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

045182-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45789754-45835328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45803582 bp (GRCm39)

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: 83,331,232 (GRCm39)	E48*	probably null	Het
Acaca	T	C	11: 84,169,783 (GRCm39)		probably null	Het
Albfm1	T	A	5: 90,720,609 (GRCm39)	L260*	probably null	Het
Alkbh3	A	G	2: 93,835,097 (GRCm39)	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,904,872 (GRCm39)	S38P	probably benign	Het
Armc10	T	C	5: 21,858,390 (GRCm39)	V145A	probably damaging	Het
BC048671	A	G	6: 90,280,222 (GRCm39)	K46R	probably null	Het
C2cd3	A	G	7: 100,065,388 (GRCm39)	T347A		Het
C8b	G	T	4: 104,650,540 (GRCm39)	E449D	probably benign	Het
Camk4	T	C	18: 33,072,584 (GRCm39)	S46P	probably benign	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Cd177	A	T	7: 24,444,558 (GRCm39)	C674*	probably null	Het
Cdc6	T	A	11: 98,810,065 (GRCm39)	V458D	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Ckap2	G	T	8: 22,659,882 (GRCm39)	P533Q	possibly damaging	Het
Cma1	T	A	14: 56,181,273 (GRCm39)	H44L	probably damaging	Het
Cmya5	A	T	13: 93,228,372 (GRCm39)	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,087,802 (GRCm39)	I141N	probably damaging	Het
Col6a4	T	A	9: 105,877,885 (GRCm39)	T2031S	possibly damaging	Het
Cplane1	C	T	15: 8,248,431 (GRCm39)	T1660M	probably benign	Het
Cxcr5	T	A	9: 44,424,683 (GRCm39)	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,344,417 (GRCm39)	L204Q	probably damaging	Het
Dse	A	G	10: 34,029,885 (GRCm39)	Y402H	probably damaging	Het
Ecpas	A	T	4: 58,849,766 (GRCm39)	L458I	possibly damaging	Het
Exoc6	G	T	19: 37,565,458 (GRCm39)	C178F	probably damaging	Het
Fcrl5	T	C	3: 87,365,141 (GRCm39)	*597Q	probably null	Het
Fer1l6	A	G	15: 58,435,899 (GRCm39)	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,796,434 (GRCm39)	H46L	probably benign	Het
Gcm2	T	C	13: 41,256,840 (GRCm39)	D303G	probably damaging	Het
Gk2	T	C	5: 97,603,534 (GRCm39)	M435V	probably damaging	Het
Gli1	C	A	10: 127,171,868 (GRCm39)	M295I	probably damaging	Het
Gm11444	G	T	11: 85,737,862 (GRCm39)	H109Q		Het
Gtpbp1	T	A	15: 79,603,483 (GRCm39)	D182E		Het
Hnf4g	A	T	3: 3,713,185 (GRCm39)		probably null	Het
Hsf2	G	A	10: 57,388,188 (GRCm39)	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Lama3	T	C	18: 12,715,602 (GRCm39)	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Mboat1	T	G	13: 30,379,772 (GRCm39)		probably null	Het
Mdh1	T	C	11: 21,508,484 (GRCm39)	Y286C	probably damaging	Het
Mga	G	T	2: 119,792,417 (GRCm39)	K2607N	probably damaging	Het
Morf4l1	C	A	9: 89,979,433 (GRCm39)	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,497,993 (GRCm39)	R196W	probably benign	Het
Muc16	C	A	9: 18,503,976 (GRCm39)	M6438I	probably damaging	Het
Myom3	A	G	4: 135,530,589 (GRCm39)	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,308,302 (GRCm39)	E170G	possibly damaging	Het
Nsd3	T	C	8: 26,156,050 (GRCm39)	I539T	probably benign	Het
Nup155	T	C	15: 8,186,177 (GRCm39)	F1313S	probably benign	Het
Nxn	A	T	11: 76,153,974 (GRCm39)	V287E	possibly damaging	Het
Or4a80	G	A	2: 89,582,443 (GRCm39)	T243I	probably benign	Het
Or7a38	A	C	10: 78,753,593 (GRCm39)	L306F	probably benign	Het
Or8c13	C	A	9: 38,091,748 (GRCm39)	V124F	probably damaging	Het
Pax6	A	G	2: 105,526,753 (GRCm39)	N220D	probably benign	Het
Pcdha11	G	A	18: 37,138,470 (GRCm39)	R33H	probably benign	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pear1	C	A	3: 87,661,945 (GRCm39)	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pidd1	A	T	7: 141,020,400 (GRCm39)	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365 (GRCm38)	I878F	probably damaging	Het
Rabepk	T	C	2: 34,675,711 (GRCm39)	T140A	probably benign	Het
Ranbp2	G	T	10: 58,299,728 (GRCm39)	R454L	probably damaging	Het
Rnf123	C	T	9: 107,935,735 (GRCm39)	R943Q	probably null	Het
Sash1	G	A	10: 8,605,481 (GRCm39)	R970*	probably null	Het
Serpinb2	C	A	1: 107,452,422 (GRCm39)	F333L	probably damaging	Het
Shank3	T	A	15: 89,387,728 (GRCm39)		probably null	Het
Slc9a2	A	C	1: 40,765,539 (GRCm39)	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,532 (GRCm39)		probably null	Het
Thoc3	T	C	13: 54,611,565 (GRCm39)	T241A	probably damaging	Het
Tmem139	T	A	6: 42,240,199 (GRCm39)	V2E	probably damaging	Het
Usp24	G	T	4: 106,244,743 (GRCm39)	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,776,645 (GRCm39)	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455 (GRCm39)	H530Q	probably damaging	Het
Wdr35	T	A	12: 9,028,659 (GRCm39)	N92K	probably benign	Het
Zbtb18	T	G	1: 177,274,820 (GRCm39)	L60R	probably damaging	Het
Zfp184	T	A	13: 22,144,162 (GRCm39)	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796 (GRCm39)	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,312,096 (GRCm39)	S172R	probably benign	Het
Zswim2	G	A	2: 83,746,071 (GRCm39)	Q456*	probably null	Het

Other mutations in Fam149a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Fam149a	APN	8	45,792,380 (GRCm39)	missense	probably damaging	1.00
IGL00229:Fam149a	APN	8	45,804,823 (GRCm39)	missense	probably damaging	0.98
IGL01089:Fam149a	APN	8	45,801,564 (GRCm39)	missense	possibly damaging	0.95
IGL01578:Fam149a	APN	8	45,803,479 (GRCm39)	missense	probably damaging	1.00
IGL03095:Fam149a	APN	8	45,794,265 (GRCm39)	missense	probably damaging	1.00
IGL03112:Fam149a	APN	8	45,801,580 (GRCm39)	missense	possibly damaging	0.78
guangxi	UTSW	8	45,834,778 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Fam149a	UTSW	8	45,804,743 (GRCm39)	missense	probably benign	0.00
R0111:Fam149a	UTSW	8	45,794,183 (GRCm39)	splice site	probably benign
R0113:Fam149a	UTSW	8	45,794,061 (GRCm39)	missense	probably damaging	1.00
R0452:Fam149a	UTSW	8	45,808,686 (GRCm39)	missense	probably damaging	1.00
R0604:Fam149a	UTSW	8	45,798,045 (GRCm39)	missense	probably damaging	1.00
R1441:Fam149a	UTSW	8	45,808,684 (GRCm39)	missense	probably damaging	1.00
R1672:Fam149a	UTSW	8	45,792,411 (GRCm39)	critical splice acceptor site	probably null
R1861:Fam149a	UTSW	8	45,792,399 (GRCm39)	nonsense	probably null
R1981:Fam149a	UTSW	8	45,834,778 (GRCm39)	missense	probably damaging	1.00
R2173:Fam149a	UTSW	8	45,806,991 (GRCm39)	missense	probably damaging	1.00
R2211:Fam149a	UTSW	8	45,794,046 (GRCm39)	missense	probably damaging	0.99
R3807:Fam149a	UTSW	8	45,834,647 (GRCm39)	missense	possibly damaging	0.91
R4176:Fam149a	UTSW	8	45,794,321 (GRCm39)	missense	probably benign	0.41
R4913:Fam149a	UTSW	8	45,806,920 (GRCm39)	missense	probably damaging	1.00
R5158:Fam149a	UTSW	8	45,803,472 (GRCm39)	missense	possibly damaging	0.51
R5172:Fam149a	UTSW	8	45,797,690 (GRCm39)	missense	probably damaging	0.99
R5436:Fam149a	UTSW	8	45,801,508 (GRCm39)	missense	probably benign	0.21
R6060:Fam149a	UTSW	8	45,811,799 (GRCm39)	intron	probably benign
R6426:Fam149a	UTSW	8	45,834,611 (GRCm39)	missense	probably benign
R6590:Fam149a	UTSW	8	45,802,071 (GRCm39)	missense	probably damaging	1.00
R6596:Fam149a	UTSW	8	45,834,667 (GRCm39)	missense	probably benign	0.25
R6690:Fam149a	UTSW	8	45,802,071 (GRCm39)	missense	probably damaging	1.00
R6730:Fam149a	UTSW	8	45,834,211 (GRCm39)	missense	probably damaging	1.00
R6734:Fam149a	UTSW	8	45,834,478 (GRCm39)	missense	probably benign
R6916:Fam149a	UTSW	8	45,803,443 (GRCm39)	missense	probably damaging	1.00
R7219:Fam149a	UTSW	8	45,803,600 (GRCm39)	missense	possibly damaging	0.94
R7352:Fam149a	UTSW	8	45,794,034 (GRCm39)	missense	probably damaging	0.98
R7454:Fam149a	UTSW	8	45,801,583 (GRCm39)	missense	probably benign	0.29
R7591:Fam149a	UTSW	8	45,803,472 (GRCm39)	missense	possibly damaging	0.89
R7788:Fam149a	UTSW	8	45,834,554 (GRCm39)	missense	probably damaging	1.00
R7846:Fam149a	UTSW	8	45,811,678 (GRCm39)	missense
R7915:Fam149a	UTSW	8	45,794,280 (GRCm39)	missense	probably benign
R8036:Fam149a	UTSW	8	45,802,048 (GRCm39)	missense	probably benign	0.00
R8181:Fam149a	UTSW	8	45,834,755 (GRCm39)	missense	possibly damaging	0.92
R8239:Fam149a	UTSW	8	45,803,490 (GRCm39)	missense	possibly damaging	0.48
R8246:Fam149a	UTSW	8	45,834,655 (GRCm39)	missense	probably benign	0.00
R8532:Fam149a	UTSW	8	45,801,991 (GRCm39)	missense	possibly damaging	0.80
R8856:Fam149a	UTSW	8	45,834,611 (GRCm39)	missense
R8986:Fam149a	UTSW	8	45,811,837 (GRCm39)	missense
R9448:Fam149a	UTSW	8	45,792,411 (GRCm39)	critical splice acceptor site	probably null
R9704:Fam149a	UTSW	8	45,795,502 (GRCm39)	missense	probably benign	0.24
R9794:Fam149a	UTSW	8	45,834,449 (GRCm39)	missense	possibly damaging	0.47
Z1176:Fam149a	UTSW	8	45,795,495 (GRCm39)	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