Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Gm15446'

490137

Institutional Source

Beutler Lab

Gene Symbol

Gm15446

Ensembl Gene

ENSMUSG00000090015

Gene Name

predicted gene 15446

Synonyms

MMRRC Submission

044312-MU

Accession Numbers

Essential gene?

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

Stock #

R6166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110081429-110089576 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 110090646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 299 (Y299*)

Ref Sequence

ENSEMBL: ENSMUSP00000108163 (fasta)

Gene Model

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

AlphaFold

D3Z5Y8

Predicted Effect

probably null
Transcript: ENSMUST00000112544
AA Change: Y299*

SMART Domains

Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: Y299*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	T	12: 84,039,378 (GRCm39)	N296Y	probably damaging	Het
Ago2	T	A	15: 72,996,089 (GRCm39)	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,329,288 (GRCm39)		probably null	Het
Ap1ar	A	G	3: 127,606,177 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,107,423 (GRCm39)	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,525,699 (GRCm39)	H1966Q	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atg13	G	T	2: 91,506,736 (GRCm39)	Q479K	probably damaging	Het
Bmp8a	T	C	4: 123,218,471 (GRCm39)	T183A	probably benign	Het
Camta2	G	C	11: 70,565,087 (GRCm39)		probably null	Het
Catspere2	A	G	1: 177,931,403 (GRCm39)	T441A	unknown	Het
Ccdc40	T	C	11: 119,122,827 (GRCm39)	S210P	probably benign	Het
Cnn2	A	G	10: 79,824,561 (GRCm39)	E17G	possibly damaging	Het
Cnot6l	T	C	5: 96,227,799 (GRCm39)	D478G	possibly damaging	Het
Cplane1	A	G	15: 8,216,044 (GRCm39)	H478R	probably benign	Het
Csf2rb	A	G	15: 78,228,766 (GRCm39)	Y369C	probably damaging	Het
Dll4	A	G	2: 119,165,107 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,780,316 (GRCm39)	V1039A	probably benign	Het
Fam117a	T	C	11: 95,271,607 (GRCm39)	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,532,212 (GRCm39)	N508K	possibly damaging	Het
Fat1	T	C	8: 45,405,522 (GRCm39)	S758P	probably damaging	Het
Fgf20	T	C	8: 40,732,881 (GRCm39)	K186E	probably damaging	Het
Filip1	T	C	9: 79,726,736 (GRCm39)	K628E	probably damaging	Het
Fsip2	G	T	2: 82,811,071 (GRCm39)	K2463N	probably benign	Het
Gm7363	A	T	7: 3,986,784 (GRCm39)		noncoding transcript	Het
Gpx5	A	T	13: 21,473,435 (GRCm39)	F104I	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,259,274 (GRCm39)	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,862,184 (GRCm39)	A134T	probably benign	Het
Lrba	G	A	3: 86,261,614 (GRCm39)		probably null	Het
Lypd10	A	T	7: 24,413,644 (GRCm39)	Q220L	probably benign	Het
Naprt	T	C	15: 75,763,326 (GRCm39)	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,466,060 (GRCm39)		probably benign	Het
Nodal	C	A	10: 61,260,337 (GRCm39)	S329R	probably damaging	Het
Olfm3	T	A	3: 114,916,074 (GRCm39)	N315K	probably damaging	Het
Or4k2	C	T	14: 50,424,225 (GRCm39)	V150I	probably benign	Het
Or6c3b	A	T	10: 129,527,148 (GRCm39)	I254K	probably damaging	Het
Or6k2	A	G	1: 173,986,659 (GRCm39)	T107A	probably benign	Het
Plg	T	A	17: 12,617,001 (GRCm39)	V373E	probably damaging	Het
Prdm2	A	C	4: 142,861,306 (GRCm39)	S661R	probably damaging	Het
Psg21	A	T	7: 18,390,664 (GRCm39)		probably benign	Het
Rhobtb2	T	C	14: 70,035,627 (GRCm39)	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,322,543 (GRCm39)	N116K	probably damaging	Het
Sf3a3	T	C	4: 124,617,177 (GRCm39)		probably benign	Homo
Slc38a9	T	G	13: 112,831,801 (GRCm39)	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,058,182 (GRCm39)	D106G	probably benign	Het
Srbd1	T	C	17: 86,406,696 (GRCm39)	Y563C	probably damaging	Het
Src	A	G	2: 157,310,442 (GRCm39)	Y359C	probably damaging	Het
Tbc1d9b	A	G	11: 50,026,673 (GRCm39)	D47G	probably damaging	Het
Tctn3	T	C	19: 40,585,923 (GRCm39)	K541E	possibly damaging	Het
Tgm7	A	G	2: 120,929,539 (GRCm39)	V245A	probably damaging	Het
Thbs2	C	T	17: 14,900,650 (GRCm39)	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,226,681 (GRCm39)	S157P	probably damaging	Het
Trio	C	T	15: 27,818,157 (GRCm39)	S507N	probably damaging	Het
Trrap	T	A	5: 144,718,791 (GRCm39)	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,427,947 (GRCm39)	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,215,189 (GRCm39)	L115P	probably benign	Het
Wdr59	C	T	8: 112,199,293 (GRCm39)	R631H	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
R3883:Gm15446	UTSW	5	110,088,313 (GRCm39)	missense	probably damaging	0.98
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
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'- CTTTGCACGACACAGTCATCTCAA -3'
(R):5'- TGAGAGGCAAAGGATTTAGTACAT -3'

Sequencing Primer
(F):5'- CAGTGTAGTAAAGCCTTTGCAC -3'
(R):5'- GGCAAAGGATTTAGTACATTGCTTAC -3'

Posted On

2017-10-10