Mutagenetix > Incidental Mutations

Incidental Mutation 'R1421:Fam196a'

159815

Institutional Source

Beutler Lab

Gene Symbol

Fam196a

Ensembl Gene

ENSMUSG00000073805

Gene Name

family with sequence similarity 196, member A

Synonyms

MMRRC Submission

039477-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134881926-134938430 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 134899231 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000171394]

Predicted Effect

probably benign
Transcript: ENSMUST00000084488

SMART Domains

Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325

Domain	Start	End	E-Value	Type
SH3	12	69	7.57e-17	SMART
Pfam:DOCK_N	72	416	1.7e-113	PFAM
Pfam:DOCK-C2	421	618	1.2e-61	PFAM
low complexity region	628	639	N/A	INTRINSIC
Pfam:DHR-2	1111	1610	3.3e-102	PFAM
low complexity region	1639	1664	N/A	INTRINSIC
low complexity region	1683	1701	N/A	INTRINSIC
low complexity region	1756	1773	N/A	INTRINSIC
low complexity region	1823	1857	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171394

SMART Domains

Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805

Domain	Start	End	E-Value	Type
Pfam:FAM196	1	470	4.7e-205	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210617

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

96% (54/56)

MGI Phenotype

Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.,NO_PHENOTYPE

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	A	G	10: 116,113,438	V61A	probably damaging	Het
A2ml1	T	C	6: 128,543,960	T1344A	probably benign	Het
Abcf1	G	A	17: 35,960,909	A375V	probably damaging	Het
Adam20	T	A	8: 40,796,747	H631Q	possibly damaging	Het
Adcy10	T	C	1: 165,563,947	S1258P	probably damaging	Het
Agtpbp1	A	G	13: 59,495,575	I717T	possibly damaging	Het
Ahnak	T	A	19: 9,015,631	F4760I	possibly damaging	Het
Ano6	A	G	15: 95,913,385	K122R	probably benign	Het
Arhgap5	T	C	12: 52,516,848	C201R	probably damaging	Het
Atg16l1	T	C	1: 87,786,358		probably benign	Het
Cdhr3	A	T	12: 33,060,292	I331K	probably damaging	Het
Coq8a	A	G	1: 180,170,441		probably benign	Het
Crebbp	A	G	16: 4,124,647	V662A	probably damaging	Het
Cspg4	T	A	9: 56,896,626	M1667K	probably benign	Het
Dnah7a	A	G	1: 53,540,873		probably benign	Het
Dnajc6	A	T	4: 101,611,316	Y251F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,011	M133K	probably benign	Het
Emb	T	C	13: 117,272,088	Y322H	probably benign	Het
Gcm1	A	T	9: 78,059,700	H67L	probably damaging	Het
Gls2	A	T	10: 128,201,348	K253*	probably null	Het
Gm28042	T	A	2: 120,036,463	S196T	probably benign	Het
Gm43302	T	C	5: 105,217,349	T598A	probably benign	Het
Gramd1a	T	A	7: 31,142,866	Q90L	probably damaging	Het
Grhl2	A	G	15: 37,309,716	Y352C	probably damaging	Het
Ifi203-ps	T	C	1: 173,797,997		noncoding transcript	Het
Ifitm2	T	C	7: 140,955,059	I121V	probably benign	Het
Kptn	T	G	7: 16,123,024		probably benign	Het
L2hgdh	C	T	12: 69,701,318	D345N	probably benign	Het
Lgals12	T	C	19: 7,606,714	H6R	probably benign	Het
Lrrc4b	A	G	7: 44,461,051	I116V	probably benign	Het
Misp	A	G	10: 79,826,847	D366G	probably damaging	Het
Nav1	T	C	1: 135,585,010	E104G	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Parp1	T	C	1: 180,600,088		probably benign	Het
Pikfyve	G	A	1: 65,271,311	G1919D	probably damaging	Het
Pomt1	A	G	2: 32,236,753		probably benign	Het
Prrc2b	C	T	2: 32,200,978	S454F	possibly damaging	Het
Selenbp1	T	C	3: 94,943,872	S360P	probably benign	Het
Slc6a12	T	A	6: 121,359,126	I352N	probably damaging	Het
Snx9	G	A	17: 5,902,484	G197D	probably benign	Het
Ston1	T	C	17: 88,635,793	V209A	probably benign	Het
Tex36	A	T	7: 133,595,349		probably null	Het
Tnnt3	A	G	7: 142,511,366	E108G	probably damaging	Het
Vmn2r98	T	A	17: 19,065,178	F87I	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr64	T	C	1: 175,767,150	I479T	possibly damaging	Het
Xrcc5	A	G	1: 72,310,477	N22D	probably benign	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp735	C	A	11: 73,710,697	L156I	probably benign	Het
Zfp820	A	T	17: 21,819,880	Y156N	possibly damaging	Het

Other mutations in Fam196a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01504:Fam196a	APN	7	134917940	missense	probably benign	0.15
IGL02380:Fam196a	APN	7	134899144	critical splice donor site	probably null
R0557:Fam196a	UTSW	7	134918705	missense	probably damaging	1.00
R1691:Fam196a	UTSW	7	134918286	missense	probably damaging	1.00
R1726:Fam196a	UTSW	7	134899138	splice site	probably benign
R2045:Fam196a	UTSW	7	134918430	missense	probably damaging	1.00
R2259:Fam196a	UTSW	7	134917667	missense	probably damaging	1.00
R3078:Fam196a	UTSW	7	134918021	missense	probably benign	0.15
R3851:Fam196a	UTSW	7	134884526	missense	probably benign	0.23
R4619:Fam196a	UTSW	7	134918541	missense	probably damaging	1.00
R4663:Fam196a	UTSW	7	134899148	nonsense	probably null
R5024:Fam196a	UTSW	7	134918478	missense	probably damaging	1.00
R5067:Fam196a	UTSW	7	134918555	missense	probably benign	0.01
R5195:Fam196a	UTSW	7	134884416	missense	probably damaging	1.00
R5708:Fam196a	UTSW	7	134918796	missense	probably damaging	1.00
R6195:Fam196a	UTSW	7	134918648	missense	probably damaging	1.00
R7151:Fam196a	UTSW	7	134918645	missense	probably damaging	1.00
R7414:Fam196a	UTSW	7	134918009	missense	probably benign	0.06
Z1176:Fam196a	UTSW	7	134918706	missense	not run

Predicted Primers

PCR Primer
(F):5'- TTTGGTCTGATGGAATCTTCCCAGC -3'
(R):5'- ACTCCCCGTGCTTATAACGCAATC -3'

Sequencing Primer
(F):5'- ATGGAATCTTCCCAGCATGGC -3'
(R):5'- CAGTGACATCTTGGCTGTAGAC -3'

Posted On

2014-03-14