Mutagenetix > Incidental Mutations

Incidental Mutation 'R3623:Gm7964'

268725

Institutional Source

Beutler Lab

Gene Symbol

Gm7964

Ensembl Gene

ENSMUSG00000063902

Gene Name

predicted gene 7964

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83755904-83757356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83756421 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 149 (N149S)

Gene Model

predicted gene model for transcript(s):

Predicted Effect

probably benign
Transcript: ENSMUST00000042280
AA Change: N149S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000088990
Gene: ENSMUSG00000063902
AA Change: N149S

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.62e-11	SMART
low complexity region	238	253	N/A	INTRINSIC
low complexity region	260	276	N/A	INTRINSIC
low complexity region	282	290	N/A	INTRINSIC
low complexity region	298	310	N/A	INTRINSIC
low complexity region	340	356	N/A	INTRINSIC
KH	361	431	7.45e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000051522

SMART Domains

Protein: ENSMUSP00000095927
Gene: ENSMUSG00000063902

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.62e-11	SMART
low complexity region	262	277	N/A	INTRINSIC
low complexity region	284	300	N/A	INTRINSIC
low complexity region	306	314	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
low complexity region	364	380	N/A	INTRINSIC
KH	385	455	7.45e-16	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Bscl2	T	A	19: 8,841,150	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Camk2g	G	A	14: 20,755,707		probably benign	Het
Cd109	A	T	9: 78,667,357	D541V	probably damaging	Het
Cep135	G	A	5: 76,624,739	G657D	probably benign	Het
Coch	A	G	12: 51,602,826	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,127,536	E141G	probably benign	Het
Ddias	T	C	7: 92,859,592	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877	Q216R	probably benign	Het
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Ephx1	A	G	1: 180,989,933	I391T	probably benign	Het
Fam208b	T	C	13: 3,595,556	T98A	probably benign	Het
Fcgbp	A	G	7: 28,101,276	Y1249C	probably damaging	Het
Gm38100	T	C	1: 175,920,631	C88R	possibly damaging	Het
Gm5592	T	C	7: 41,157,628		probably benign	Het
Greb1l	T	A	18: 10,542,380	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,190,065	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Irs2	C	T	8: 11,007,643	G263D	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Kmt2a	A	G	9: 44,848,966	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,320	N108K	probably damaging	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,206,697	I130F	probably damaging	Het
Mlh3	C	T	12: 85,268,395	C339Y	probably damaging	Het
Mog	T	C	17: 37,012,446	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,784,198	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,165,266	H324R	probably damaging	Het
Myh7	T	C	14: 54,973,381	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,223	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,844,399	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,265,907		probably benign	Het
Nsd3	A	G	8: 25,662,819	T392A	probably damaging	Het
Olfr305	A	G	7: 86,364,100	F79S	probably benign	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499	S200T	probably benign	Het
Pcnt	T	A	10: 76,433,750	E228V	probably benign	Het
Phka2	T	A	X: 160,544,295	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,526,869	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,283		noncoding transcript	Het
Rspry1	A	G	8: 94,649,777	D309G	probably damaging	Het
Scap	A	G	9: 110,380,203	Y648C	probably damaging	Het
Sgcz	T	C	8: 37,953,047	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,538,274	V433D	probably damaging	Het
Smad9	C	T	3: 54,789,284	R257W	probably damaging	Het
Srcap	T	C	7: 127,542,147	S1639P	probably damaging	Het
Strn3	T	C	12: 51,661,216	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,868,470	M155L	probably benign	Het
Thbd	A	G	2: 148,406,973	V325A	probably damaging	Het
Trpd52l3	T	A	19: 30,003,933	C29*	probably null	Het
Trpm1	A	G	7: 64,244,853	Y951C	probably damaging	Het
Ube3a	T	A	7: 59,272,112	N77K	probably damaging	Het
Upp2	G	A	2: 58,790,116	R300Q	possibly damaging	Het
Usp35	T	C	7: 97,312,620	H533R	probably damaging	Het
Veph1	C	T	3: 66,215,437	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907		probably null	Het
Vps37c	T	A	19: 10,706,205		probably null	Het
Zap70	C	T	1: 36,779,135	T301I	probably benign	Het
Zfp341	A	G	2: 154,624,881	K57E	probably damaging	Het
Zfp60	T	A	7: 27,749,328	F474I	probably benign	Het
Zfp786	T	C	6: 47,821,423	N194D	probably benign	Het

Other mutations in Gm7964

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01665:Gm7964	APN	7	83757133	exon	noncoding transcript
IGL01691:Gm7964	APN	7	83756136	exon	noncoding transcript
IGL02232:Gm7964	APN	7	83756307	exon	noncoding transcript
IGL02525:Gm7964	APN	7	83756042	exon	noncoding transcript
R0512:Gm7964	UTSW	7	83755950	exon	noncoding transcript
R0543:Gm7964	UTSW	7	83756394	exon	noncoding transcript
R0723:Gm7964	UTSW	7	83756166	exon	noncoding transcript
R1977:Gm7964	UTSW	7	83757352	missense	possibly damaging	0.56
R2397:Gm7964	UTSW	7	83757113	exon	noncoding transcript
R3769:Gm7964	UTSW	7	83756130	missense	probably damaging	0.98
R4222:Gm7964	UTSW	7	83756822	missense	probably damaging	1.00
R4224:Gm7964	UTSW	7	83756822	missense	probably damaging	1.00
R4796:Gm7964	UTSW	7	83755901	unclassified	probably null
R4869:Gm7964	UTSW	7	83756142	missense	possibly damaging	0.51
R5086:Gm7964	UTSW	7	83757352	missense	possibly damaging	0.56
R5944:Gm7964	UTSW	7	83756535	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATCCCTACCTTGGAAGAGGG -3'
(R):5'- CGGCGGTCATCAAACATCATTC -3'

Sequencing Primer
(F):5'- TACCTTGGAAGAGGGCCTGC -3'
(R):5'- GGTCTCATCATAAAAGTTGGGATCG -3'

Posted On

2015-02-19