Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Gm15446'

228450

Institutional Source

Beutler Lab

Gene Symbol

Gm15446

Ensembl Gene

ENSMUSG00000090015

Gene Name

predicted gene 15446

Synonyms

MMRRC Submission

040064-MU

Accession Numbers

Essential gene?

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

Stock #

R2059 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

110081429-110089576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110090362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 205 (H205Y)

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: H205Y

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

SMART Domains

Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: H205Y

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	G	A	5: 30,404,489 (GRCm39)	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,366,274 (GRCm39)	L42F	probably damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,714,506 (GRCm39)	V118A	probably benign	Het
Ano1	G	C	7: 144,165,127 (GRCm39)	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,258,977 (GRCm39)		probably null	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atf7ip	T	G	6: 136,586,346 (GRCm39)		probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Baz2a	T	A	10: 127,949,447 (GRCm39)	S347R	probably damaging	Het
C2cd3	T	C	7: 100,104,700 (GRCm39)		probably benign	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpj	G	A	14: 56,801,412 (GRCm39)	P187L	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,778,841 (GRCm39)		probably benign	Het
Cgref1	T	G	5: 31,090,989 (GRCm39)	D275A	possibly damaging	Het
Clgn	A	C	8: 84,126,607 (GRCm39)	N103H	probably benign	Het
Corin	A	G	5: 72,473,394 (GRCm39)	V905A	possibly damaging	Het
Csta1	A	C	16: 35,942,692 (GRCm39)	D72E	probably benign	Het
Cul5	A	T	9: 53,578,456 (GRCm39)	L44Q	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,080,197 (GRCm39)		probably null	Het
Enoph1	A	G	5: 100,207,078 (GRCm39)	D55G	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fhip2b	A	G	14: 70,822,489 (GRCm39)	V744A	possibly damaging	Het
Foxi2	G	T	7: 135,012,406 (GRCm39)	G98V	probably damaging	Het
Galr2	T	C	11: 116,173,765 (GRCm39)	S132P	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gm21775	T	A	Y: 10,553,910 (GRCm39)	I153N	probably benign	Het
Grip1	A	G	10: 119,874,603 (GRCm39)	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Herc2	T	A	7: 55,813,645 (GRCm39)	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,892,555 (GRCm39)	D256G	probably benign	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Irf2	A	T	8: 47,260,380 (GRCm39)	N104I	probably damaging	Het
Kat6a	A	G	8: 23,429,321 (GRCm39)	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,555,199 (GRCm39)	F661L	probably benign	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,619,514 (GRCm39)	E209G	probably damaging	Het
Lama3	A	T	18: 12,661,390 (GRCm39)	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,839,877 (GRCm39)	E65*	probably null	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msl3l2	T	A	10: 55,992,040 (GRCm39)	L255Q	probably damaging	Het
Mx1	T	A	16: 97,255,379 (GRCm39)	K225*	probably null	Het
Nf1	T	C	11: 79,447,549 (GRCm39)	V435A	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Nop2	T	A	6: 125,116,823 (GRCm39)	M359K	probably null	Het
Nox1	T	C	X: 132,995,993 (GRCm39)		probably benign	Het
Ogdhl	G	A	14: 32,054,841 (GRCm39)	R263K	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or2y16	T	A	11: 49,335,278 (GRCm39)	V200E	probably damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptprk	T	A	10: 28,442,599 (GRCm39)	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,322 (GRCm39)		probably benign	Het
Rab3c	A	G	13: 110,397,050 (GRCm39)	V72A	probably damaging	Het
Rbms2	A	G	10: 127,973,387 (GRCm39)	S251P	probably benign	Het
Rfwd3	A	G	8: 112,024,127 (GRCm39)	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,186,397 (GRCm39)	Y211F	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Scg3	T	C	9: 75,572,998 (GRCm39)	D311G	probably damaging	Het
Sdk2	C	A	11: 113,745,158 (GRCm39)	M712I	probably damaging	Het
Serinc2	T	G	4: 130,154,578 (GRCm39)	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,831,643 (GRCm39)	T40S	probably damaging	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc7a3	A	G	X: 100,124,373 (GRCm39)	V464A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Spata13	A	C	14: 60,997,040 (GRCm39)	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Stat5b	A	T	11: 100,678,158 (GRCm39)	S652T	probably benign	Het
Stom	A	G	2: 35,206,037 (GRCm39)	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,682,892 (GRCm39)	Y18H	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,199,773 (GRCm39)	I457N	probably damaging	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,113,746 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Ust	A	G	10: 8,083,330 (GRCm39)	Y349H	probably damaging	Het
V1rd19	A	T	7: 23,703,259 (GRCm39)	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,589,186 (GRCm39)	M123L	probably benign	Het
Vps13c	A	T	9: 67,768,115 (GRCm39)	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,358,172 (GRCm39)	D81G	probably damaging	Het
Zfp318	G	A	17: 46,707,950 (GRCm39)	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,611,716 (GRCm39)	S416P	possibly 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
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
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'- GCCTATTCACGACACAGCAT -3'
(R):5'- AGAGGCAAAGGATTTAGTACACTGC -3'

Sequencing Primer
(F):5'- TGTGATAAAGCCTATTCACGACACAG -3'
(R):5'- TGTGTACGGAGACTGGCATTACATAC -3'

Posted On

2014-09-17