Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Gm14325'

405344

Institutional Source

Beutler Lab

Gene Symbol

Gm14325

Ensembl Gene

ENSMUSG00000095362

Gene Name

predicted gene 14325

Synonyms

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

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

Stock #

R5295 (G1)

Quality Score

133

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,438,109 (GRCm39)	E1095K	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Cbln3	T	C	14: 56,120,920 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,785,152 (GRCm39)	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,181,755 (GRCm39)	I148F	probably damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Ighv1-77	T	A	12: 115,825,528 (GRCm39)	S104C	probably damaging	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lrrc7	T	A	3: 157,876,376 (GRCm39)	K571N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Ly6f	A	G	15: 75,143,488 (GRCm39)	Q65R	probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf213	A	T	11: 119,331,642 (GRCm39)	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,495,986 (GRCm39)	D90N	probably damaging	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,771 (GRCm39)	L800P	probably damaging	Het
Znhit6	A	G	3: 145,306,248 (GRCm39)	D251G	probably benign	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
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'- CCACATTGGTTACATTCATACTGTT -3'
(R):5'- GCAAACACTGGGAGTTCTTCCT -3'

Sequencing Primer
(F):5'- TTCTCTCCTGCATGTGTTCGATTATG -3'
(R):5'- GAGCCACATAATCAGTACTGTTTCC -3'

Posted On

2016-07-22