Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Fam196a'

651593

Institutional Source

Beutler Lab

Gene Symbol

Fam196a

Ensembl Gene

ENSMUSG00000073805

Gene Name

family with sequence similarity 196, member A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134881926-134938430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 134917698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 368 (K368Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129222 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000171394
AA Change: K368Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805
AA Change: K368Q

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

Meta Mutation Damage Score

0.1384

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	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
R1421:Fam196a	UTSW	7	134899231	splice site	probably benign
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
R8930:Fam196a	UTSW	7	134899152	missense	probably damaging	0.99
R8932:Fam196a	UTSW	7	134899152	missense	probably damaging	0.99
R9230:Fam196a	UTSW	7	134918710	nonsense	probably null
R9586:Fam196a	UTSW	7	134918451	missense	probably damaging	1.00
Z1176:Fam196a	UTSW	7	134918706	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAACCAACGAATGAGTATCAGAG -3'
(R):5'- ACCTGTCCCCAGAATGTAGC -3'

Sequencing Primer
(F):5'- TGACCCTTGTCAGACTGCAG -3'
(R):5'- TGTCCCCAGAATGTAGCGAACAG -3'

Posted On

2020-09-15