Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Fam196b'

320865

Institutional Source

Beutler Lab

Gene Symbol

Fam196b

Ensembl Gene

ENSMUSG00000069911

Gene Name

family with sequence similarity 196, member B

Synonyms

Gm6041

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34314822-34422640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34403143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 395 (E395V)

Ref Sequence

ENSEMBL: ENSMUSP00000129183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093192] [ENSMUST00000093193] [ENSMUST00000101364] [ENSMUST00000101365] [ENSMUST00000165963]

AlphaFold

Q6GQV1

Predicted Effect

probably benign
Transcript: ENSMUST00000093192
AA Change: E395V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: E395V

Domain	Start	End	E-Value	Type
Pfam:FAM196	1	535	3.6e-196	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093193

SMART Domains

Protein: ENSMUSP00000090884
Gene: ENSMUSG00000020143

Domain	Start	End	E-Value	Type
SH3	11	68	1.22e-11	SMART
Pfam:DOCK_N	71	414	2e-113	PFAM
Pfam:DOCK-C2	419	616	1e-60	PFAM
Pfam:DHR-2	1114	1614	6.3e-96	PFAM
low complexity region	1691	1706	N/A	INTRINSIC
low complexity region	1793	1800	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101364

Predicted Effect

probably benign
Transcript: ENSMUST00000101365

SMART Domains

Protein: ENSMUSP00000098916
Gene: ENSMUSG00000020143

Domain	Start	End	E-Value	Type
SH3	11	68	1.22e-11	SMART
Pfam:DOCK_N	71	414	1.4e-113	PFAM
Pfam:DOCK-C2	419	616	5.5e-61	PFAM
low complexity region	1163	1171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165963
AA Change: E395V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: E395V

Domain	Start	End	E-Value	Type
Pfam:FAM196	3	535	1.3e-168	PFAM

Meta Mutation Damage Score

0.1003

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Fam196b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Fam196b	APN	11	34403011	missense	probably benign
IGL01867:Fam196b	APN	11	34403065	missense	probably benign	0.39
PIT4677001:Fam196b	UTSW	11	34403122	missense	probably benign
R0317:Fam196b	UTSW	11	34402826	missense	possibly damaging	0.94
R1165:Fam196b	UTSW	11	34402740	missense	probably benign
R1710:Fam196b	UTSW	11	34404263	splice site	probably null
R2083:Fam196b	UTSW	11	34402141	missense	probably benign	0.01
R2096:Fam196b	UTSW	11	34402936	missense	probably benign	0.03
R3820:Fam196b	UTSW	11	34403007	missense	probably benign	0.01
R3821:Fam196b	UTSW	11	34403007	missense	probably benign	0.01
R3822:Fam196b	UTSW	11	34403007	missense	probably benign	0.01
R3969:Fam196b	UTSW	11	34419739	missense	probably damaging	0.99
R3970:Fam196b	UTSW	11	34419739	missense	probably damaging	0.99
R3980:Fam196b	UTSW	11	34402678	missense	probably benign	0.00
R4092:Fam196b	UTSW	11	34401935	start gained	probably benign
R4678:Fam196b	UTSW	11	34403227	missense	probably damaging	1.00
R4859:Fam196b	UTSW	11	34403154	missense	probably benign	0.31
R4938:Fam196b	UTSW	11	34402231	missense	probably damaging	0.98
R5269:Fam196b	UTSW	11	34402788	missense	probably damaging	1.00
R5287:Fam196b	UTSW	11	34403058	missense	probably benign	0.12
R5358:Fam196b	UTSW	11	34402788	missense	probably damaging	1.00
R5359:Fam196b	UTSW	11	34402788	missense	probably damaging	1.00
R5361:Fam196b	UTSW	11	34402788	missense	probably damaging	1.00
R5362:Fam196b	UTSW	11	34402788	missense	probably damaging	1.00
R5363:Fam196b	UTSW	11	34402788	missense	probably damaging	1.00
R5403:Fam196b	UTSW	11	34403058	missense	probably benign	0.12
R5705:Fam196b	UTSW	11	34404349	missense	probably damaging	1.00
R6282:Fam196b	UTSW	11	34402819	missense	possibly damaging	0.77
R7030:Fam196b	UTSW	11	34402030	missense	probably damaging	0.96
R7069:Fam196b	UTSW	11	34402677	missense	possibly damaging	0.48
R7178:Fam196b	UTSW	11	34402359	missense	probably damaging	0.96
R7180:Fam196b	UTSW	11	34419873	missense	probably damaging	1.00
R7718:Fam196b	UTSW	11	34402539	missense	probably benign	0.00
R7789:Fam196b	UTSW	11	34402537	missense	probably benign
R7832:Fam196b	UTSW	11	34403034	missense	probably benign
R8377:Fam196b	UTSW	11	34401964	missense	probably damaging	1.00
R8930:Fam196b	UTSW	11	34402707	missense	probably benign	0.00
R8932:Fam196b	UTSW	11	34402707	missense	probably benign	0.00
R9407:Fam196b	UTSW	11	34402072	missense	probably damaging	0.99
Z1177:Fam196b	UTSW	11	34402725	missense	probably benign	0.01
Z1177:Fam196b	UTSW	11	34403188	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGACAATCACCAGGACCTG -3'
(R):5'- CAGAAAACAACTCGGCTCAGTG -3'

Sequencing Primer
(F):5'- CCTGGAGTCACTCAGAAGTAGC -3'
(R):5'- AAACAACTCGGCTCAGTGGTTTTTC -3'

Posted On

2015-06-12