Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Fam149a'

2312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam149a

Ensembl Gene

ENSMUSG00000070044

Gene Name

family with sequence similarity 149, member A

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

45336717-45382291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45351786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 253 (V253A)

Ref Sequence

ENSEMBL: ENSMUSP00000114612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093526] [ENSMUST00000155230]

AlphaFold

Q8CFV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093526
AA Change: V334A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: V334A

Domain	Start	End	E-Value	Type
low complexity region	48	65	N/A	INTRINSIC
low complexity region	96	111	N/A	INTRINSIC
low complexity region	239	250	N/A	INTRINSIC
low complexity region	262	274	N/A	INTRINSIC
Pfam:DUF3719	305	370	4.3e-30	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000135912
AA Change: V287A

SMART Domains

Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: V287A

Domain	Start	End	E-Value	Type
low complexity region	59	85	N/A	INTRINSIC
low complexity region	90	108	N/A	INTRINSIC
low complexity region	193	204	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
Pfam:DUF3719	259	324	2.7e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155230
AA Change: V253A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: V253A

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	55	73	N/A	INTRINSIC
low complexity region	158	169	N/A	INTRINSIC
low complexity region	181	193	N/A	INTRINSIC
Pfam:DUF3719	224	291	5.8e-28	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Fam149a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Fam149a	APN	8	45339343	missense	probably damaging	1.00
IGL01089:Fam149a	APN	8	45348527	missense	possibly damaging	0.95
IGL01578:Fam149a	APN	8	45350442	missense	probably damaging	1.00
IGL03095:Fam149a	APN	8	45341228	missense	probably damaging	1.00
IGL03112:Fam149a	APN	8	45348543	missense	possibly damaging	0.78
guangxi	UTSW	8	45381741	missense	probably damaging	1.00
PIT1430001:Fam149a	UTSW	8	45351706	missense	probably benign	0.00
R0111:Fam149a	UTSW	8	45341146	splice site	probably benign
R0113:Fam149a	UTSW	8	45341024	missense	probably damaging	1.00
R0452:Fam149a	UTSW	8	45355649	missense	probably damaging	1.00
R0604:Fam149a	UTSW	8	45345008	missense	probably damaging	1.00
R1441:Fam149a	UTSW	8	45355647	missense	probably damaging	1.00
R1672:Fam149a	UTSW	8	45339374	critical splice acceptor site	probably null
R1861:Fam149a	UTSW	8	45339362	nonsense	probably null
R1981:Fam149a	UTSW	8	45381741	missense	probably damaging	1.00
R2173:Fam149a	UTSW	8	45353954	missense	probably damaging	1.00
R2211:Fam149a	UTSW	8	45341009	missense	probably damaging	0.99
R3807:Fam149a	UTSW	8	45381610	missense	possibly damaging	0.91
R4176:Fam149a	UTSW	8	45341284	missense	probably benign	0.41
R4913:Fam149a	UTSW	8	45353883	missense	probably damaging	1.00
R5158:Fam149a	UTSW	8	45350435	missense	possibly damaging	0.51
R5172:Fam149a	UTSW	8	45344653	missense	probably damaging	0.99
R5436:Fam149a	UTSW	8	45348471	missense	probably benign	0.21
R6060:Fam149a	UTSW	8	45358762	intron	probably benign
R6426:Fam149a	UTSW	8	45381574	missense	probably benign
R6590:Fam149a	UTSW	8	45349034	missense	probably damaging	1.00
R6596:Fam149a	UTSW	8	45381630	missense	probably benign	0.25
R6690:Fam149a	UTSW	8	45349034	missense	probably damaging	1.00
R6730:Fam149a	UTSW	8	45381174	missense	probably damaging	1.00
R6734:Fam149a	UTSW	8	45381441	missense	probably benign
R6916:Fam149a	UTSW	8	45350406	missense	probably damaging	1.00
R7088:Fam149a	UTSW	8	45350545	missense	probably benign	0.08
R7219:Fam149a	UTSW	8	45350563	missense	possibly damaging	0.94
R7352:Fam149a	UTSW	8	45340997	missense	probably damaging	0.98
R7454:Fam149a	UTSW	8	45348546	missense	probably benign	0.29
R7591:Fam149a	UTSW	8	45350435	missense	possibly damaging	0.89
R7788:Fam149a	UTSW	8	45381517	missense	probably damaging	1.00
R7846:Fam149a	UTSW	8	45358641	missense
R7915:Fam149a	UTSW	8	45341243	missense	probably benign
R8036:Fam149a	UTSW	8	45349011	missense	probably benign	0.00
R8181:Fam149a	UTSW	8	45381718	missense	possibly damaging	0.92
R8239:Fam149a	UTSW	8	45350453	missense	possibly damaging	0.48
R8246:Fam149a	UTSW	8	45381618	missense	probably benign	0.00
R8532:Fam149a	UTSW	8	45348954	missense	possibly damaging	0.80
R8856:Fam149a	UTSW	8	45381574	missense
R8986:Fam149a	UTSW	8	45358800	missense
R9448:Fam149a	UTSW	8	45339374	critical splice acceptor site	probably null
R9704:Fam149a	UTSW	8	45342465	missense	probably benign	0.24
R9794:Fam149a	UTSW	8	45381412	missense	possibly damaging	0.47
Z1176:Fam149a	UTSW	8	45342458	missense	possibly damaging	0.92

Posted On

2011-12-09