Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00402:Qser1'

7101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

IGL00402

Quality Score

Status

Chromosome

Chromosomal Location

104585140-104647105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104617326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1072 (V1072A)

Ref Sequence

ENSEMBL: ENSMUSP00000114062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117237] [ENSMUST00000231375]

AlphaFold

A0A338P6K9

Predicted Effect

probably benign
Transcript: ENSMUST00000117237
AA Change: V1072A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: V1072A

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
low complexity region	196	209	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
low complexity region	403	427	N/A	INTRINSIC
low complexity region	532	550	N/A	INTRINSIC
low complexity region	697	713	N/A	INTRINSIC
low complexity region	1037	1050	N/A	INTRINSIC
low complexity region	1420	1449	N/A	INTRINSIC
Pfam:DUF4211	1470	1616	1e-26	PFAM
low complexity region	1631	1647	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231375
AA Change: V1162A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,514,165 (GRCm39)	L846H	probably benign	Het
Abca6	A	T	11: 110,075,535 (GRCm39)	L1319I	probably damaging	Het
Apob	C	T	12: 8,043,065 (GRCm39)		probably benign	Het
Atg16l2	A	C	7: 100,945,360 (GRCm39)	S268R	probably benign	Het
Atp1b3	T	C	9: 96,215,756 (GRCm39)		probably benign	Het
Atxn7	T	G	14: 14,096,324 (GRCm38)		probably benign	Het
Birc6	G	A	17: 74,880,558 (GRCm39)		probably benign	Het
C4b	G	A	17: 34,953,402 (GRCm39)	T1027I	probably damaging	Het
Caskin1	T	C	17: 24,722,863 (GRCm39)	I577T	probably damaging	Het
Cbx6	A	G	15: 79,713,130 (GRCm39)	V99A	possibly damaging	Het
Ccr9	A	C	9: 123,609,109 (GRCm39)	I252L	probably benign	Het
Cdh8	A	T	8: 100,006,322 (GRCm39)	D88E	probably damaging	Het
Cep135	T	C	5: 76,749,306 (GRCm39)	S258P	probably damaging	Het
Cep57l1	T	G	10: 41,597,547 (GRCm39)		probably benign	Het
Cip2a	T	A	16: 48,822,178 (GRCm39)	H234Q	probably damaging	Het
Col12a1	T	C	9: 79,588,819 (GRCm39)	T1099A	possibly damaging	Het
Col4a4	C	T	1: 82,469,362 (GRCm39)	G802D	unknown	Het
Ddx41	T	C	13: 55,679,212 (GRCm39)	T545A	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Fam13b	A	T	18: 34,587,771 (GRCm39)	V509D	probably damaging	Het
Ffar4	C	T	19: 38,095,837 (GRCm39)	P192L	probably benign	Het
Fn1	C	A	1: 71,680,322 (GRCm39)	C461F	probably damaging	Het
Gm14226	G	T	2: 154,867,078 (GRCm39)	S345I	probably damaging	Het
Gopc	T	C	10: 52,225,326 (GRCm39)	K308E	probably damaging	Het
Hapln2	A	T	3: 87,931,641 (GRCm39)	N28K	possibly damaging	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	T	C	12: 51,806,215 (GRCm39)	H1807R	probably benign	Het
Ifnl2	A	T	7: 28,208,290 (GRCm39)	V193D	possibly damaging	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,557 (GRCm39)	C282*	probably null	Het
Ltv1	C	T	10: 13,066,327 (GRCm39)	V100I	probably benign	Het
Mcf2l	T	C	8: 13,050,857 (GRCm39)	S308P	probably damaging	Het
Narf	G	A	11: 121,129,344 (GRCm39)		probably null	Het
Nmd3	T	A	3: 69,652,573 (GRCm39)	N386K	possibly damaging	Het
Noxo1	C	T	17: 24,917,910 (GRCm39)		probably benign	Het
Or1e30	T	A	11: 73,678,406 (GRCm39)	I214N	probably damaging	Het
Ppic	C	T	18: 53,542,366 (GRCm39)	G114D	probably damaging	Het
Ppp4r1	T	C	17: 66,123,014 (GRCm39)	S339P	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Rad54l2	T	A	9: 106,577,760 (GRCm39)	M1054L	probably benign	Het
Scara5	A	C	14: 65,975,864 (GRCm39)		probably benign	Het
Smtnl2	C	T	11: 72,294,085 (GRCm39)		probably benign	Het
Spink8	A	T	9: 109,648,287 (GRCm39)	I25F	probably benign	Het
Vit	G	A	17: 78,909,336 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,926,372 (GRCm39)	D3891G	possibly damaging	Het
Zfp207	T	A	11: 80,283,911 (GRCm39)	M277K	probably benign	Het
Zp2	T	C	7: 119,732,623 (GRCm39)	D641G	probably benign	Het

Other mutations in Qser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Qser1	APN	2	104,596,401 (GRCm39)	missense	probably damaging	1.00
IGL00417:Qser1	APN	2	104,617,248 (GRCm39)	missense	probably damaging	1.00
IGL00756:Qser1	APN	2	104,618,016 (GRCm39)	missense	possibly damaging	0.55
IGL01304:Qser1	APN	2	104,617,976 (GRCm39)	missense	probably damaging	0.99
IGL01317:Qser1	APN	2	104,617,324 (GRCm39)	missense	probably damaging	0.99
IGL02186:Qser1	APN	2	104,618,606 (GRCm39)	missense	probably damaging	1.00
IGL03236:Qser1	APN	2	104,616,877 (GRCm39)	missense	probably benign	0.35
IGL03365:Qser1	APN	2	104,617,344 (GRCm39)	missense	probably damaging	1.00
Behoove	UTSW	2	104,617,322 (GRCm39)	nonsense	probably null
I1329:Qser1	UTSW	2	104,617,322 (GRCm39)	nonsense	probably null
R0270:Qser1	UTSW	2	104,619,306 (GRCm39)	missense	probably benign	0.03
R0395:Qser1	UTSW	2	104,593,226 (GRCm39)	missense	probably damaging	1.00
R0523:Qser1	UTSW	2	104,620,021 (GRCm39)	missense	probably damaging	1.00
R0727:Qser1	UTSW	2	104,607,656 (GRCm39)	splice site	probably benign
R1037:Qser1	UTSW	2	104,590,900 (GRCm39)	missense	probably damaging	0.99
R1222:Qser1	UTSW	2	104,607,776 (GRCm39)	missense	probably damaging	1.00
R1418:Qser1	UTSW	2	104,607,776 (GRCm39)	missense	probably damaging	1.00
R1891:Qser1	UTSW	2	104,620,444 (GRCm39)	missense	probably benign
R1974:Qser1	UTSW	2	104,590,886 (GRCm39)	missense	probably damaging	1.00
R2200:Qser1	UTSW	2	104,619,358 (GRCm39)	missense	probably damaging	1.00
R4179:Qser1	UTSW	2	104,606,729 (GRCm39)	missense	probably benign	0.19
R4379:Qser1	UTSW	2	104,596,404 (GRCm39)	splice site	probably null
R4418:Qser1	UTSW	2	104,619,766 (GRCm39)	missense	probably damaging	1.00
R4585:Qser1	UTSW	2	104,617,138 (GRCm39)	missense	probably benign	0.01
R4697:Qser1	UTSW	2	104,617,528 (GRCm39)	missense	probably benign	0.00
R4749:Qser1	UTSW	2	104,617,649 (GRCm39)	missense	probably benign	0.16
R4775:Qser1	UTSW	2	104,620,246 (GRCm39)	missense	probably damaging	1.00
R5010:Qser1	UTSW	2	104,618,176 (GRCm39)	missense	possibly damaging	0.67
R5070:Qser1	UTSW	2	104,617,627 (GRCm39)	missense	possibly damaging	0.49
R5268:Qser1	UTSW	2	104,617,776 (GRCm39)	missense	possibly damaging	0.47
R5384:Qser1	UTSW	2	104,616,987 (GRCm39)	missense	probably damaging	1.00
R5400:Qser1	UTSW	2	104,620,219 (GRCm39)	missense	probably damaging	1.00
R5502:Qser1	UTSW	2	104,616,919 (GRCm39)	missense	probably benign	0.00
R5615:Qser1	UTSW	2	104,620,039 (GRCm39)	missense	possibly damaging	0.78
R5664:Qser1	UTSW	2	104,608,541 (GRCm39)	missense	probably damaging	1.00
R5750:Qser1	UTSW	2	104,619,268 (GRCm39)	missense	probably damaging	1.00
R5793:Qser1	UTSW	2	104,593,205 (GRCm39)	missense	probably damaging	1.00
R6035:Qser1	UTSW	2	104,617,468 (GRCm39)	missense	probably damaging	0.99
R6035:Qser1	UTSW	2	104,617,468 (GRCm39)	missense	probably damaging	0.99
R6171:Qser1	UTSW	2	104,619,628 (GRCm39)	missense	probably damaging	1.00
R6223:Qser1	UTSW	2	104,617,993 (GRCm39)	missense	probably benign	0.01
R6254:Qser1	UTSW	2	104,620,435 (GRCm39)	missense	probably benign	0.07
R6303:Qser1	UTSW	2	104,593,175 (GRCm39)	missense	probably damaging	1.00
R6653:Qser1	UTSW	2	104,610,605 (GRCm39)	missense	possibly damaging	0.85
R6703:Qser1	UTSW	2	104,607,670 (GRCm39)	missense	possibly damaging	0.50
R6970:Qser1	UTSW	2	104,618,475 (GRCm39)	missense	probably benign	0.25
R7064:Qser1	UTSW	2	104,617,464 (GRCm39)	missense	probably damaging	1.00
R7478:Qser1	UTSW	2	104,619,859 (GRCm39)	missense	probably damaging	1.00
R7643:Qser1	UTSW	2	104,617,322 (GRCm39)	nonsense	probably null
R7769:Qser1	UTSW	2	104,588,921 (GRCm39)	missense	possibly damaging	0.65
R7836:Qser1	UTSW	2	104,606,579 (GRCm39)	missense	probably damaging	1.00
R7938:Qser1	UTSW	2	104,619,312 (GRCm39)	missense	probably damaging	1.00
R8209:Qser1	UTSW	2	104,619,070 (GRCm39)	missense	probably benign	0.02
R8218:Qser1	UTSW	2	104,593,268 (GRCm39)	missense	probably damaging	1.00
R8226:Qser1	UTSW	2	104,619,070 (GRCm39)	missense	probably benign	0.02
R8341:Qser1	UTSW	2	104,619,820 (GRCm39)	missense	probably damaging	0.99
R8362:Qser1	UTSW	2	104,620,246 (GRCm39)	missense	probably damaging	1.00
R8785:Qser1	UTSW	2	104,618,098 (GRCm39)	missense	probably damaging	0.99
R8983:Qser1	UTSW	2	104,617,702 (GRCm39)	missense	probably benign	0.02
R9051:Qser1	UTSW	2	104,593,292 (GRCm39)	missense	possibly damaging	0.52
R9165:Qser1	UTSW	2	104,618,815 (GRCm39)	missense	probably benign	0.41
R9289:Qser1	UTSW	2	104,617,593 (GRCm39)	missense	possibly damaging	0.48
R9342:Qser1	UTSW	2	104,618,164 (GRCm39)	missense	probably benign	0.00
R9380:Qser1	UTSW	2	104,619,691 (GRCm39)	nonsense	probably null
R9736:Qser1	UTSW	2	104,619,988 (GRCm39)	missense	probably benign	0.00
T0722:Qser1	UTSW	2	104,617,177 (GRCm39)	missense	possibly damaging	0.49

Posted On

2012-04-20