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?

Possibly non essential (E-score: 0.284) question?

Stock #

R9726 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117893669-117914614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117913706 bp (GRCm39)

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: 72,325,650 (GRCm39)	V122A	probably damaging	Het
Ago2	T	C	15: 72,998,919 (GRCm39)	Y226C	probably damaging	Het
Akap9	A	G	5: 4,053,757 (GRCm39)	K1574R	probably benign	Het
Apob	T	C	12: 8,056,926 (GRCm39)	Y1803H	probably damaging	Het
Atosb	T	C	4: 43,034,991 (GRCm39)	D302G	probably damaging	Het
Bex6	A	T	16: 32,005,243 (GRCm39)	D17V	probably damaging	Het
Cd72	T	G	4: 43,452,641 (GRCm39)		probably null	Het
Cdcp2	C	A	4: 106,959,936 (GRCm39)	S117Y	probably damaging	Het
Cenpx	A	G	11: 120,603,328 (GRCm39)	L22P	unknown	Het
Cep135	A	G	5: 76,741,151 (GRCm39)	T76A	probably benign	Het
Cps1	A	T	1: 67,195,395 (GRCm39)	Q272L	probably benign	Het
Cul4a	C	T	8: 13,156,208 (GRCm39)	P55S	probably benign	Het
Cyp2f2	C	T	7: 26,821,411 (GRCm39)	T108I	probably damaging	Het
Dapk1	T	C	13: 60,898,948 (GRCm39)	V806A	probably benign	Het
Dgki	T	C	6: 37,276,858 (GRCm39)	H9R	unknown	Het
Dmxl2	A	T	9: 54,322,996 (GRCm39)	S1289T	probably benign	Het
Dock8	T	A	19: 25,154,374 (GRCm39)	V1691D	probably damaging	Het
Dock9	A	C	14: 121,835,149 (GRCm39)	L1280R	possibly damaging	Het
Dync2h1	G	A	9: 7,077,999 (GRCm39)	S2901F	possibly damaging	Het
Fkbp8	A	G	8: 70,987,529 (GRCm39)	K380E	probably damaging	Het
Ggta1	T	C	2: 35,292,422 (GRCm39)	Y295C	probably damaging	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Ighv11-1	T	A	12: 113,945,623 (GRCm39)	I77L	probably benign	Het
Kcnmb3	A	G	3: 32,536,512 (GRCm39)	V72A	possibly damaging	Het
Kel	C	T	6: 41,678,971 (GRCm39)	G164D	probably damaging	Het
Krba1	C	A	6: 48,389,298 (GRCm39)	T606N	possibly damaging	Het
Lig3	T	C	11: 82,674,420 (GRCm39)	L82P	possibly damaging	Het
Limd1	T	C	9: 123,308,984 (GRCm39)	S228P	probably benign	Het
Mlf2	C	T	6: 124,911,621 (GRCm39)	R157W	probably benign	Het
Naxe	T	C	3: 87,965,719 (GRCm39)	S27G	probably benign	Het
Oprm1	T	A	10: 6,929,694 (GRCm39)	C345S	probably benign	Het
Or4c108	T	A	2: 88,804,221 (GRCm39)	T5S	probably benign	Het
Or6c210	A	G	10: 129,495,920 (GRCm39)	I82V	possibly damaging	Het
Oscp1	C	A	4: 125,970,626 (GRCm39)	D138E	probably benign	Het
Panx3	T	A	9: 37,572,992 (GRCm39)	Y186F	probably damaging	Het
Pip5kl1	T	C	2: 32,473,391 (GRCm39)	Y343H	probably damaging	Het
Rasgef1b	T	C	5: 99,382,349 (GRCm39)	T214A	probably damaging	Het
Rims1	C	A	1: 22,669,493 (GRCm39)	W105L	probably null	Het
Serpina3f	C	T	12: 104,184,698 (GRCm39)	P281S	probably damaging	Het
Sgsm1	T	C	5: 113,458,418 (GRCm39)	K20R	probably benign	Het
Sigirr	A	G	7: 140,672,123 (GRCm39)	L274P	probably damaging	Het
Slc44a1	T	C	4: 53,491,410 (GRCm39)	V49A	probably benign	Het
Spata31h1	T	C	10: 82,118,605 (GRCm39)	S4802G	unknown	Het
Sstr1	G	A	12: 58,259,484 (GRCm39)	D36N	probably benign	Het
Stab2	T	A	10: 86,790,095 (GRCm39)	D557V	probably benign	Het
Topaz1	GCAGGGGGATGAGAAGGTA	G	9: 122,603,934 (GRCm39)		probably benign	Het
Topaz1	CAGGGGGATGAGAAGGTAAAG	CAG	9: 122,603,935 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,912,752 (GRCm39)	Q101K	unknown	Het
Vmn1r185	T	A	7: 26,310,783 (GRCm39)	I241F	probably damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfy1	A	G	Y: 725,476 (GRCm39)	F763S	possibly damaging	Het

Other mutations in Gm7145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Gm7145	APN	1	117,895,417 (GRCm39)	missense	probably benign	0.00
R6133:Gm7145	UTSW	1	117,913,618 (GRCm39)	missense	probably damaging	1.00
R6244:Gm7145	UTSW	1	117,913,870 (GRCm39)	missense	probably damaging	1.00
R6381:Gm7145	UTSW	1	117,913,669 (GRCm39)	nonsense	probably null
R6578:Gm7145	UTSW	1	117,913,525 (GRCm39)	missense	probably damaging	0.98
R6853:Gm7145	UTSW	1	117,913,874 (GRCm39)	missense	possibly damaging	0.95
R6913:Gm7145	UTSW	1	117,913,711 (GRCm39)	missense	probably damaging	1.00
R7159:Gm7145	UTSW	1	117,913,561 (GRCm39)	missense	probably benign	0.01
R7196:Gm7145	UTSW	1	117,913,791 (GRCm39)	missense	possibly damaging	0.81
R7313:Gm7145	UTSW	1	117,913,932 (GRCm39)	missense	probably damaging	1.00
R7343:Gm7145	UTSW	1	117,913,842 (GRCm39)	missense	probably damaging	1.00
R7369:Gm7145	UTSW	1	117,913,838 (GRCm39)	missense	probably benign	0.01
R8034:Gm7145	UTSW	1	117,913,894 (GRCm39)	missense	probably benign	0.03
R9316:Gm7145	UTSW	1	117,896,174 (GRCm39)	missense	probably benign	0.01
R9732:Gm7145	UTSW	1	117,913,839 (GRCm39)	missense	probably benign	0.03
Z1176:Gm7145	UTSW	1	117,914,081 (GRCm39)	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