Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:Fam149a'

550011

Institutional Source

Beutler Lab

Gene Symbol

Fam149a

Ensembl Gene

ENSMUSG00000070044

Gene Name

family with sequence similarity 149, member A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45336717-45382291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45350545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 384 (V384A)

Ref Sequence

ENSEMBL: ENSMUSP00000091245 (fasta)

Gene Model

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

AlphaFold

Q8CFV2

Predicted Effect

probably benign
Transcript: ENSMUST00000093526
AA Change: V384A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: V384A

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

SMART Domains

Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: V337A

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

possibly damaging
Transcript: ENSMUST00000155230
AA Change: V303A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: V303A

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,440,406	E48*	probably null	Het
2410089E03Rik	C	T	15: 8,218,947	T1660M	probably benign	Het
5830473C10Rik	T	A	5: 90,572,750	L260*	probably null	Het
Acaca	T	C	11: 84,278,957		probably null	Het
AI314180	A	T	4: 58,849,766	L458I	possibly damaging	Het
Alkbh3	A	G	2: 94,004,752	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,771,819	S38P	probably benign	Het
Armc10	T	C	5: 21,653,392	V145A	probably damaging	Het
BC048671	A	G	6: 90,303,240	K46R	probably null	Het
C2cd3	A	G	7: 100,416,181	T347A		Het
C8b	G	T	4: 104,793,343	E449D	probably benign	Het
Camk4	T	C	18: 32,939,531	S46P	probably benign	Het
Ccdc113	G	A	8: 95,538,105	R81H	probably benign	Het
Cd177	A	T	7: 24,745,133	C674*	probably null	Het
Cdc6	T	A	11: 98,919,239	V458D	probably damaging	Het
Cenpo	C	T	12: 4,215,307	E238K	probably benign	Het
Ckap2	G	T	8: 22,169,866	P533Q	possibly damaging	Het
Cma1	T	A	14: 55,943,816	H44L	probably damaging	Het
Cmya5	A	T	13: 93,091,864	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,160,077	I141N	probably damaging	Het
Col6a4	T	A	9: 106,000,686	T2031S	possibly damaging	Het
Cxcr5	T	A	9: 44,513,386	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,742,688	L204Q	probably damaging	Het
Dse	A	G	10: 34,153,889	Y402H	probably damaging	Het
Exoc6	G	T	19: 37,577,010	C178F	probably damaging	Het
Fcrl5	T	C	3: 87,457,834	*597Q	probably null	Het
Fer1l6	A	G	15: 58,564,050	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,968,865	H46L	probably benign	Het
Gcm2	T	C	13: 41,103,364	D303G	probably damaging	Het
Gk2	T	C	5: 97,455,675	M435V	probably damaging	Het
Gli1	C	A	10: 127,335,999	M295I	probably damaging	Het
Gm11444	G	T	11: 85,847,036	H109Q		Het
Gtpbp1	T	A	15: 79,719,282	D182E		Het
Hnf4g	A	T	3: 3,648,125		probably null	Het
Hsf2	G	A	10: 57,512,092	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,704,399	R491H	probably damaging	Het
Lama3	T	C	18: 12,582,545	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,724,355	K137E	probably damaging	Het
Mboat1	T	G	13: 30,195,789		probably null	Het
Mdh1	T	C	11: 21,558,484	Y286C	probably damaging	Het
Mga	G	T	2: 119,961,936	K2607N	probably damaging	Het
Morf4l1	C	A	9: 90,097,380	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,626,144	R196W	probably benign	Het
Muc16	C	A	9: 18,592,680	M6438I	probably damaging	Het
Myom3	A	G	4: 135,803,278	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,269,221	E170G	possibly damaging	Het
Nsd3	T	C	8: 25,666,034	I539T	probably benign	Het
Nup155	T	C	15: 8,156,693	F1313S	probably benign	Het
Nxn	A	T	11: 76,263,148	V287E	possibly damaging	Het
Olfr1253	G	A	2: 89,752,099	T243I	probably benign	Het
Olfr1354	A	C	10: 78,917,759	L306F	probably benign	Het
Olfr891	C	A	9: 38,180,452	V124F	probably damaging	Het
Pax6	A	G	2: 105,696,408	N220D	probably benign	Het
Pcdha11	G	A	18: 37,005,417	R33H	probably benign	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pear1	C	A	3: 87,754,638	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Pidd1	A	T	7: 141,440,487	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365	I878F	probably damaging	Het
Rabepk	T	C	2: 34,785,699	T140A	probably benign	Het
Ranbp2	G	T	10: 58,463,906	R454L	probably damaging	Het
Rnf123	C	T	9: 108,058,536	R943Q	probably null	Het
Sash1	G	A	10: 8,729,717	R970*	probably null	Het
Serpinb2	C	A	1: 107,524,692	F333L	probably damaging	Het
Shank3	T	A	15: 89,503,525		probably null	Het
Slc9a2	A	C	1: 40,726,379	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,533		probably null	Het
Thoc3	T	C	13: 54,463,752	T241A	probably damaging	Het
Tmem139	T	A	6: 42,263,265	V2E	probably damaging	Het
Usp24	G	T	4: 106,387,546	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,900,747	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455	H530Q	probably damaging	Het
Wdr35	T	A	12: 8,978,659	N92K	probably benign	Het
Zbtb18	T	G	1: 177,447,254	L60R	probably damaging	Het
Zfp184	T	A	13: 21,959,992	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,662,672	S172R	probably benign	Het
Zswim2	G	A	2: 83,915,727	Q456*	probably null	Het

Other mutations in Fam149a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Fam149a	APN	8	45339343	missense	probably damaging	1.00
IGL00229:Fam149a	APN	8	45351786	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CTACCAAGATCTAACCTCTTTGGGG -3'
(R):5'- TGGTTCAGAAAATAGGTGTCCTG -3'

Sequencing Primer
(F):5'- CTTTGGGGTATATTTCCCTCAAAAG -3'
(R):5'- TGTCCTGATAAAAGTAATATTTGGGG -3'

Posted On

2019-05-15