Mutagenetix > Incidental Mutations

Incidental Mutation 'R5229:Gm15446'

403654

Institutional Source

Beutler Lab

Gene Symbol

Gm15446

Ensembl Gene

ENSMUSG00000090015

Gene Name

predicted gene 15446

Synonyms

MMRRC Submission

042802-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109923400-109943936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 109943170 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 429 (H429Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108163 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112544
AA Change: H429Q

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

SMART Domains

Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: H429Q

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

probably benign
Transcript: ENSMUST00000170826

SMART Domains

Protein: ENSMUSP00000127438
Gene: ENSMUSG00000090015

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	C	1: 16,080,959		probably benign	Het
4930562C15Rik	A	G	16: 4,850,051	I435M	possibly damaging	Het
8430408G22Rik	T	C	6: 116,652,031	S112P	possibly damaging	Het
Adcy5	A	G	16: 35,269,070	I546V	probably damaging	Het
Apob	A	G	12: 7,977,806	T10A	probably benign	Het
Brwd1	C	A	16: 96,002,209	D2254Y	possibly damaging	Het
Bub1b	C	A	2: 118,629,989	D600E	probably damaging	Het
C87499	T	C	4: 88,630,135	D11G	possibly damaging	Het
Cnga1	A	G	5: 72,609,500	S199P	probably damaging	Het
Cyp3a11	G	T	5: 145,855,135	L483I	probably benign	Het
Dpysl3	C	A	18: 43,332,951	G457V	probably damaging	Het
Eif4g3	C	A	4: 138,096,794	P36T	possibly damaging	Het
Epb41	C	A	4: 131,978,935	G415C	probably damaging	Het
Erap1	G	A	13: 74,660,375	V69M	possibly damaging	Het
F2	A	T	2: 91,630,241	Y301*	probably null	Het
F2rl2	A	T	13: 95,700,687	N80I	possibly damaging	Het
Gm8773	A	T	5: 5,575,565	Y87F	possibly damaging	Het
Gpat3	G	A	5: 100,883,424	G148D	probably damaging	Het
Gpr26	A	T	7: 131,984,247	R315S	probably damaging	Het
Hdac9	A	C	12: 34,437,164	H100Q	probably damaging	Het
Heatr5a	A	T	12: 51,947,978	V457D	probably benign	Het
Igkv10-96	A	G	6: 68,632,239	M24T	possibly damaging	Het
Igkv2-95-2	A	G	6: 68,648,111		noncoding transcript	Het
Kdm4a	G	A	4: 118,146,605	S758F	probably damaging	Het
Lrg1	A	G	17: 56,120,154	W273R	probably damaging	Het
Man2a1	A	T	17: 64,710,734	Q658H	probably benign	Het
Mapkapk5	T	C	5: 121,533,391		probably null	Het
Mcm6	T	C	1: 128,333,584	D761G	possibly damaging	Het
Myh8	A	T	11: 67,284,484	Y286F	probably damaging	Het
Nbn	C	T	4: 15,963,893	T98I	probably damaging	Het
Nrd1	T	C	4: 109,049,108	S685P	probably damaging	Het
Nudcd3	A	G	11: 6,193,238	V80A	probably benign	Het
Olfr121	A	G	17: 37,752,301	H149R	probably benign	Het
Olfr474	A	G	7: 107,955,169	H176R	probably damaging	Het
Pdcd6ip	A	T	9: 113,678,333	M390K	probably damaging	Het
Pon1	C	T	6: 5,177,295	V205I	possibly damaging	Het
Ppp4r2	C	A	6: 100,865,215	H212Q	probably benign	Het
Prl2c5	G	A	13: 13,185,856	C33Y	probably damaging	Het
Rbak	A	G	5: 143,174,162	F379L	probably damaging	Het
Rcc2	G	A	4: 140,717,029	D344N	probably damaging	Het
Rgs3	T	C	4: 62,702,187	L550P	probably damaging	Het
Rnasek	A	T	11: 70,239,660	M25K	probably damaging	Het
Scgb1b24	A	T	7: 33,744,095	T60S	possibly damaging	Het
Scn5a	A	G	9: 119,535,976	F392S	probably damaging	Het
Scpep1	A	T	11: 88,937,045	V209E	probably damaging	Het
Slc35g1	A	G	19: 38,402,632		probably null	Het
Sorbs1	A	G	19: 40,340,707	I554T	probably damaging	Het
Spats1	A	G	17: 45,466,133		probably benign	Het
Tdp1	A	G	12: 99,893,660	Q202R	probably damaging	Het
Trav6-5	T	G	14: 53,491,588	S102A	probably damaging	Het
Tspan2	T	C	3: 102,768,899	M208T	probably damaging	Het
Ube4b	A	G	4: 149,387,178	S84P	probably damaging	Het
Vmn1r237	C	A	17: 21,314,371	Q119K	probably benign	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Zfp65	A	T	13: 67,708,810	S117T	probably benign	Het

Other mutations in Gm15446

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Gm15446	APN	5	109940802	makesense	probably null
R0278:Gm15446	UTSW	5	109943415	missense	probably benign	0.14
R0606:Gm15446	UTSW	5	109943481	missense	probably benign
R1608:Gm15446	UTSW	5	109942457	missense	probably damaging	1.00
R1874:Gm15446	UTSW	5	109942553	missense	probably damaging	0.99
R1892:Gm15446	UTSW	5	109943387	missense	probably damaging	1.00
R2000:Gm15446	UTSW	5	109942811	missense	possibly damaging	0.67
R2059:Gm15446	UTSW	5	109942496	missense	probably damaging	1.00
R3083:Gm15446	UTSW	5	109943292	missense	possibly damaging	0.48
R3883:Gm15446	UTSW	5	109940447	missense	probably damaging	0.98
R4086:Gm15446	UTSW	5	109943255	missense	probably benign	0.02
R4095:Gm15446	UTSW	5	109940724	splice site	probably null
R4459:Gm15446	UTSW	5	109943241	missense	probably benign	0.03
R4721:Gm15446	UTSW	5	109943000	missense	probably damaging	1.00
R4735:Gm15446	UTSW	5	109942952	missense	probably damaging	1.00
R5502:Gm15446	UTSW	5	109940498	nonsense	probably null
R6116:Gm15446	UTSW	5	109943036	missense	probably damaging	1.00
R6166:Gm15446	UTSW	5	109942780	nonsense	probably null
R6322:Gm15446	UTSW	5	109943517	missense	probably damaging	1.00
R7871:Gm15446	UTSW	5	109943299	nonsense	probably null
R7939:Gm15446	UTSW	5	109942494	missense	probably benign	0.22
R8045:Gm15446	UTSW	5	109940528	missense	probably damaging	1.00
R8069:Gm15446	UTSW	5	109940440	nonsense	probably null
R8528:Gm15446	UTSW	5	109943030	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCAGTGTACTAAATCCTTTGCC -3'
(R):5'- TGCCACATTGCTCACATTCATAGG -3'

Sequencing Primer
(F):5'- TTCATACTGGCGAGAAACCTTAC -3'
(R):5'- ACATTGCTCACATTCATAGGGTTTC -3'

Posted On

2016-07-22