Mutagenetix > Incidental Mutation

Incidental Mutation 'R8370:Gm14325'

646331

Institutional Source

Beutler Lab

Gene Symbol

Gm14325

Ensembl Gene

ENSMUSG00000095362

Gene Name

predicted gene 14325

Synonyms

MMRRC Submission

067809-MU

Accession Numbers

Essential gene?

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

Stock #

R8370 (G1)

Quality Score

96.0077

Status

Not validated

Chromosome

Chromosomal Location

177473584-177482129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 177474385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 232 (I232M)

Ref Sequence

ENSEMBL: ENSMUSP00000104567 (fasta)

Gene Model

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

AlphaFold

A2AW67

Predicted Effect

probably benign
Transcript: ENSMUST00000108939
AA Change: I232M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104567
Gene: ENSMUSG00000095362
AA Change: I232M

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

probably benign
Transcript: ENSMUST00000188914
AA Change: I231M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140685
Gene: ENSMUSG00000095362
AA Change: I231M

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,696,881 (GRCm39)	V92A	possibly damaging	Het
Armc2	T	A	10: 41,799,833 (GRCm39)	N675I	possibly damaging	Het
Cav1	A	G	6: 17,339,293 (GRCm39)	H126R	possibly damaging	Het
Ccdc202	T	C	14: 96,119,930 (GRCm39)	L229P	probably damaging	Het
Clca4b	A	G	3: 144,631,824 (GRCm39)	F227S	probably damaging	Het
Clec4a4	G	A	6: 122,968,758 (GRCm39)	G41D	probably damaging	Het
Commd1	A	T	11: 22,932,104 (GRCm39)	L51Q	probably damaging	Het
Dhx57	A	T	17: 80,553,192 (GRCm39)	V1245D	probably damaging	Het
Ephb2	A	G	4: 136,383,302 (GRCm39)	I925T	possibly damaging	Het
Eprs1	T	A	1: 185,131,454 (GRCm39)	I700K	probably damaging	Het
Fry	C	A	5: 150,319,284 (GRCm39)	T983K	probably damaging	Het
Golgb1	A	G	16: 36,732,679 (GRCm39)	H683R	probably benign	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif9	C	T	9: 110,317,681 (GRCm39)	R113C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Lama5	T	C	2: 179,843,280 (GRCm39)	E489G	possibly damaging	Het
Lhb	A	G	7: 45,071,066 (GRCm39)	D97G	probably damaging	Het
Lrp1b	T	C	2: 40,888,117 (GRCm39)	D2381G		Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mmp17	A	G	5: 129,682,642 (GRCm39)	D427G	probably damaging	Het
Mrps18b	T	C	17: 36,223,254 (GRCm39)	I131V	probably benign	Het
Nav1	T	A	1: 135,398,882 (GRCm39)	K567*	probably null	Het
Ncam1	T	A	9: 49,468,431 (GRCm39)	R343*	probably null	Het
Nfrkb	T	A	9: 31,316,875 (GRCm39)	N591K	probably damaging	Het
Numb	A	T	12: 83,854,974 (GRCm39)	C117*	probably null	Het
Or5b123	T	A	19: 13,596,661 (GRCm39)	I2N	probably damaging	Het
Or6ae1	A	T	7: 139,742,681 (GRCm39)	Y61N	probably damaging	Het
Pfpl	A	T	19: 12,407,275 (GRCm39)	N509Y	probably damaging	Het
Prss58	C	A	6: 40,872,358 (GRCm39)	G222C	probably damaging	Het
Ptx4	C	A	17: 25,342,314 (GRCm39)	P263Q	possibly damaging	Het
Ribc2	T	G	15: 85,027,489 (GRCm39)	H323Q	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Smchd1	G	A	17: 71,701,908 (GRCm39)	T1028M	probably benign	Het
Spata31d1e	T	C	13: 59,891,766 (GRCm39)	D18G	probably benign	Het
Srebf1	T	C	11: 60,093,022 (GRCm39)	I806V	probably benign	Het
Trim14	A	T	4: 46,523,711 (GRCm39)	L109Q	probably damaging	Het
Wdfy4	A	T	14: 32,815,208 (GRCm39)	H1602Q		Het
Zbtb48	A	G	4: 152,105,744 (GRCm39)		probably null	Het
Zranb3	T	C	1: 127,895,670 (GRCm39)	E726G	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
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
R9281:Gm14325	UTSW	2	177,473,597 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCATGTATGTGGAGATGACTGC -3'
(R):5'- AGCCTTTGCATATGAGAGTGGTA -3'

Sequencing Primer
(F):5'- GCTATGTGCAAAGGCTTTACCAC -3'
(R):5'- AGCCTTTGCAAGAAGCTGTC -3'

Posted On

2020-09-02