Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Frem1'

207307

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

039858-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R1831 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

82816157-82970576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82939074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3 (S3P)

Ref Sequence

ENSEMBL: ENSMUSP00000125809 (fasta)

Gene Model

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

AlphaFold

Q684R7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071708
AA Change: S3P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: S3P

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

possibly damaging
Transcript: ENSMUST00000107230
AA Change: S3P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: S3P

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

noncoding transcript
Transcript: ENSMUST00000131102

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170248
AA Change: S3P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: S3P

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Tsr1	T	C	11: 74,791,182 (GRCm39)	F254L	probably benign	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably 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
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
R7877:Frem1	UTSW	4	82,932,049 (GRCm39)	critical splice donor site	probably null
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'- CTTTTCTTTAGGGACTGCAACC -3'
(R):5'- GCGTTGTCAGGAATGATCAGC -3'

Sequencing Primer
(F):5'- CCTCAGGTGATCTCCAGACAG -3'
(R):5'- CAGCGAGTTTTATTAAAAAGCCCCG -3'

Posted On

2014-06-23