Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Gm14325'

426102

Institutional Source

Beutler Lab

Gene Symbol

Gm14325

Ensembl Gene

ENSMUSG00000095362

Gene Name

predicted gene 14325

Synonyms

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R5395 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

177473584-177482129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 177474777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 102 (H102Y)

Ref Sequence

ENSEMBL: ENSMUSP00000104567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108939] [ENSMUST00000150650] [ENSMUST00000188914]

AlphaFold

A2AW67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108939
AA Change: H102Y

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104567
Gene: ENSMUSG00000095362
AA Change: H102Y

Domain	Start	End	E-Value	Type
KRAB	4	64	3.43e-13	SMART
ZnF_C2H2	78	97	1.61e2	SMART
ZnF_C2H2	103	125	4.17e-3	SMART
ZnF_C2H2	131	153	3.34e-2	SMART
ZnF_C2H2	159	181	5.29e-5	SMART
ZnF_C2H2	187	209	6.08e-5	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	243	265	8.02e-5	SMART
ZnF_C2H2	271	293	3.83e-2	SMART
ZnF_C2H2	299	321	5.14e-3	SMART
ZnF_C2H2	327	349	5.14e-3	SMART
ZnF_C2H2	355	377	5.99e-4	SMART
ZnF_C2H2	383	405	1.69e-3	SMART
ZnF_C2H2	411	433	7.37e-4	SMART
ZnF_C2H2	439	461	4.94e-5	SMART
ZnF_C2H2	467	489	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150650

SMART Domains

Protein: ENSMUSP00000118192
Gene: ENSMUSG00000095362

Domain	Start	End	E-Value	Type
KRAB	4	64	3.43e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188914
AA Change: H101Y

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140685
Gene: ENSMUSG00000095362
AA Change: H101Y

Domain	Start	End	E-Value	Type
KRAB	3	63	1.4e-15	SMART
ZnF_C2H2	77	96	6.8e-1	SMART
ZnF_C2H2	102	124	1.8e-5	SMART
ZnF_C2H2	130	152	1.4e-4	SMART
ZnF_C2H2	158	180	2.3e-7	SMART
ZnF_C2H2	186	208	2.5e-7	SMART
ZnF_C2H2	214	236	2.5e-6	SMART
ZnF_C2H2	242	264	3.3e-7	SMART
ZnF_C2H2	270	292	1.6e-4	SMART
ZnF_C2H2	298	320	2.1e-5	SMART
ZnF_C2H2	326	348	2.1e-5	SMART
ZnF_C2H2	354	376	2.5e-6	SMART
ZnF_C2H2	382	404	7.3e-6	SMART
ZnF_C2H2	410	432	3.1e-6	SMART
ZnF_C2H2	438	460	2e-7	SMART
ZnF_C2H2	466	488	4.6e-6	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Gm14325

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02130:Gm14325	APN	2	177,476,445 (GRCm39)	unclassified	probably benign
IGL02731:Gm14325	APN	2	177,474,779 (GRCm39)	missense	probably damaging	1.00
IGL02988:Gm14325	APN	2	177,476,042 (GRCm39)	critical splice donor site	probably null
R4490:Gm14325	UTSW	2	177,474,776 (GRCm39)	missense	possibly damaging	0.95
R5274:Gm14325	UTSW	2	177,474,777 (GRCm39)	missense	possibly damaging	0.92
R5277:Gm14325	UTSW	2	177,474,777 (GRCm39)	missense	possibly damaging	0.92
R5295:Gm14325	UTSW	2	177,474,777 (GRCm39)	missense	possibly damaging	0.92
R5394:Gm14325	UTSW	2	177,474,777 (GRCm39)	missense	possibly damaging	0.92
R6147:Gm14325	UTSW	2	177,474,600 (GRCm39)	missense	probably damaging	1.00
R6855:Gm14325	UTSW	2	177,474,635 (GRCm39)	missense	probably damaging	1.00
R7198:Gm14325	UTSW	2	177,473,798 (GRCm39)	missense	probably benign	0.02
R7221:Gm14325	UTSW	2	177,476,403 (GRCm39)	missense	probably damaging	1.00
R8206:Gm14325	UTSW	2	177,474,767 (GRCm39)	missense	probably damaging	1.00
R8310:Gm14325	UTSW	2	177,473,592 (GRCm39)	missense	probably damaging	1.00
R8370:Gm14325	UTSW	2	177,474,385 (GRCm39)	missense	probably benign	0.03
R9281:Gm14325	UTSW	2	177,473,597 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACTGCTTTGTGAAAAGGCTTTAC -3'
(R):5'- TTGCTCTGTTCAATGAAACCAAAA -3'

Sequencing Primer
(F):5'- TGGAGTTCACCACTGCTTACAAAG -3'
(R):5'- GAAGTTGTTCTGCAGAGC -3'

Posted On

2016-08-04