Mutagenetix > Incidental Mutation

Incidental Mutation 'R9448:Fam149a'

714068

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 #

R9448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45789754-45835328 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 45792411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091245 (fasta)

Gene Model

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

AlphaFold

Q8CFV2

Predicted Effect

probably null
Transcript: ENSMUST00000093526

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044

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

probably null
Transcript: ENSMUST00000093526

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044

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

probably null
Transcript: ENSMUST00000093526

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044

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

probably benign
Transcript: ENSMUST00000135912

SMART Domains

Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044

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 benign
Transcript: ENSMUST00000155230

SMART Domains

Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,575 (GRCm39)	V685A	possibly damaging	Het
Atg9a	G	T	1: 75,162,849 (GRCm39)	T417K	probably benign	Het
Atp6v1a	T	A	16: 43,931,872 (GRCm39)	K139*	probably null	Het
Baz1b	T	C	5: 135,239,656 (GRCm39)	I252T	probably damaging	Het
Ccdc191	T	A	16: 43,759,338 (GRCm39)	W380R		Het
Cep290	T	G	10: 100,395,546 (GRCm39)	V2118G	probably benign	Het
Crb2	A	G	2: 37,677,773 (GRCm39)	D352G	probably benign	Het
Csmd3	T	C	15: 47,460,315 (GRCm39)	D2581G		Het
Diras2	T	A	13: 52,662,122 (GRCm39)	T62S	possibly damaging	Het
Dmrt1	T	C	19: 25,523,255 (GRCm39)	V202A	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dph7	A	T	2: 24,861,952 (GRCm39)	K455M	probably damaging	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehbp1	T	C	11: 22,087,881 (GRCm39)	N426S	probably benign	Het
Exo5	A	G	4: 120,778,888 (GRCm39)	W326R	probably damaging	Het
Flii	T	C	11: 60,606,393 (GRCm39)	N1099S	probably benign	Het
Flvcr1	T	C	1: 190,744,406 (GRCm39)	T381A	possibly damaging	Het
Foxl1	T	C	8: 121,855,608 (GRCm39)	V303A	probably benign	Het
Fsd1l	G	T	4: 53,694,826 (GRCm39)	E427*	probably null	Het
Galnt18	A	T	7: 111,153,649 (GRCm39)	I325N	probably damaging	Het
Gm5478	T	C	15: 101,553,662 (GRCm39)	N274S	probably damaging	Het
Grm7	A	T	6: 111,335,193 (GRCm39)	T535S	probably benign	Het
Heatr5b	T	C	17: 79,068,015 (GRCm39)	D1791G	probably benign	Het
Igkv12-98	T	C	6: 68,548,156 (GRCm39)	I95T	probably damaging	Het
Il1rl2	A	G	1: 40,366,604 (GRCm39)	Y46C	probably benign	Het
Inhca	G	T	9: 103,149,781 (GRCm39)	Q259K	probably benign	Het
Kdr	T	C	5: 76,102,569 (GRCm39)	E1186G	probably benign	Het
Knstrn	T	C	2: 118,644,975 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,666,455 (GRCm39)	Q1383*	probably null	Het
Mep1a	T	C	17: 43,805,869 (GRCm39)		probably null	Het
Mep1b	A	G	18: 21,217,199 (GRCm39)	D106G	probably damaging	Het
Moxd2	T	C	6: 40,864,160 (GRCm39)	N90S	probably benign	Het
Ms4a4c	T	A	19: 11,392,317 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,000,956 (GRCm39)	M84L	probably benign	Het
Noc2l	C	A	4: 156,320,781 (GRCm39)	R66S	probably benign	Het
Nox4	A	T	7: 87,045,001 (GRCm39)	L580F	unknown	Het
Numb	A	G	12: 83,888,990 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,221 (GRCm39)		probably benign	Het
Or5w13	A	T	2: 87,523,824 (GRCm39)	V134E	probably damaging	Het
Parp8	T	A	13: 117,039,360 (GRCm39)	K274*	probably null	Het
Pcdh1	G	A	18: 38,330,492 (GRCm39)	P976L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pdzk1	A	T	3: 96,761,922 (GRCm39)	D178V	probably damaging	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pip5k1c	A	G	10: 81,141,645 (GRCm39)	E111G	probably damaging	Het
Plcb4	G	A	2: 135,752,045 (GRCm39)	E84K	possibly damaging	Het
Prpf39	T	A	12: 65,108,034 (GRCm39)	Y646N	probably benign	Het
Psmc6	T	C	14: 45,568,483 (GRCm39)	F69L	probably benign	Het
Ptk2	T	A	15: 73,215,041 (GRCm39)	S46C	possibly damaging	Het
Ptpn6	G	A	6: 124,709,771 (GRCm39)	R23W	probably damaging	Het
Ptprb	T	A	10: 116,149,819 (GRCm39)	Y143*	probably null	Het
Qrich2	T	C	11: 116,338,091 (GRCm39)	E141G	probably benign	Het
Rsf1	G	GCCGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,381,127 (GRCm39)	L136P	probably damaging	Het
Slc12a6	T	C	2: 112,179,704 (GRCm39)	F676S	probably damaging	Het
Spata31f1a	A	T	4: 42,850,250 (GRCm39)	Y635*	probably null	Het
Spata31f1e	T	C	4: 42,793,440 (GRCm39)	R231G	probably benign	Het
Spata32	C	T	11: 103,099,648 (GRCm39)	G286R	probably damaging	Het
Tbx19	T	C	1: 164,981,090 (GRCm39)	K135E	probably damaging	Het
Tdrd6	T	C	17: 43,936,567 (GRCm39)	T1494A	probably benign	Het
Tmem62	A	C	2: 120,808,211 (GRCm39)	D71A	probably damaging	Het
Tnfsf15	A	T	4: 63,663,305 (GRCm39)	V6D	possibly damaging	Het
Tulp4	T	C	17: 6,248,948 (GRCm39)	V182A	possibly damaging	Het
Vmn2r73	A	T	7: 85,522,027 (GRCm39)	V104D	probably benign	Het
Zdhhc8	C	A	16: 18,039,558 (GRCm39)	G159C		Het
Zfy2	A	G	Y: 2,109,904 (GRCm39)	W338R	probably damaging	Het
Znfx1	T	G	2: 166,888,844 (GRCm39)	Q788P	probably benign	Het
Zscan26	A	G	13: 21,632,431 (GRCm39)	V100A	probably benign	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
R7088:Fam149a	UTSW	8	45,803,582 (GRCm39)	missense	probably benign	0.08
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
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'- TCCTATTGCCAGGGAGATGAC -3'
(R):5'- GAGAATGCACCTGGGTTTGG -3'

Sequencing Primer
(F):5'- GCCAGGGAGATGACTATATATTCC -3'
(R):5'- GGATACCTTCCCCTTAGTCAGG -3'

Posted On

2022-06-15