Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Qser1'

390413

Institutional Source

Beutler Lab

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

MMRRC Submission

042601-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104754795-104816760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104787831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 879 (N879D)

Ref Sequence

ENSEMBL: ENSMUSP00000155882 (fasta)

Gene Model

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

AlphaFold

A0A338P6K9

Predicted Effect

probably benign
Transcript: ENSMUST00000117237
AA Change: N789D

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: N789D

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

possibly damaging
Transcript: ENSMUST00000231375
AA Change: N879D

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,804	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,574,428		probably benign	Het
Actr5	T	A	2: 158,635,363	D411E	probably benign	Het
Ang5	A	G	14: 43,962,845	D122G	probably benign	Het
Atg9a	A	T	1: 75,186,060		probably null	Het
C530008M17Rik	G	C	5: 76,657,834		probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddx11	G	A	17: 66,147,722	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,760,321	V100I	probably benign	Het
Echdc2	T	C	4: 108,172,131	V111A	probably benign	Het
Egr1	A	G	18: 34,863,658	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,729,223	D229G	probably benign	Het
Ext1	T	A	15: 53,092,412	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,403,424	N31S	probably benign	Het
Gja8	T	C	3: 96,919,849	T166A	probably benign	Het
Gm21814	T	A	6: 149,583,618		noncoding transcript	Het
Gm21915	T	A	9: 40,670,648	H12Q	probably benign	Het
Gm597	A	G	1: 28,777,862	I363T	possibly damaging	Het
Hgsnat	G	A	8: 25,947,960	R527*	probably null	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Jchain	T	C	5: 88,522,505	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,312,962	C171R	probably benign	Het
Kcnk3	C	A	5: 30,622,805	R400S	possibly damaging	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,223,972	I375T	possibly damaging	Het
Mccc1	T	C	3: 35,979,017	N326S	probably benign	Het
Med13l	T	C	5: 118,593,550	V97A	possibly damaging	Het
Mertk	C	A	2: 128,784,000	T685K	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Myom2	G	A	8: 15,083,310	V401M	probably damaging	Het
Nme5	A	C	18: 34,578,685	M1R	probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Notch1	A	T	2: 26,476,114	D809E	possibly damaging	Het
Olfr292	T	C	7: 86,694,585	I43T	possibly damaging	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Prss23	T	A	7: 89,510,214	M216L	probably benign	Het
Psg18	A	T	7: 18,349,354	V171D	probably damaging	Het
Psg28	A	G	7: 18,427,891	V229A	probably damaging	Het
Rpap1	T	C	2: 119,770,041	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926	S411P	probably damaging	Het
Rxfp2	T	A	5: 150,067,360	W519R	probably damaging	Het
Scpep1	T	A	11: 88,941,349	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,379,649	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,671,444	M367K	probably benign	Het
Skint10	T	G	4: 112,727,672	I213L	probably benign	Het
Skint5	T	C	4: 113,546,537	T1163A	unknown	Het
Slamf9	A	T	1: 172,476,213	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,650,846		probably benign	Het
Smad6	T	A	9: 63,953,900	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,324	V26E	probably damaging	Het
Taf4b	A	G	18: 14,822,172	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,780,092	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,868,475	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,293,936		probably benign	Het
Timm50	A	T	7: 28,306,859	D272E	probably benign	Het
Ttn	T	G	2: 76,900,511		probably benign	Het
Vps13c	T	A	9: 67,916,379	F1362I	probably benign	Het
Vwf	T	C	6: 125,566,257	S154P	probably benign	Het
Zfp445	T	C	9: 122,852,345	R844G	probably benign	Het

Other mutations in Qser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Qser1	APN	2	104766056	missense	probably damaging	1.00
IGL00402:Qser1	APN	2	104786981	missense	probably benign	0.00
IGL00417:Qser1	APN	2	104786903	missense	probably damaging	1.00
IGL00756:Qser1	APN	2	104787671	missense	possibly damaging	0.55
IGL01304:Qser1	APN	2	104787631	missense	probably damaging	0.99
IGL01317:Qser1	APN	2	104786979	missense	probably damaging	0.99
IGL02186:Qser1	APN	2	104788261	missense	probably damaging	1.00
IGL03236:Qser1	APN	2	104786532	missense	probably benign	0.35
IGL03365:Qser1	APN	2	104786999	missense	probably damaging	1.00
Behoove	UTSW	2	104786977	nonsense	probably null
I1329:Qser1	UTSW	2	104786977	nonsense	probably null
R0270:Qser1	UTSW	2	104788961	missense	probably benign	0.03
R0395:Qser1	UTSW	2	104762881	missense	probably damaging	1.00
R0523:Qser1	UTSW	2	104789676	missense	probably damaging	1.00
R0727:Qser1	UTSW	2	104777311	splice site	probably benign
R1037:Qser1	UTSW	2	104760555	missense	probably damaging	0.99
R1222:Qser1	UTSW	2	104777431	missense	probably damaging	1.00
R1418:Qser1	UTSW	2	104777431	missense	probably damaging	1.00
R1891:Qser1	UTSW	2	104790099	missense	probably benign
R1974:Qser1	UTSW	2	104760541	missense	probably damaging	1.00
R2200:Qser1	UTSW	2	104789013	missense	probably damaging	1.00
R4179:Qser1	UTSW	2	104776384	missense	probably benign	0.19
R4379:Qser1	UTSW	2	104766059	splice site	probably null
R4418:Qser1	UTSW	2	104789421	missense	probably damaging	1.00
R4585:Qser1	UTSW	2	104786793	missense	probably benign	0.01
R4697:Qser1	UTSW	2	104787183	missense	probably benign	0.00
R4749:Qser1	UTSW	2	104787304	missense	probably benign	0.16
R4775:Qser1	UTSW	2	104789901	missense	probably damaging	1.00
R5070:Qser1	UTSW	2	104787282	missense	possibly damaging	0.49
R5268:Qser1	UTSW	2	104787431	missense	possibly damaging	0.47
R5384:Qser1	UTSW	2	104786642	missense	probably damaging	1.00
R5400:Qser1	UTSW	2	104789874	missense	probably damaging	1.00
R5502:Qser1	UTSW	2	104786574	missense	probably benign	0.00
R5615:Qser1	UTSW	2	104789694	missense	possibly damaging	0.78
R5664:Qser1	UTSW	2	104778196	missense	probably damaging	1.00
R5750:Qser1	UTSW	2	104788923	missense	probably damaging	1.00
R5793:Qser1	UTSW	2	104762860	missense	probably damaging	1.00
R6035:Qser1	UTSW	2	104787123	missense	probably damaging	0.99
R6035:Qser1	UTSW	2	104787123	missense	probably damaging	0.99
R6171:Qser1	UTSW	2	104789283	missense	probably damaging	1.00
R6223:Qser1	UTSW	2	104787648	missense	probably benign	0.01
R6254:Qser1	UTSW	2	104790090	missense	probably benign	0.07
R6303:Qser1	UTSW	2	104762830	missense	probably damaging	1.00
R6653:Qser1	UTSW	2	104780260	missense	possibly damaging	0.85
R6703:Qser1	UTSW	2	104777325	missense	possibly damaging	0.50
R6970:Qser1	UTSW	2	104788130	missense	probably benign	0.25
R7064:Qser1	UTSW	2	104787119	missense	probably damaging	1.00
R7478:Qser1	UTSW	2	104789514	missense	probably damaging	1.00
R7643:Qser1	UTSW	2	104786977	nonsense	probably null
R7769:Qser1	UTSW	2	104758576	missense	possibly damaging	0.65
R7836:Qser1	UTSW	2	104776234	missense	probably damaging	1.00
R7938:Qser1	UTSW	2	104788967	missense	probably damaging	1.00
R8209:Qser1	UTSW	2	104788725	missense	probably benign	0.02
R8218:Qser1	UTSW	2	104762923	missense	probably damaging	1.00
R8226:Qser1	UTSW	2	104788725	missense	probably benign	0.02
R8341:Qser1	UTSW	2	104789475	missense	probably damaging	0.99
R8362:Qser1	UTSW	2	104789901	missense	probably damaging	1.00
R8785:Qser1	UTSW	2	104787753	missense	probably damaging	0.99
R8983:Qser1	UTSW	2	104787357	missense	probably benign	0.02
R9051:Qser1	UTSW	2	104762947	missense	possibly damaging	0.52
R9165:Qser1	UTSW	2	104788470	missense	probably benign	0.41
R9289:Qser1	UTSW	2	104787248	missense	possibly damaging	0.48
R9342:Qser1	UTSW	2	104787819	missense	probably benign	0.00
R9380:Qser1	UTSW	2	104789346	nonsense	probably null
R9736:Qser1	UTSW	2	104789643	missense	probably benign	0.00
T0722:Qser1	UTSW	2	104786832	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ATGCCTGACATTTAATGACTGCTG -3'
(R):5'- TCCGCAACAGATAGTCCATC -3'

Sequencing Primer
(F):5'- CTGCTGATAATGAGACTTAGAATCAC -3'
(R):5'- ATCCTTTCCTACAGATGGATGG -3'

Posted On

2016-06-06