Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Fam126a'

541643

Institutional Source

Beutler Lab

Gene Symbol

Fam126a

Ensembl Gene

ENSMUSG00000028995

Gene Name

family with sequence similarity 126, member A

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23915276-24030690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23991756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 45 (I45V)

Ref Sequence

ENSEMBL: ENSMUSP00000110761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030849] [ENSMUST00000101513] [ENSMUST00000115109] [ENSMUST00000197617]

AlphaFold

Q6P9N1

Predicted Effect

probably benign
Transcript: ENSMUST00000030849
AA Change: I45V

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: I45V

Domain	Start	End	E-Value	Type
Pfam:Hyccin	22	330	2.7e-133	PFAM
low complexity region	353	373	N/A	INTRINSIC
low complexity region	415	434	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101513
AA Change: I45V

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995
AA Change: I45V

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	8e-141	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115109
AA Change: I45V

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: I45V

Domain	Start	End	E-Value	Type
Pfam:Hyccin	20	330	2.2e-141	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197617

SMART Domains

Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995

Domain	Start	End	E-Value	Type
Pfam:Hyccin	1	248	1.7e-100	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Atp11a	T	A	8: 12,820,467	D173E	probably damaging	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	probably damaging	Het

Other mutations in Fam126a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Fam126a	APN	5	23985845	splice site	probably benign
IGL03365:Fam126a	APN	5	23983160	missense	probably benign	0.30
Dropsy	UTSW	5	23999958	missense	probably damaging	0.99
R0070:Fam126a	UTSW	5	23964999	missense	probably damaging	1.00
R0070:Fam126a	UTSW	5	23964999	missense	probably damaging	1.00
R0616:Fam126a	UTSW	5	23986772	missense	probably damaging	0.99
R0645:Fam126a	UTSW	5	23979508	missense	probably damaging	1.00
R1364:Fam126a	UTSW	5	23965353	missense	probably benign
R1462:Fam126a	UTSW	5	23985732	splice site	probably benign
R1544:Fam126a	UTSW	5	23965141	missense	probably benign	0.00
R1670:Fam126a	UTSW	5	23999991	start codon destroyed	possibly damaging	0.95
R1796:Fam126a	UTSW	5	23986151	missense	probably damaging	1.00
R4433:Fam126a	UTSW	5	23979581	missense	possibly damaging	0.77
R4523:Fam126a	UTSW	5	23965122	missense	probably benign	0.01
R5220:Fam126a	UTSW	5	23965222	missense	possibly damaging	0.64
R5453:Fam126a	UTSW	5	23987879	splice site	probably null
R5694:Fam126a	UTSW	5	23991796	missense	probably damaging	1.00
R5703:Fam126a	UTSW	5	23980579	splice site	probably null
R6144:Fam126a	UTSW	5	23966369	missense	possibly damaging	0.45
R6547:Fam126a	UTSW	5	23965100	missense	probably benign	0.04
R6579:Fam126a	UTSW	5	23966383	missense	possibly damaging	0.77
R6906:Fam126a	UTSW	5	23999958	missense	probably damaging	0.99
R6924:Fam126a	UTSW	5	23986135	splice site	probably null
R7068:Fam126a	UTSW	5	23964795	missense	possibly damaging	0.85
R7699:Fam126a	UTSW	5	23915496	missense	probably damaging	0.98
R8748:Fam126a	UTSW	5	23965322	missense	probably benign	0.17
R8785:Fam126a	UTSW	5	23964906	missense	probably damaging	1.00
R8958:Fam126a	UTSW	5	23964936	missense	probably benign	0.01
R9053:Fam126a	UTSW	5	23979581	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CCAAGGCTATGGAGACTCAGAG -3'
(R):5'- AAACACCAGCATGGAATTCTGG -3'

Sequencing Primer
(F):5'- GCTATGGAGACTCAGAGACATAC -3'
(R):5'- CCAGCATGGAATTCTGGAAACTATG -3'

Posted On

2018-11-28