Mutagenetix > Incidental Mutations

Incidental Mutation 'R5361:Fam196b'

422818

Institutional Source

Beutler Lab

Gene Symbol

Fam196b

Ensembl Gene

ENSMUSG00000069911

Gene Name

family with sequence similarity 196, member B

Synonyms

Gm6041

MMRRC Submission

042940-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34314822-34422640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34402788 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 277 (E277K)

Ref Sequence

ENSEMBL: ENSMUSP00000129183 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093192
AA Change: E277K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: E277K

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 damaging
Transcript: ENSMUST00000165963
AA Change: E277K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: E277K

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

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	A	9: 57,257,185	K635N	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ahnak	T	A	19: 9,015,341	M4663K	possibly damaging	Het
C4b	T	A	17: 34,741,238	T280S	probably benign	Het
Ccdc166	A	G	15: 75,981,020	V366A	probably benign	Het
Cdh23	A	G	10: 60,657,265		probably null	Het
Col7a1	A	G	9: 108,963,224	T1281A	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,500,849		probably benign	Het
Dbndd1	T	A	8: 123,506,745	D127V	probably damaging	Het
Ddx20	T	A	3: 105,683,509	E197V	probably damaging	Het
Dnm3	A	G	1: 162,010,902	S826P	probably damaging	Het
Dnmt3a	T	C	12: 3,895,643	V24A	probably benign	Het
Dopey2	C	A	16: 93,770,504	A1273E	probably damaging	Het
Dsg1c	T	C	18: 20,283,646	V868A	possibly damaging	Het
Dtx4	A	G	19: 12,485,262		probably null	Het
Elovl4	A	G	9: 83,790,101	L55P	possibly damaging	Het
Fam45a	A	G	19: 60,825,886	M96V	probably benign	Het
Fbxo40	T	A	16: 36,969,552	T399S	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gm14399	T	C	2: 175,131,578	E96G	probably damaging	Het
Gm14496	T	G	2: 182,000,354	V606G	probably benign	Het
Gpr156	A	G	16: 38,005,725	E768G	probably damaging	Het
Grm5	A	T	7: 88,074,496	T665S	probably damaging	Het
Hsdl2	A	G	4: 59,592,301		probably benign	Het
Htt	T	C	5: 34,907,584	V3047A	possibly damaging	Het
Igkv3-2	A	T	6: 70,699,027	T107S	probably benign	Het
Itih2	T	A	2: 10,096,461	T899S	probably benign	Het
Lhcgr	T	A	17: 88,742,853	Y415F	probably damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Med4	C	A	14: 73,510,113	S18*	probably null	Het
Nefl	T	C	14: 68,084,639	V226A	probably damaging	Het
Nploc4	T	A	11: 120,384,563	N516Y	probably damaging	Het
Olfr798	A	T	10: 129,625,732	F110I	probably damaging	Het
Olfr99	A	G	17: 37,279,610	V270A	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdha3	T	G	18: 36,946,699	L165V	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,046	V415D	probably damaging	Het
Pcdhga10	T	C	18: 37,747,450	I88T	probably damaging	Het
Pigyl	T	A	9: 22,157,996	M1K	probably null	Het
Prr27	T	C	5: 87,843,344	S272P	probably damaging	Het
Prss3	C	T	6: 41,373,846	D237N	probably benign	Het
Pstpip2	A	G	18: 77,870,378	D150G	probably damaging	Het
Robo4	T	A	9: 37,413,378	D909E	probably benign	Het
Serpinb3c	A	T	1: 107,276,931	Y28*	probably null	Het
Slc26a3	T	C	12: 31,450,981		probably null	Het
Slc6a1	A	T	6: 114,302,532	I91F	probably benign	Het
Smcr8	T	G	11: 60,778,292	Y89D	probably damaging	Het
Sspo	T	A	6: 48,466,313	M1898K	probably benign	Het
Tbl1xr1	T	A	3: 22,192,069	I251K	probably damaging	Het
Thbs4	C	T	13: 92,776,993	D140N	probably benign	Het
Tmbim6	G	A	15: 99,405,752	A108T	probably benign	Het
Trim10	T	G	17: 36,875,436	L301R	probably benign	Het
Trpm7	A	T	2: 126,829,241	I607N	possibly damaging	Het
Vmn2r9	T	A	5: 108,848,063	I240F	probably damaging	Het
Xpot	T	A	10: 121,600,860	I873F	possibly damaging	Het
Zfhx4	G	A	3: 5,399,207	S1475N	probably damaging	Het
Zfp712	A	G	13: 67,041,015	S483P	possibly damaging	Het
Zswim7	A	T	11: 62,267,547	H122Q	probably benign	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
R4231:Fam196b	UTSW	11	34403143	missense	probably benign	0.01
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
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
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'- CAACCTGGGAAGCTAGAGAGTC -3'
(R):5'- CTGCTACTTCTGAGTGACTCCAG -3'

Sequencing Primer
(F):5'- GGAAGCTAGAGAGTCGGCTC -3'
(R):5'- TCTGAGTGACTCCAGGTCCTG -3'

Posted On

2016-08-04