Mutagenetix > Incidental Mutation

Incidental Mutation 'R9281:Gm14325'

703606

Institutional Source

Beutler Lab

Gene Symbol

Gm14325

Ensembl Gene

ENSMUSG00000095362

Gene Name

predicted gene 14325

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9281 (G1)

Quality Score

113.008

Status

Not validated

Chromosome

Chromosomal Location

177473584-177482129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 177473597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 495 (Y495F)

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: Y495F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104567
Gene: ENSMUSG00000095362
AA Change: Y495F

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 damaging
Transcript: ENSMUST00000188914
AA Change: Y494F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140685
Gene: ENSMUSG00000095362
AA Change: Y494F

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,274,184 (GRCm39)	I102M	possibly damaging	Het
2700049A03Rik	G	A	12: 71,205,687 (GRCm39)	V444I	possibly damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Ano1	A	T	7: 144,149,318 (GRCm39)	Y848N	probably damaging	Het
Arap2	C	T	5: 62,906,848 (GRCm39)	R57H	probably damaging	Het
Atp10b	C	T	11: 43,116,458 (GRCm39)	T935I	probably benign	Het
Bcl11b	A	G	12: 107,882,257 (GRCm39)	L686P	possibly damaging	Het
Bmp5	T	C	9: 75,683,856 (GRCm39)	V161A	probably benign	Het
C1qtnf3	A	G	15: 10,978,607 (GRCm39)	E196G	probably benign	Het
Cacng8	T	A	7: 3,460,608 (GRCm39)	F130L	probably damaging	Het
Cap1	A	G	4: 122,766,226 (GRCm39)	M4T	probably benign	Het
Ccdc57	T	C	11: 120,751,413 (GRCm39)	K886E	probably benign	Het
Cdhr2	A	C	13: 54,881,703 (GRCm39)	T1112P	possibly damaging	Het
Clcn4	A	T	7: 7,294,813 (GRCm39)	M316K	probably benign	Het
Col22a1	A	T	15: 71,732,920 (GRCm39)	D1099E	unknown	Het
Csmd3	A	C	15: 47,460,272 (GRCm39)	N2595K		Het
Ctdspl2	A	G	2: 121,841,063 (GRCm39)	H451R	probably benign	Het
Cybrd1	A	T	2: 70,968,735 (GRCm39)	T203S	probably benign	Het
Dhx29	A	G	13: 113,078,240 (GRCm39)	N312S	possibly damaging	Het
Dhx30	A	T	9: 109,929,983 (GRCm39)	S38T	probably benign	Het
Dync2i1	G	A	12: 116,211,677 (GRCm39)	R277*	probably null	Het
Ercc8	G	T	13: 108,320,364 (GRCm39)	A317S	probably benign	Het
Fndc3a	T	C	14: 72,799,097 (GRCm39)	T629A	probably benign	Het
Frmpd1	G	T	4: 45,284,127 (GRCm39)	A983S	probably benign	Het
Gm5773	A	T	3: 93,680,891 (GRCm39)	T188S	probably benign	Het
Gpsm1	C	A	2: 26,214,488 (GRCm39)	N243K	probably damaging	Het
Inpp4a	C	G	1: 37,410,850 (GRCm39)	H339Q	probably damaging	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Kdm4a	A	G	4: 117,995,728 (GRCm39)	V1003A	probably damaging	Het
Lrrc25	T	A	8: 71,073,246 (GRCm39)	M276K	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmdc2	G	A	1: 9,994,425 (GRCm39)	G406D	probably damaging	Het
Mfhas1	G	T	8: 36,057,951 (GRCm39)	A809S	probably benign	Het
Mier2	A	T	10: 79,378,294 (GRCm39)	D376E	probably benign	Het
Mllt3	A	C	4: 87,707,566 (GRCm39)	H464Q	probably benign	Het
Mtrex	A	T	13: 113,046,443 (GRCm39)	C302*	probably null	Het
Myo6	T	A	9: 80,162,164 (GRCm39)	Y300*	probably null	Het
Myzap	T	C	9: 71,493,482 (GRCm39)	D31G	unknown	Het
Nfatc1	T	C	18: 80,741,190 (GRCm39)	Y270C	probably damaging	Het
Nsd3	T	C	8: 26,152,961 (GRCm39)	S434P	probably benign	Het
Or13p3	A	G	4: 118,566,592 (GRCm39)		probably benign	Het
Or1e26	T	A	11: 73,480,133 (GRCm39)	M144L	probably benign	Het
Osbp2	T	A	11: 3,813,375 (GRCm39)	T165S	probably benign	Het
Plxna1	A	G	6: 89,300,313 (GRCm39)	V1590A	probably damaging	Het
Pramel7	A	G	2: 87,321,495 (GRCm39)	L180P	probably damaging	Het
Prkd1	C	T	12: 50,536,758 (GRCm39)	D109N	probably benign	Het
Ptger3	A	G	3: 157,273,090 (GRCm39)	M146V	probably benign	Het
Pts	A	G	9: 50,433,853 (GRCm39)	V96A	probably damaging	Het
Rab11fip5	T	C	6: 85,318,834 (GRCm39)	E685G	probably benign	Het
Rab27a	C	T	9: 72,992,278 (GRCm39)	T102I	probably damaging	Het
Reln	A	G	5: 22,153,545 (GRCm39)	L2253P	probably damaging	Het
Rock1	C	T	18: 10,080,479 (GRCm39)	A1022T	probably benign	Het
Rspry1	T	A	8: 95,363,259 (GRCm39)	N259K	probably damaging	Het
Sdha	A	T	13: 74,472,056 (GRCm39)	Y604*	probably null	Het
Slc12a6	A	G	2: 112,164,754 (GRCm39)	N151S	probably benign	Het
Slc26a5	T	A	5: 22,019,051 (GRCm39)	D596V	probably benign	Het
Snrpa	A	G	7: 26,891,051 (GRCm39)	V140A	probably benign	Het
Spta1	T	G	1: 174,047,444 (GRCm39)	V1696G	probably damaging	Het
St13	A	T	15: 81,261,927 (GRCm39)	D179E	probably damaging	Het
Stpg4	T	C	17: 87,702,671 (GRCm39)	D182G	probably benign	Het
Synm	A	T	7: 67,386,048 (GRCm39)	L538*	probably null	Het
Tigar	A	T	6: 127,068,157 (GRCm39)	L87H	probably damaging	Het
Tmem67	C	A	4: 12,079,962 (GRCm39)	V110F	possibly damaging	Het
Trav6n-5	T	A	14: 53,342,744 (GRCm39)	L94*	probably null	Het
Ttf1	A	G	2: 28,955,902 (GRCm39)	H422R	probably benign	Het
Ttn	A	G	2: 76,619,926 (GRCm39)	V15914A	probably damaging	Het
Vmn2r13	C	A	5: 109,303,953 (GRCm39)	C826F	probably damaging	Het
Wwc1	C	G	11: 35,780,211 (GRCm39)	G248A	probably benign	Het
Zfp120	G	A	2: 149,959,615 (GRCm39)	H258Y	probably damaging	Het
Zfp142	A	G	1: 74,607,731 (GRCm39)	Y1681H	probably damaging	Het
Zkscan3	A	G	13: 21,579,045 (GRCm39)	L150P	possibly damaging	Het
Zscan4-ps1	G	T	7: 10,799,589 (GRCm39)	F433L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGTCACTCCTTCCTGCAAAGAC -3'
(R):5'- GCTTTTATAAGAAGGAGAGTCCTCC -3'

Sequencing Primer
(F):5'- TCCTGCAAAGACTTTACCACATTGG -3'
(R):5'- GAGAGTCCTCCAAATACATAAGCG -3'

Posted On

2022-03-25