Mutagenetix > Incidental Mutation

Incidental Mutation 'R5277:Gm14325'

403989

Institutional Source

Beutler Lab

Gene Symbol

Gm14325

Ensembl Gene

ENSMUSG00000095362

Gene Name

predicted gene 14325

Synonyms

MMRRC Submission

042864-MU

Accession Numbers

Essential gene?

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

Stock #

R5277 (G1)

Quality Score

146

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: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,884,660 (GRCm39)	T54A	probably damaging	Het
Ablim1	T	C	19: 57,143,693 (GRCm39)	R89G	probably damaging	Het
Bco1	T	A	8: 117,844,128 (GRCm39)		probably null	Het
Bhmt	A	T	13: 93,761,393 (GRCm39)	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,478,390 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcaf6	A	G	1: 165,251,915 (GRCm39)	S70P	probably benign	Het
Dclre1a	C	T	19: 56,533,164 (GRCm39)	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,905,201 (GRCm39)	P4021L	probably damaging	Het
Dusp10	A	G	1: 183,769,204 (GRCm39)	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,595,243 (GRCm39)	R374C	probably benign	Het
Fyb2	G	A	4: 104,872,876 (GRCm39)	D686N	probably damaging	Het
Glra3	G	A	8: 56,444,242 (GRCm39)	M67I	possibly damaging	Het
Gm6180	A	G	8: 42,700,177 (GRCm39)		noncoding transcript	Het
Grin2c	A	G	11: 115,144,639 (GRCm39)	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,112,186 (GRCm39)		noncoding transcript	Het
Mc3r	T	C	2: 172,091,707 (GRCm39)	F310L	probably damaging	Het
Myh4	A	G	11: 67,143,180 (GRCm39)	D1036G	probably damaging	Het
Myh6	A	G	14: 55,194,019 (GRCm39)	I790T	probably benign	Het
Myo15a	C	A	11: 60,367,940 (GRCm39)	Y233*	probably null	Het
Nckap5	A	T	1: 125,954,277 (GRCm39)	C758*	probably null	Het
Neurog3	T	A	10: 61,969,632 (GRCm39)	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,020,863 (GRCm39)	L450P	probably benign	Het
Or52d13	A	T	7: 103,110,148 (GRCm39)	L84H	probably damaging	Het
Otog	A	G	7: 45,896,045 (GRCm39)	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,874,207 (GRCm39)	T41K	probably damaging	Het
Prmt5	A	T	14: 54,747,399 (GRCm39)	D459E	probably benign	Het
Ric8b	G	A	10: 84,783,516 (GRCm39)	V125M	probably damaging	Het
Rptor	A	G	11: 119,713,782 (GRCm39)	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,246,498 (GRCm39)	E371D	probably benign	Het
Scaf11	A	T	15: 96,317,107 (GRCm39)	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,409,611 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,217,688 (GRCm39)	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,253,885 (GRCm39)	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,723,192 (GRCm39)		probably null	Het
Tmem63c	T	A	12: 87,104,531 (GRCm39)		probably null	Het
Tmem69	A	G	4: 116,410,458 (GRCm39)	F171L	probably benign	Het
Urod	A	T	4: 116,847,482 (GRCm39)		probably benign	Het
Vmn1r37	A	T	6: 66,708,460 (GRCm39)	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,914,393 (GRCm39)	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 85,815,500 (GRCm39)	S121R	probably benign	Het
Vwde	T	C	6: 13,186,995 (GRCm39)	T831A	probably benign	Het
Wdr70	C	T	15: 8,006,465 (GRCm39)	W362*	probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp7	T	C	15: 76,765,403 (GRCm39)	V32A	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
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
R5395: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'- GCTTTGTGAAAAGGCTTTACCACAT -3'
(R):5'- AGATTGCTCTGTTCAATGAAACCAAA -3'

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

Posted On

2016-07-22