Mutagenetix > Incidental Mutation

Incidental Mutation 'R9726:Gm7145'

731018

Institutional Source

Beutler Lab

Gene Symbol

Gm7145

Ensembl Gene

ENSMUSG00000100617

Gene Name

predicted gene 7145

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R9726 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117965939-117986884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117985976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 196 (N196S)

Ref Sequence

ENSEMBL: ENSMUSP00000140916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000185381]

AlphaFold

A0A087WS64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185381
AA Change: N196S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140916
Gene: ENSMUSG00000100617
AA Change: N196S

Domain	Start	End	E-Value	Type
KRAB	8	68	4.4e-36	SMART
ZnF_C2H2	109	131	3.6e-6	SMART
ZnF_C2H2	137	159	3.4e-5	SMART
ZnF_C2H2	165	187	1.7e-6	SMART
ZnF_C2H2	193	215	1e-7	SMART
ZnF_C2H2	221	243	2e-5	SMART
ZnF_C2H2	249	271	2.1e-7	SMART
ZnF_C2H2	277	299	9.3e-5	SMART
ZnF_C2H2	305	327	3.4e-4	SMART
ZnF_C2H2	333	355	3.2e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,348,667	V122A	probably damaging	Het
4932415D10Rik	T	C	10: 82,282,771	S4802G	unknown	Het
Ago2	T	C	15: 73,127,070	Y226C	probably damaging	Het
Akap9	A	G	5: 4,003,757	K1574R	probably benign	Het
Apob	T	C	12: 8,006,926	Y1803H	probably damaging	Het
Bex6	A	T	16: 32,186,425	D17V	probably damaging	Het
Cd72	T	G	4: 43,452,641		probably null	Het
Cdcp2	C	A	4: 107,102,739	S117Y	probably damaging	Het
Cenpx	A	G	11: 120,712,502	L22P	unknown	Het
Cep135	A	G	5: 76,593,304	T76A	probably benign	Het
Cps1	A	T	1: 67,156,236	Q272L	probably benign	Het
Cul4a	C	T	8: 13,106,208	P55S	probably benign	Het
Cyp2f2	C	T	7: 27,121,986	T108I	probably damaging	Het
Dapk1	T	C	13: 60,751,134	V806A	probably benign	Het
Dgki	T	C	6: 37,299,923	H9R	unknown	Het
Dmxl2	A	T	9: 54,415,712	S1289T	probably benign	Het
Dock8	T	A	19: 25,177,010	V1691D	probably damaging	Het
Dock9	A	C	14: 121,597,737	L1280R	possibly damaging	Het
Dync2h1	G	A	9: 7,077,999	S2901F	possibly damaging	Het
Fam214b	T	C	4: 43,034,991	D302G	probably damaging	Het
Fkbp8	A	G	8: 70,534,879	K380E	probably damaging	Het
Ggta1	T	C	2: 35,402,410	Y295C	probably damaging	Het
Gm13762	T	A	2: 88,973,877	T5S	probably benign	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Ighv11-1	T	A	12: 113,982,003	I77L	probably benign	Het
Kcnmb3	A	G	3: 32,482,363	V72A	possibly damaging	Het
Kel	C	T	6: 41,702,037	G164D	probably damaging	Het
Krba1	C	A	6: 48,412,364	T606N	possibly damaging	Het
Lig3	T	C	11: 82,783,594	L82P	possibly damaging	Het
Limd1	T	C	9: 123,479,919	S228P	probably benign	Het
Mlf2	C	T	6: 124,934,658	R157W	probably benign	Het
Naxe	T	C	3: 88,058,412	S27G	probably benign	Het
Olfr800	A	G	10: 129,660,051	I82V	possibly damaging	Het
Oprm1	T	A	10: 6,979,694	C345S	probably benign	Het
Oscp1	C	A	4: 126,076,833	D138E	probably benign	Het
Panx3	T	A	9: 37,661,696	Y186F	probably damaging	Het
Pip5kl1	T	C	2: 32,583,379	Y343H	probably damaging	Het
Rasgef1b	T	C	5: 99,234,490	T214A	probably damaging	Het
Rims1	C	A	1: 22,630,412	W105L	probably null	Het
Serpina3f	C	T	12: 104,218,439	P281S	probably damaging	Het
Sgsm1	T	C	5: 113,310,552	K20R	probably benign	Het
Sigirr	A	G	7: 141,092,210	L274P	probably damaging	Het
Slc44a1	T	C	4: 53,491,410	V49A	probably benign	Het
Sstr1	G	A	12: 58,212,698	D36N	probably benign	Het
Stab2	T	A	10: 86,954,231	D557V	probably benign	Het
Topaz1	GCAGGGGGATGAGAAGGTA	G	9: 122,774,869		probably benign	Het
Topaz1	CAGGGGGATGAGAAGGTAAAG	CAG	9: 122,774,870		probably benign	Het
Trio	G	T	15: 27,912,666	Q101K	unknown	Het
Vmn1r185	T	A	7: 26,611,358	I241F	probably damaging	Het
Zfp229	T	A	17: 21,746,373	I528N	probably damaging	Het
Zfy1	A	G	Y: 725,476	F763S	possibly damaging	Het

Other mutations in Gm7145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Gm7145	APN	1	117967687	missense	probably benign	0.00
R6133:Gm7145	UTSW	1	117985888	missense	probably damaging	1.00
R6244:Gm7145	UTSW	1	117986140	missense	probably damaging	1.00
R6381:Gm7145	UTSW	1	117985939	nonsense	probably null
R6578:Gm7145	UTSW	1	117985795	missense	probably damaging	0.98
R6853:Gm7145	UTSW	1	117986144	missense	possibly damaging	0.95
R6913:Gm7145	UTSW	1	117985981	missense	probably damaging	1.00
R7159:Gm7145	UTSW	1	117985831	missense	probably benign	0.01
R7196:Gm7145	UTSW	1	117986061	missense	possibly damaging	0.81
R7313:Gm7145	UTSW	1	117986202	missense	probably damaging	1.00
R7343:Gm7145	UTSW	1	117986112	missense	probably damaging	1.00
R7369:Gm7145	UTSW	1	117986108	missense	probably benign	0.01
R8034:Gm7145	UTSW	1	117986164	missense	probably benign	0.03
R9316:Gm7145	UTSW	1	117968444	missense	probably benign	0.01
R9732:Gm7145	UTSW	1	117986109	missense	probably benign	0.03
Z1176:Gm7145	UTSW	1	117986351	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAGGAAGCTCCAGATACTCTTC -3'
(R):5'- GGATTCTCTGGTGAACTTTAAGATCTG -3'

Sequencing Primer
(F):5'- GGAAGCTCCAGATACTCTTCCTGAG -3'
(R):5'- CTGTGTGAAAGATTTTCCACATTC -3'

Posted On

2022-10-06