Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02731:Gm14325'

305444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm14325

Ensembl Gene

ENSMUSG00000095362

Gene Name

predicted gene 14325

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02731

Quality Score

Status

Chromosome

Chromosomal Location

177473584-177482129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 177474779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 101 (K101R)

Ref Sequence

ENSEMBL: ENSMUSP00000104567 (fasta)

Gene Model

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

AlphaFold

A2AW67

Predicted Effect

probably damaging
Transcript: ENSMUST00000108939
AA Change: K101R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104567
Gene: ENSMUSG00000095362
AA Change: K101R

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: K100R

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140685
Gene: ENSMUSG00000095362
AA Change: K100R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	T	11: 61,784,302 (GRCm39)	D515E	possibly damaging	Het
Ankrd13b	A	T	11: 77,367,045 (GRCm39)	S9R	probably damaging	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep78	T	A	19: 15,933,670 (GRCm39)	H636L	probably benign	Het
Chd2	A	G	7: 73,143,204 (GRCm39)	V563A	probably damaging	Het
Cndp1	G	T	18: 84,650,083 (GRCm39)	D203E	probably damaging	Het
Col16a1	G	A	4: 129,947,323 (GRCm39)		probably benign	Het
Copa	T	C	1: 171,929,785 (GRCm39)	V284A	possibly damaging	Het
Dlec1	A	G	9: 118,976,188 (GRCm39)	T1656A	probably benign	Het
Dop1a	T	C	9: 86,369,434 (GRCm39)	I89T	probably damaging	Het
Eif2ak4	T	C	2: 118,219,295 (GRCm39)	S36P	probably benign	Het
Ep300	A	T	15: 81,532,615 (GRCm39)	I1618F	unknown	Het
Fan1	G	A	7: 64,022,741 (GRCm39)	L171F	possibly damaging	Het
Fancm	A	G	12: 65,135,079 (GRCm39)	T291A	probably benign	Het
Hmx3	A	T	7: 131,145,692 (GRCm39)		probably null	Het
Htt	G	T	5: 34,961,137 (GRCm39)	V255L	probably benign	Het
L3mbtl3	C	T	10: 26,220,074 (GRCm39)		probably null	Het
Lmbr1l	A	G	15: 98,815,777 (GRCm39)	L9P	probably damaging	Het
Lyzl6	A	T	11: 103,525,903 (GRCm39)	Y72*	probably null	Het
Mib1	A	G	18: 10,800,115 (GRCm39)	E818G	possibly damaging	Het
Neb	T	C	2: 52,050,715 (GRCm39)	T6405A	probably damaging	Het
Npas3	A	G	12: 54,114,578 (GRCm39)	D482G	probably benign	Het
Nuak2	C	A	1: 132,244,095 (GRCm39)	A43E	probably damaging	Het
Or10ag2	G	A	2: 87,249,051 (GRCm39)	V220I	probably benign	Het
Or4a70	T	C	2: 89,323,801 (GRCm39)	Y285C	probably damaging	Het
Or4f4b	A	T	2: 111,313,873 (GRCm39)	I33L	probably benign	Het
Or5an1	T	C	19: 12,261,206 (GRCm39)	S265P	probably damaging	Het
Pde11a	C	A	2: 75,821,583 (GRCm39)	A899S	probably benign	Het
Ppfibp2	A	T	7: 107,345,629 (GRCm39)	I884F	possibly damaging	Het
Pus7l	A	G	15: 94,421,345 (GRCm39)	V655A	probably benign	Het
Rad51ap2	A	G	12: 11,506,897 (GRCm39)	D273G	probably damaging	Het
Rc3h2	T	C	2: 37,272,823 (GRCm39)	D751G	probably benign	Het
Sdk1	C	T	5: 142,158,299 (GRCm39)	A1863V	probably damaging	Het
Spns3	T	C	11: 72,420,403 (GRCm39)	Y361C	probably damaging	Het
Srp72	T	A	5: 77,142,062 (GRCm39)	I372N	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tcf20	A	G	15: 82,737,438 (GRCm39)	S1338P	probably benign	Het
Tcte1	G	A	17: 45,850,812 (GRCm39)	V363I	probably benign	Het
Vmn1r42	T	C	6: 89,822,407 (GRCm39)	K54R	probably benign	Het
Vps13b	A	G	15: 35,917,274 (GRCm39)	N3706S	probably benign	Het
Vwde	T	C	6: 13,192,613 (GRCm39)	Y430C	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Zfp959	G	A	17: 56,202,956 (GRCm39)		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
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
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

Posted On

2015-04-16