_repeat_1	296	967	9.01e-39	PROSPERO
internal_repeat_1	1026	1705	9.01e-39	PROSPERO
Pfam:Calx-beta	1730	1829	6.7e-10	PFAM
low complexity region	1875	1891	N/A	INTRINSIC
CLECT	2046	2169	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107230

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
internal_repeat_1	296	967	9.01e-39	PROSPERO
internal_repeat_1	1026	1705	9.01e-39	PROSPERO
Pfam:Calx-beta	1730	1829	6.7e-10	PFAM
low complexity region	1875	1891	N/A	INTRINSIC
CLECT	2046	2169	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170248

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	365	509	1.3e-37	PFAM
Pfam:Cadherin_3	510	623	4.5e-18	PFAM
Pfam:Cadherin_3	593	711	6.1e-16	PFAM
Pfam:Cadherin_3	728	876	2.7e-27	PFAM
Pfam:Cadherin_3	845	991	2.1e-30	PFAM
Pfam:Cadherin_3	1006	1097	4.8e-13	PFAM
Pfam:Cadherin_3	1101	1234	1e-17	PFAM
Pfam:Cadherin_3	1225	1375	6.1e-35	PFAM
Pfam:Cadherin_3	1360	1488	1.5e-22	PFAM
Pfam:Cadherin_3	1488	1598	7.5e-30	PFAM
Pfam:Cadherin_3	1599	1726	1.1e-14	PFAM
Pfam:Calx-beta	1731	1830	6.4e-10	PFAM
low complexity region	1876	1892	N/A	INTRINSIC
CLECT	2047	2170	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170248

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	365	509	1.3e-37	PFAM
Pfam:Cadherin_3	510	623	4.5e-18	PFAM
Pfam:Cadherin_3	593	711	6.1e-16	PFAM
Pfam:Cadherin_3	728	876	2.7e-27	PFAM
Pfam:Cadherin_3	845	991	2.1e-30	PFAM
Pfam:Cadherin_3	1006	1097	4.8e-13	PFAM
Pfam:Cadherin_3	1101	1234	1e-17	PFAM
Pfam:Cadherin_3	1225	1375	6.1e-35	PFAM
Pfam:Cadherin_3	1360	1488	1.5e-22	PFAM
Pfam:Cadherin_3	1488	1598	7.5e-30	PFAM
Pfam:Cadherin_3	1599	1726	1.1e-14	PFAM
Pfam:Calx-beta	1731	1830	6.4e-10	PFAM
low complexity region	1876	1892	N/A	INTRINSIC
CLECT	2047	2170	2.25e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170248

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	365	509	1.3e-37	PFAM
Pfam:Cadherin_3	510	623	4.5e-18	PFAM
Pfam:Cadherin_3	593	711	6.1e-16	PFAM
Pfam:Cadherin_3	728	876	2.7e-27	PFAM
Pfam:Cadherin_3	845	991	2.1e-30	PFAM
Pfam:Cadherin_3	1006	1097	4.8e-13	PFAM
Pfam:Cadherin_3	1101	1234	1e-17	PFAM
Pfam:Cadherin_3	1225	1375	6.1e-35	PFAM
Pfam:Cadherin_3	1360	1488	1.5e-22	PFAM
Pfam:Cadherin_3	1488	1598	7.5e-30	PFAM
Pfam:Cadherin_3	1599	1726	1.1e-14	PFAM
Pfam:Calx-beta	1731	1830	6.4e-10	PFAM
low complexity region	1876	1892	N/A	INTRINSIC
CLECT	2047	2170	2.25e-27	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,665 (GRCm39)	C388Y	probably damaging	Het
4930522L14Rik	G	A	5: 109,884,230 (GRCm39)	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135 (GRCm39)	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,602,997 (GRCm39)	K531*	probably null	Het
Adgrf5	A	T	17: 43,752,729 (GRCm39)	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,842,467 (GRCm39)	E865G	probably benign	Het
Adprhl1	T	A	8: 13,275,316 (GRCm39)	R481*	probably null	Het
Afap1l1	T	A	18: 61,879,853 (GRCm39)	D339V	probably damaging	Het
Atp9b	T	A	18: 80,890,412 (GRCm39)	H309L		Het
Baiap3	A	G	17: 25,470,112 (GRCm39)	V122A	probably damaging	Het
Btg4	T	C	9: 51,029,240 (GRCm39)	S142P	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdca2	T	A	14: 67,914,665 (GRCm39)	T865S	probably benign	Het
Cdk12	A	G	11: 98,131,661 (GRCm39)	Y964C	unknown	Het
Cenpo	A	T	12: 4,264,573 (GRCm39)	F273Y	probably damaging	Het
Cfap96	T	A	8: 46,423,436 (GRCm39)	K92M	probably damaging	Het
Chac1	T	A	2: 119,183,987 (GRCm39)	D196E	probably damaging	Het
Clec4n	T	C	6: 123,209,063 (GRCm39)	F43L	probably benign	Het
Colgalt1	T	A	8: 72,074,508 (GRCm39)	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,906,830 (GRCm39)		probably null	Het
Cyp2b23	T	A	7: 26,385,851 (GRCm39)	E2V	probably damaging	Het
Cyp51	T	A	5: 4,152,929 (GRCm39)	K91M	probably damaging	Het
Cyria	A	C	12: 12,414,798 (GRCm39)	Y263S	probably benign	Het
Dnah8	G	T	17: 30,882,348 (GRCm39)	G640V	probably benign	Het
Dnajc2	G	T	5: 21,965,637 (GRCm39)	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,191,053 (GRCm39)	L110H	probably damaging	Het
Fem1b	T	A	9: 62,703,844 (GRCm39)	Y472F	probably benign	Het
Gabrg1	A	T	5: 70,973,415 (GRCm39)	D46E	probably damaging	Het
Gbp4	T	C	5: 105,266,161 (GRCm39)	K627E	probably benign	Het
Glis1	A	G	4: 107,491,900 (GRCm39)	D776G	probably damaging	Het
Gm4847	A	G	1: 166,467,575 (GRCm39)	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,759,741 (GRCm39)	Y1213*	probably null	Het
Gm8229	T	A	14: 44,604,033 (GRCm39)	L74*	probably null	Het
Hc	A	T	2: 34,887,411 (GRCm39)	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,443,302 (GRCm39)	S186R	unknown	Het
Hrh4	A	G	18: 13,155,582 (GRCm39)	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,311,490 (GRCm39)	L975P	probably damaging	Het
Intu	G	A	3: 40,654,222 (GRCm39)	V905I	probably benign	Het
Large1	T	A	8: 73,843,071 (GRCm39)	R151W	probably damaging	Het
Limd2	G	A	11: 106,050,004 (GRCm39)	T24M	probably benign	Het
Med16	A	T	10: 79,734,206 (GRCm39)	C569*	probably null	Het
Mettl1	T	G	10: 126,880,390 (GRCm39)	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,220,900 (GRCm39)	T61A	probably benign	Het
Mrps31	T	A	8: 22,914,367 (GRCm39)	Y238N	probably benign	Het
Mrs2	T	C	13: 25,181,113 (GRCm39)	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Noxred1	G	A	12: 87,271,761 (GRCm39)	A136V	probably benign	Het
Obscn	T	A	11: 59,024,588 (GRCm39)	D484V	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,381,431 (GRCm39)	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,882,434 (GRCm39)	C680Y	probably benign	Het
Plxna1	A	G	6: 89,300,241 (GRCm39)	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,147,235 (GRCm39)	M1129V	probably benign	Het
Prp2	C	T	6: 132,572,928 (GRCm39)	T7I	unknown	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Sdhaf3	C	T	6: 7,038,855 (GRCm39)	T59M	probably benign	Het
Slc17a6	T	A	7: 51,275,253 (GRCm39)	I104N	probably benign	Het
Slc35c1	A	T	2: 92,289,402 (GRCm39)	W48R	probably damaging	Het
Slc5a4b	A	T	10: 75,910,886 (GRCm39)	C317S	probably damaging	Het
Smim13	G	T	13: 41,403,650 (GRCm39)		probably benign	Het
Snrpg	T	C	6: 86,355,761 (GRCm39)	V76A	probably benign	Het
Sntb2	C	T	8: 107,738,164 (GRCm39)	T509I	probably benign	Het
Sptbn1	T	C	11: 30,079,601 (GRCm39)	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,794,290 (GRCm39)	E1498G	possibly damaging	Het
Stau1	T	A	2: 166,792,787 (GRCm39)	N393Y	possibly damaging	Het
Tars2	A	T	3: 95,653,401 (GRCm39)	S500T	probably damaging	Het
Tbc1d23	A	T	16: 56,993,488 (GRCm39)	D559E	probably benign	Het
Trav14-2	T	C	14: 53,878,508 (GRCm39)	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,882,148 (GRCm39)	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,903,541 (GRCm39)	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,013,431 (GRCm39)	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,508,437 (GRCm39)	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,666,863 (GRCm39)	R56K	probably benign	Het
Zfp616	G	T	11: 73,975,188 (GRCm39)	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,704,580 (GRCm39)	F453Y	possibly damaging	Het

Other mutations in Frem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Frem1	APN	4	82,877,626 (GRCm39)	missense	possibly damaging	0.46
IGL01069:Frem1	APN	4	82,932,104 (GRCm39)	missense	probably benign	0.00
IGL01106:Frem1	APN	4	82,840,494 (GRCm39)	missense	probably benign	0.00
IGL01398:Frem1	APN	4	82,868,599 (GRCm39)	missense	possibly damaging	0.64
IGL01617:Frem1	APN	4	82,854,376 (GRCm39)	missense	probably benign	0.02
IGL01647:Frem1	APN	4	82,868,593 (GRCm39)	missense	possibly damaging	0.60
IGL01690:Frem1	APN	4	82,877,533 (GRCm39)	splice site	probably benign
IGL02006:Frem1	APN	4	82,911,037 (GRCm39)	critical splice donor site	probably null
IGL02069:Frem1	APN	4	82,821,788 (GRCm39)	missense	probably damaging	1.00
IGL02131:Frem1	APN	4	82,843,091 (GRCm39)	missense	probably benign	0.03
IGL02225:Frem1	APN	4	82,858,743 (GRCm39)	missense	probably damaging	1.00
IGL02439:Frem1	APN	4	82,874,582 (GRCm39)	missense	probably benign	0.00
IGL02567:Frem1	APN	4	82,918,292 (GRCm39)	missense	probably damaging	1.00
IGL02647:Frem1	APN	4	82,919,991 (GRCm39)	missense	probably damaging	1.00
IGL02653:Frem1	APN	4	82,877,571 (GRCm39)	missense	probably benign	0.22
IGL02831:Frem1	APN	4	82,874,395 (GRCm39)	missense	probably benign	0.31
IGL02997:Frem1	APN	4	82,853,205 (GRCm39)	missense	probably damaging	1.00
IGL03005:Frem1	APN	4	82,912,371 (GRCm39)	missense	probably damaging	1.00
IGL03036:Frem1	APN	4	82,877,576 (GRCm39)	missense	possibly damaging	0.55
IGL03193:Frem1	APN	4	82,912,263 (GRCm39)	splice site	probably benign
IGL03218:Frem1	APN	4	82,832,883 (GRCm39)	missense	probably benign	0.00
IGL03235:Frem1	APN	4	82,938,992 (GRCm39)	missense	possibly damaging	0.87
IGL03243:Frem1	APN	4	82,932,206 (GRCm39)	missense	probably damaging	1.00
bat	UTSW	4	82,983,060 (GRCm38)	intron	probably benign
blister	UTSW	4	82,939,007 (GRCm39)	missense	probably benign	0.28
boy	UTSW	4	82,874,492 (GRCm39)	missense	probably benign	0.16
Bubblie	UTSW	4	82,888,870 (GRCm39)	critical splice donor site	probably null
magicbear	UTSW	4	82,920,057 (GRCm39)	missense	probably damaging	1.00
major	UTSW	4	82,907,426 (GRCm39)	missense	probably damaging	1.00
R6324_Frem1_643	UTSW	4	82,901,574 (GRCm39)	missense	probably benign	0.00
PIT4131001:Frem1	UTSW	4	82,924,045 (GRCm39)	missense	probably damaging	0.99
PIT4466001:Frem1	UTSW	4	82,890,374 (GRCm39)	missense	probably benign	0.01
PIT4472001:Frem1	UTSW	4	82,890,374 (GRCm39)	missense	probably benign	0.01
PIT4515001:Frem1	UTSW	4	82,818,663 (GRCm39)	missense	probably damaging	0.98
PIT4531001:Frem1	UTSW	4	82,868,517 (GRCm39)	missense	probably benign	0.12
R0010:Frem1	UTSW	4	82,918,335 (GRCm39)	missense	probably benign	0.41
R0010:Frem1	UTSW	4	82,918,335 (GRCm39)	missense	probably benign	0.41
R0115:Frem1	UTSW	4	82,854,406 (GRCm39)	missense	possibly damaging	0.94
R0125:Frem1	UTSW	4	82,930,188 (GRCm39)	missense	probably damaging	1.00
R0280:Frem1	UTSW	4	82,887,681 (GRCm39)	missense	probably damaging	1.00
R0504:Frem1	UTSW	4	82,830,874 (GRCm39)	missense	probably benign	0.26
R0519:Frem1	UTSW	4	82,888,870 (GRCm39)	critical splice donor site	probably null
R0631:Frem1	UTSW	4	82,890,402 (GRCm39)	missense	probably damaging	1.00
R0645:Frem1	UTSW	4	82,907,403 (GRCm39)	missense	probably damaging	1.00
R0781:Frem1	UTSW	4	82,868,557 (GRCm39)	missense	probably damaging	0.99
R1110:Frem1	UTSW	4	82,868,557 (GRCm39)	missense	probably damaging	0.99
R1115:Frem1	UTSW	4	82,939,007 (GRCm39)	missense	probably benign	0.28
R1130:Frem1	UTSW	4	82,834,865 (GRCm39)	splice site	probably null
R1173:Frem1	UTSW	4	82,868,589 (GRCm39)	missense	probably benign	0.16
R1349:Frem1	UTSW	4	82,840,542 (GRCm39)	splice site	probably benign
R1464:Frem1	UTSW	4	82,930,116 (GRCm39)	missense	probably damaging	1.00
R1464:Frem1	UTSW	4	82,930,116 (GRCm39)	missense	probably damaging	1.00
R1658:Frem1	UTSW	4	82,920,045 (GRCm39)	missense	probably damaging	1.00
R1672:Frem1	UTSW	4	82,917,128 (GRCm39)	missense	probably benign	0.09
R1831:Frem1	UTSW	4	82,939,074 (GRCm39)	missense	possibly damaging	0.95
R1851:Frem1	UTSW	4	82,868,737 (GRCm39)	missense	probably damaging	0.98
R2014:Frem1	UTSW	4	82,924,089 (GRCm39)	missense	probably damaging	1.00
R2021:Frem1	UTSW	4	82,831,795 (GRCm39)	missense	probably benign	0.02
R2022:Frem1	UTSW	4	82,831,795 (GRCm39)	missense	probably benign	0.02
R2023:Frem1	UTSW	4	82,831,795 (GRCm39)	missense	probably benign	0.02
R2183:Frem1	UTSW	4	82,909,732 (GRCm39)	missense	probably benign	0.00
R2437:Frem1	UTSW	4	82,918,410 (GRCm39)	missense	probably damaging	1.00
R2520:Frem1	UTSW	4	82,868,527 (GRCm39)	missense	probably damaging	0.99
R3195:Frem1	UTSW	4	82,932,351 (GRCm39)	missense	probably damaging	0.99
R3196:Frem1	UTSW	4	82,932,351 (GRCm39)	missense	probably damaging	0.99
R3408:Frem1	UTSW	4	82,930,223 (GRCm39)	missense	probably damaging	1.00
R3411:Frem1	UTSW	4	82,881,416 (GRCm39)	missense	possibly damaging	0.51
R3742:Frem1	UTSW	4	82,930,104 (GRCm39)	missense	probably damaging	1.00
R3829:Frem1	UTSW	4	82,917,167 (GRCm39)	missense	probably damaging	1.00
R3888:Frem1	UTSW	4	82,831,844 (GRCm39)	missense	probably benign	0.41
R4329:Frem1	UTSW	4	82,904,774 (GRCm39)	missense	probably benign	0.01
R4364:Frem1	UTSW	4	82,831,488 (GRCm39)	missense	probably damaging	0.99
R4411:Frem1	UTSW	4	82,881,481 (GRCm39)	missense	probably damaging	1.00
R4624:Frem1	UTSW	4	82,907,343 (GRCm39)	missense	probably damaging	1.00
R4687:Frem1	UTSW	4	82,938,868 (GRCm39)	missense	probably damaging	1.00
R4764:Frem1	UTSW	4	82,907,426 (GRCm39)	missense	probably damaging	1.00
R4801:Frem1	UTSW	4	82,834,865 (GRCm39)	splice site	probably benign
R4802:Frem1	UTSW	4	82,834,865 (GRCm39)	splice site	probably benign
R4854:Frem1	UTSW	4	82,834,995 (GRCm39)	missense	possibly damaging	0.88
R4872:Frem1	UTSW	4	82,881,387 (GRCm39)	missense	probably damaging	1.00
R4947:Frem1	UTSW	4	82,884,371 (GRCm39)	missense	probably damaging	0.99
R5007:Frem1	UTSW	4	82,859,049 (GRCm39)	intron	probably benign
R5103:Frem1	UTSW	4	82,909,849 (GRCm39)	missense	probably benign
R5369:Frem1	UTSW	4	82,919,976 (GRCm39)	missense	possibly damaging	0.61
R5494:Frem1	UTSW	4	82,858,990 (GRCm39)	makesense	probably null
R5694:Frem1	UTSW	4	82,912,353 (GRCm39)	missense	probably damaging	1.00
R5780:Frem1	UTSW	4	82,868,652 (GRCm39)	missense	probably benign	0.12
R5813:Frem1	UTSW	4	82,918,395 (GRCm39)	missense	probably damaging	1.00
R5843:Frem1	UTSW	4	82,854,289 (GRCm39)	missense	probably damaging	1.00
R5914:Frem1	UTSW	4	82,920,012 (GRCm39)	missense	probably damaging	1.00
R5985:Frem1	UTSW	4	82,884,287 (GRCm39)	missense	probably benign
R6091:Frem1	UTSW	4	82,818,796 (GRCm39)	missense	probably benign	0.01
R6165:Frem1	UTSW	4	82,874,492 (GRCm39)	missense	probably benign	0.16
R6324:Frem1	UTSW	4	82,901,574 (GRCm39)	missense	probably benign	0.00
R6369:Frem1	UTSW	4	82,832,029 (GRCm39)	splice site	probably null
R6414:Frem1	UTSW	4	82,858,773 (GRCm39)	missense	probably damaging	0.98
R6421:Frem1	UTSW	4	82,912,365 (GRCm39)	missense	probably damaging	1.00
R6434:Frem1	UTSW	4	82,884,253 (GRCm39)	missense	probably benign	0.03
R6453:Frem1	UTSW	4	82,833,062 (GRCm39)	nonsense	probably null
R6598:Frem1	UTSW	4	82,932,065 (GRCm39)	missense	probably damaging	0.99
R6720:Frem1	UTSW	4	82,932,069 (GRCm39)	missense	probably damaging	0.98
R6862:Frem1	UTSW	4	82,930,251 (GRCm39)	nonsense	probably null
R6922:Frem1	UTSW	4	82,840,506 (GRCm39)	missense	probably damaging	1.00
R6931:Frem1	UTSW	4	82,888,914 (GRCm39)	missense	probably damaging	1.00
R6992:Frem1	UTSW	4	82,858,599 (GRCm39)	missense	possibly damaging	0.62
R6995:Frem1	UTSW	4	82,904,838 (GRCm39)	missense	probably damaging	1.00
R7001:Frem1	UTSW	4	82,904,798 (GRCm39)	missense	probably benign	0.44
R7104:Frem1	UTSW	4	82,858,918 (GRCm39)	missense	probably benign	0.30
R7146:Frem1	UTSW	4	82,840,532 (GRCm39)	missense	possibly damaging	0.93
R7174:Frem1	UTSW	4	82,840,493 (GRCm39)	missense	probably benign	0.00
R7327:Frem1	UTSW	4	82,938,992 (GRCm39)	missense	possibly damaging	0.87
R7343:Frem1	UTSW	4	82,912,359 (GRCm39)	missense	probably damaging	0.99
R7368:Frem1	UTSW	4	82,884,381 (GRCm39)	missense	probably benign	0.19
R7392:Frem1	UTSW	4	82,932,064 (GRCm39)	missense	probably benign	0.06
R7465:Frem1	UTSW	4	82,833,072 (GRCm39)	missense	probably benign	0.11
R7499:Frem1	UTSW	4	82,924,007 (GRCm39)	missense	probably damaging	1.00
R7536:Frem1	UTSW	4	82,874,432 (GRCm39)	missense	probably damaging	1.00
R7752:Frem1	UTSW	4	82,877,614 (GRCm39)	missense	probably benign	0.02
R7753:Frem1	UTSW	4	82,832,217 (GRCm39)	missense	probably benign	0.03
R7790:Frem1	UTSW	4	82,907,401 (GRCm39)	missense	probably benign	0.02
R7818:Frem1	UTSW	4	82,932,245 (GRCm39)	missense	probably damaging	1.00
R7878:Frem1	UTSW	4	82,938,917 (GRCm39)	missense	probably benign	0.00
R7886:Frem1	UTSW	4	82,934,643 (GRCm39)	missense	possibly damaging	0.68
R7901:Frem1	UTSW	4	82,877,614 (GRCm39)	missense	probably benign	0.02
R7976:Frem1	UTSW	4	82,919,946 (GRCm39)	missense	probably damaging	0.97
R8240:Frem1	UTSW	4	82,874,485 (GRCm39)	missense	probably benign	0.21
R8305:Frem1	UTSW	4	82,918,226 (GRCm39)	missense	probably benign	0.06
R8415:Frem1	UTSW	4	82,918,499 (GRCm39)	missense	probably damaging	1.00
R8751:Frem1	UTSW	4	82,889,015 (GRCm39)	missense	probably damaging	1.00
R8819:Frem1	UTSW	4	82,821,754 (GRCm39)	missense	probably damaging	1.00
R8820:Frem1	UTSW	4	82,821,754 (GRCm39)	missense	probably damaging	1.00
R8829:Frem1	UTSW	4	82,918,431 (GRCm39)	missense	probably damaging	1.00
R8834:Frem1	UTSW	4	82,922,610 (GRCm39)	missense	probably damaging	1.00
R8857:Frem1	UTSW	4	82,922,280 (GRCm39)	intron	probably benign
R8910:Frem1	UTSW	4	82,868,694 (GRCm39)	missense	probably benign	0.09
R9036:Frem1	UTSW	4	82,831,785 (GRCm39)	missense	probably benign
R9228:Frem1	UTSW	4	82,920,057 (GRCm39)	missense	probably damaging	1.00
R9382:Frem1	UTSW	4	82,901,622 (GRCm39)	missense	possibly damaging	0.79
R9441:Frem1	UTSW	4	82,924,083 (GRCm39)	missense	probably damaging	1.00
R9492:Frem1	UTSW	4	82,920,057 (GRCm39)	missense	probably damaging	1.00
R9517:Frem1	UTSW	4	82,901,714 (GRCm39)	missense	probably damaging	1.00
R9640:Frem1	UTSW	4	82,831,896 (GRCm39)	missense	probably benign
R9641:Frem1	UTSW	4	82,877,653 (GRCm39)	missense	probably damaging	1.00
X0013:Frem1	UTSW	4	82,833,045 (GRCm39)	missense	probably benign	0.38
X0017:Frem1	UTSW	4	82,909,870 (GRCm39)	critical splice acceptor site	probably null
Z1088:Frem1	UTSW	4	82,890,504 (GRCm39)	missense	probably damaging	1.00
Z1176:Frem1	UTSW	4	82,918,220 (GRCm39)	missense	probably damaging	1.00
Z1177:Frem1	UTSW	4	82,918,506 (GRCm39)	missense	probably benign	0.39
Z1177:Frem1	UTSW	4	82,858,552 (GRCm39)	critical splice donor site	probably null
Z1177:Frem1	UTSW	4	82,934,701 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGATTCCAAATCCACAGCC -3'
(R):5'- ATTGATAAGAACCTGCTCCAGTTTG -3'

Sequencing Primer
(F):5'- CCATGTAGGCCTGGTGATCAAATTC -3'
(R):5'- TGATTATGATAGGACTGCCAGCC -3'

Posted On

2019-12-20