Mutagenetix > Incidental Mutation

Incidental Mutation 'R3883:Gm15446'

308813

Institutional Source

Beutler Lab

Gene Symbol

Gm15446

Ensembl Gene

ENSMUSG00000090015

Gene Name

predicted gene 15446

Synonyms

MMRRC Submission

040796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3883 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

110081429-110089576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110088313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 9 (V9L)

Ref Sequence

ENSEMBL: ENSMUSP00000108163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112544] [ENSMUST00000170826]

AlphaFold

D3Z5Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000112544
AA Change: V9L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: V9L

Domain	Start	End	E-Value	Type
KRAB	4	60	1.74e-14	SMART
ZnF_C2H2	103	125	1.1e-2	SMART
ZnF_C2H2	131	153	1.67e-2	SMART
ZnF_C2H2	159	181	4.87e-4	SMART
ZnF_C2H2	187	209	3.39e-3	SMART
ZnF_C2H2	215	237	1.76e-1	SMART
ZnF_C2H2	243	265	1.3e-4	SMART
ZnF_C2H2	271	293	1.1e-2	SMART
ZnF_C2H2	299	321	2.27e-4	SMART
ZnF_C2H2	327	349	6.99e-5	SMART
ZnF_C2H2	355	377	5.21e-4	SMART
ZnF_C2H2	383	405	9.73e-4	SMART
ZnF_C2H2	411	433	3.39e-3	SMART
ZnF_C2H2	439	461	1.58e-3	SMART
ZnF_C2H2	467	489	5.14e-3	SMART
ZnF_C2H2	495	517	2.61e-4	SMART
ZnF_C2H2	523	545	3.21e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146564

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170826
AA Change: V8L

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127438
Gene: ENSMUSG00000090015
AA Change: V8L

Domain	Start	End	E-Value	Type
KRAB	3	59	1.74e-14	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	C	T	8: 46,980,228 (GRCm39)	S423L	probably benign	Het
Ankmy1	T	G	1: 92,813,874 (GRCm39)	E435A	probably damaging	Het
Ano5	T	A	7: 51,216,052 (GRCm39)	M343K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
C3	T	C	17: 57,524,173 (GRCm39)		probably null	Het
Cdk17	T	C	10: 93,047,939 (GRCm39)		probably null	Het
Cntn2	A	G	1: 132,456,677 (GRCm39)	V123A	probably damaging	Het
Cracd	T	A	5: 77,004,421 (GRCm39)	W261R	unknown	Het
Dchs1	A	G	7: 105,411,770 (GRCm39)	Y1449H	probably damaging	Het
Ddx42	T	A	11: 106,138,518 (GRCm39)	N772K	probably benign	Het
Dnah11	T	C	12: 117,942,188 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,455,382 (GRCm39)	F4L	probably benign	Het
Epb41l3	C	T	17: 69,581,111 (GRCm39)	R552*	probably null	Het
Epc1	T	C	18: 6,452,258 (GRCm39)	D267G	possibly damaging	Het
Fbxo22	A	T	9: 55,130,546 (GRCm39)	T169S	probably benign	Het
Fmnl1	A	G	11: 103,072,940 (GRCm39)	N144D	probably damaging	Het
Folh1	A	G	7: 86,424,864 (GRCm39)	L35P	possibly damaging	Het
Gm10220	A	C	5: 26,321,908 (GRCm39)	S255A	possibly damaging	Het
Hipk2	A	G	6: 38,676,200 (GRCm39)	L1011P	probably damaging	Het
Kif4-ps	G	T	12: 101,112,473 (GRCm39)	V201L	probably damaging	Het
Klk1b16	T	C	7: 43,788,887 (GRCm39)	V40A	possibly damaging	Het
Lgsn	C	A	1: 31,215,540 (GRCm39)	D3E	probably benign	Het
Mavs	T	C	2: 131,087,218 (GRCm39)	S239P	probably benign	Het
Mrtfb	T	A	16: 13,219,322 (GRCm39)	V667D	probably damaging	Het
Mtrf1	A	G	14: 79,656,707 (GRCm39)	Y403C	probably damaging	Het
Mycbp2	A	C	14: 103,532,686 (GRCm39)	L390V	probably damaging	Het
Neto2	A	G	8: 86,389,894 (GRCm39)	S190P	probably damaging	Het
Ngly1	A	G	14: 16,270,574 (GRCm38)	I195V	probably damaging	Het
Or10d4c	A	G	9: 39,558,420 (GRCm39)	I133V	probably benign	Het
Or13p5	T	C	4: 118,591,882 (GRCm39)	I52T	probably benign	Het
Pde4dip	T	C	3: 97,620,504 (GRCm39)	K1632E	probably damaging	Het
Pigk	T	C	3: 152,419,832 (GRCm39)	S21P	probably benign	Het
Rabggtb	A	G	3: 153,616,417 (GRCm39)	F82L	probably damaging	Het
Reep6	G	A	10: 80,171,369 (GRCm39)	R415Q	probably benign	Het
Serpinb13	T	C	1: 106,926,302 (GRCm39)	V159A	probably benign	Het
Slc5a8	T	A	10: 88,738,325 (GRCm39)	M196K	possibly damaging	Het
Sprr1a	G	A	3: 92,391,827 (GRCm39)	P58L	probably damaging	Het
Taf1a	A	T	1: 183,172,288 (GRCm39)	T10S	possibly damaging	Het
Tap1	T	A	17: 34,412,232 (GRCm39)	V479E	probably damaging	Het
Trpm4	C	T	7: 44,971,422 (GRCm39)		probably null	Het
Ush2a	T	C	1: 187,995,579 (GRCm39)	Y117H	probably benign	Het
Vmn2r58	A	T	7: 41,513,914 (GRCm39)	L243*	probably null	Het
Zbtb32	A	G	7: 30,290,569 (GRCm39)	I242T	probably benign	Het
Zbtb7a	T	C	10: 80,983,859 (GRCm39)	C434R	probably damaging	Het

Other mutations in Gm15446

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Gm15446	APN	5	110,088,668 (GRCm39)	makesense	probably null
R0278:Gm15446	UTSW	5	110,091,281 (GRCm39)	missense	probably benign	0.14
R0606:Gm15446	UTSW	5	110,091,347 (GRCm39)	missense	probably benign
R1608:Gm15446	UTSW	5	110,090,323 (GRCm39)	missense	probably damaging	1.00
R1874:Gm15446	UTSW	5	110,090,419 (GRCm39)	missense	probably damaging	0.99
R1892:Gm15446	UTSW	5	110,091,253 (GRCm39)	missense	probably damaging	1.00
R2000:Gm15446	UTSW	5	110,090,677 (GRCm39)	missense	possibly damaging	0.67
R2059:Gm15446	UTSW	5	110,090,362 (GRCm39)	missense	probably damaging	1.00
R3083:Gm15446	UTSW	5	110,091,158 (GRCm39)	missense	possibly damaging	0.48
R4086:Gm15446	UTSW	5	110,091,121 (GRCm39)	missense	probably benign	0.02
R4095:Gm15446	UTSW	5	110,088,590 (GRCm39)	splice site	probably null
R4459:Gm15446	UTSW	5	110,091,107 (GRCm39)	missense	probably benign	0.03
R4721:Gm15446	UTSW	5	110,090,866 (GRCm39)	missense	probably damaging	1.00
R4735:Gm15446	UTSW	5	110,090,818 (GRCm39)	missense	probably damaging	1.00
R5229:Gm15446	UTSW	5	110,091,036 (GRCm39)	missense	probably damaging	1.00
R5502:Gm15446	UTSW	5	110,088,364 (GRCm39)	nonsense	probably null
R6116:Gm15446	UTSW	5	110,090,902 (GRCm39)	missense	probably damaging	1.00
R6166:Gm15446	UTSW	5	110,090,646 (GRCm39)	nonsense	probably null
R6322:Gm15446	UTSW	5	110,091,383 (GRCm39)	missense	probably damaging	1.00
R7871:Gm15446	UTSW	5	110,091,165 (GRCm39)	nonsense	probably null
R7939:Gm15446	UTSW	5	110,090,360 (GRCm39)	missense	probably benign	0.22
R8045:Gm15446	UTSW	5	110,088,394 (GRCm39)	missense	probably damaging	1.00
R8069:Gm15446	UTSW	5	110,088,306 (GRCm39)	nonsense	probably null
R8528:Gm15446	UTSW	5	110,090,896 (GRCm39)	missense	possibly damaging	0.95
R9074:Gm15446	UTSW	5	110,091,299 (GRCm39)	missense	probably damaging	1.00
R9198:Gm15446	UTSW	5	110,090,743 (GRCm39)	missense	probably damaging	1.00
R9604:Gm15446	UTSW	5	110,088,314 (GRCm39)	missense	probably damaging	1.00
R9706:Gm15446	UTSW	5	110,091,161 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAGTTTCCTTCTAAGATGACTTGG -3'
(R):5'- AGTACCAGGACACATGAACATT -3'

Sequencing Primer
(F):5'- gtgtgggaaataccagaatca -3'
(R):5'- GGACACATGAACATTTCTTCAGAGGC -3'

Posted On

2015-04-17