Mutagenetix > Incidental Mutation

Incidental Mutation 'R7104:Frem1'

551044

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

045196-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R7104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82816157-82970576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82858918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1516 (I1516L)

Ref Sequence

ENSEMBL: ENSMUSP00000071627 (fasta)

Gene Model

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

AlphaFold

Q684R7

Predicted Effect

probably benign
Transcript: ENSMUST00000071708
AA Change: I1516L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: I1516L

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 benign
Transcript: ENSMUST00000107230
AA Change: I1497L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: I1497L

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 benign
Transcript: ENSMUST00000127886

SMART Domains

Protein: ENSMUSP00000122467
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	26	158	1.1e-18	PFAM
Pfam:Cadherin_3	150	300	4.6e-36	PFAM
Pfam:Cadherin_3	285	408	6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170248
AA Change: I1498L

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: I1498L

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: 100.0%
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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,627,891 (GRCm39)	E232G	probably damaging	Het
Atf7	A	G	15: 102,442,670 (GRCm39)	S480P	probably benign	Het
Cdk14	A	G	5: 5,245,325 (GRCm39)	I166T	possibly damaging	Het
Cdk5rap2	G	T	4: 70,267,393 (GRCm39)	F358L	probably benign	Het
Cplane1	T	C	15: 8,223,928 (GRCm39)	L897P	possibly damaging	Het
Cytip	A	G	2: 58,049,986 (GRCm39)	S28P	probably benign	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Dnajc10	T	A	2: 80,171,159 (GRCm39)	C480S	probably damaging	Het
Drc7	A	G	8: 95,785,711 (GRCm39)	D189G	probably damaging	Het
Engase	G	A	11: 118,372,121 (GRCm39)	V138M	probably damaging	Het
Esyt3	C	A	9: 99,220,840 (GRCm39)	R121L	probably damaging	Het
Gatad2b	T	A	3: 90,258,724 (GRCm39)	I249N	probably damaging	Het
Grk6	T	C	13: 55,602,219 (GRCm39)	S383P	probably benign	Het
Hectd1	C	T	12: 51,874,134 (GRCm39)		probably null	Het
Hipk2	A	G	6: 38,795,579 (GRCm39)	L230P	probably damaging	Het
Hivep1	A	T	13: 42,310,814 (GRCm39)	Q1018L	probably benign	Het
Itgad	T	C	7: 127,797,550 (GRCm39)	F927S	probably benign	Het
Itgb3bp	A	G	4: 99,702,335 (GRCm39)	V3A	probably damaging	Het
Kcnh7	G	T	2: 62,618,031 (GRCm39)	A486D	possibly damaging	Het
Krt1c	T	C	15: 101,723,522 (GRCm39)	T318A	probably benign	Het
Ndrg1	A	G	15: 66,818,377 (GRCm39)	F77S	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nos1	T	A	5: 118,085,496 (GRCm39)	C1275S	probably damaging	Het
Or14a256	T	C	7: 86,264,900 (GRCm39)	S318G	probably null	Het
Or4a69	A	G	2: 89,313,458 (GRCm39)	V7A	possibly damaging	Het
Or5an9	T	C	19: 12,187,242 (GRCm39)	I104T	possibly damaging	Het
Or5d39	T	C	2: 87,979,716 (GRCm39)	T216A	possibly damaging	Het
Or5j3	T	A	2: 86,128,564 (GRCm39)	S135T	probably benign	Het
Or8b12b	A	T	9: 37,684,437 (GRCm39)	N161Y	possibly damaging	Het
Pip4k2b	T	C	11: 97,623,542 (GRCm39)	M67V	possibly damaging	Het
Polq	C	A	16: 36,909,715 (GRCm39)	Y2366*	probably null	Het
Prg3	T	C	2: 84,819,097 (GRCm39)	S8P	probably benign	Het
Prl7c1	A	T	13: 27,962,952 (GRCm39)	L17*	probably null	Het
Prl8a8	A	T	13: 27,695,479 (GRCm39)	S51R	probably damaging	Het
Pttg1	G	C	11: 43,311,976 (GRCm39)	P160A	probably benign	Het
Rbfox1	C	A	16: 7,170,867 (GRCm39)	R276S	possibly damaging	Het
Rnase2a	T	G	14: 51,492,988 (GRCm39)	M126L	probably benign	Het
Secisbp2	A	T	13: 51,810,943 (GRCm39)	K202*	probably null	Het
Sema6c	A	G	3: 95,076,156 (GRCm39)	H236R	possibly damaging	Het
Septin12	A	G	16: 4,809,857 (GRCm39)	L181P	probably damaging	Het
Shc3	A	T	13: 51,585,241 (GRCm39)	V458D	possibly damaging	Het
Tecta	A	G	9: 42,278,239 (GRCm39)	Y1090H	probably benign	Het
Thsd7a	A	T	6: 12,379,429 (GRCm39)	N998K		Het
Tmem131l	A	T	3: 83,826,766 (GRCm39)	S1184T	possibly damaging	Het
Tnfsf15	T	C	4: 63,647,887 (GRCm39)	D251G	probably damaging	Het
Ttyh3	T	C	5: 140,615,540 (GRCm39)	E348G	probably benign	Het
Unc5c	T	C	3: 141,439,665 (GRCm39)	L186P	probably damaging	Het
Vmn2r37	A	T	7: 9,219,045 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	T	C	7: 42,577,959 (GRCm39)	D193G	possibly damaging	Het
Vmn2r85	A	T	10: 130,262,376 (GRCm39)	M121K	probably benign	Het
Vmn2r88	A	G	14: 51,651,253 (GRCm39)	D189G		Het
Vwc2l	C	A	1: 70,768,252 (GRCm39)	C105*	probably null	Het
Wdr72	T	A	9: 74,055,597 (GRCm39)	D275E	probably damaging	Het
Zfhx4	A	T	3: 5,467,549 (GRCm39)	D2594V	probably damaging	Het
Zfp174	C	T	16: 3,672,269 (GRCm39)	H273Y	probably benign	Het
Zwilch	A	G	9: 64,068,658 (GRCm39)	S203P	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
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
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'- GTGCTTTCCCTCTCAGGAAG -3'
(R):5'- GGTTTACTAACAGAAGGATGCTCC -3'

Sequencing Primer
(F):5'- TCTCAGGAAGAGGTACCCGTG -3'
(R):5'- GGATGCTCCTCAGGAATCCC -3'

Posted On

2019-05-15