Mutagenetix > Incidental Mutation

Incidental Mutation 'R6223:Qser1'

504121

Institutional Source

Beutler Lab

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

MMRRC Submission

044354-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R6223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104754795-104816760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104787648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 940 (S940P)

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: S850P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: S850P

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: S940P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,427,953	R8S	probably benign	Het
Abca8b	A	G	11: 109,977,846	V164A	probably benign	Het
Acadm	C	A	3: 153,938,549		probably null	Het
Ap3b2	G	A	7: 81,473,462	R435*	probably null	Het
Art2b	A	G	7: 101,579,951	F247S	possibly damaging	Het
C1rb	T	A	6: 124,574,580	D216E	probably benign	Het
Casz1	C	A	4: 148,933,383	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Cdc25a	C	A	9: 109,889,774	P409T	possibly damaging	Het
Cidea	A	C	18: 67,358,739	K23T	possibly damaging	Het
Clspn	T	A	4: 126,586,168	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,395,187	D385V	probably damaging	Het
Crat	C	T	2: 30,407,030	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,791,717	W265R	probably benign	Het
Dock8	A	T	19: 25,161,052	Y1247F	probably benign	Het
Eed	A	G	7: 89,956,287	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,015,110	F73L	probably benign	Het
Fbn1	C	T	2: 125,412,671	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,429,605	F684L	probably damaging	Het
Glrp1	G	A	1: 88,503,442	Q69*	probably null	Het
Gm29797	T	C	2: 181,659,057	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,676,625	R543K	probably benign	Het
Ifih1	T	C	2: 62,598,259	I891V	probably benign	Het
Ifnar2	C	T	16: 91,387,988	T89M	probably damaging	Het
Kat6a	C	A	8: 22,940,426	N1932K	unknown	Het
Mgat5	A	T	1: 127,382,979	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,871,702		probably null	Het
Myh3	G	T	11: 67,098,017	V1499L	probably benign	Het
Ncan	A	C	8: 70,109,954	D551E	probably benign	Het
Nol11	G	T	11: 107,171,616	T598K	possibly damaging	Het
Olfml3	G	A	3: 103,736,460	R202W	probably damaging	Het
Olfr1362	G	A	13: 21,611,366	T201I	probably benign	Het
Olfr1509	A	G	14: 52,450,679	R89G	probably benign	Het
Pcdh9	T	C	14: 93,015,733	K1131E	probably benign	Het
Pcolce	A	G	5: 137,605,299	M424T	probably damaging	Het
Pi16	C	A	17: 29,327,439	S397*	probably null	Het
Pi4ka	A	T	16: 17,357,571	Y464*	probably null	Het
Pik3c2b	T	A	1: 133,070,357	L324M	probably damaging	Het
Prdm2	T	C	4: 143,142,207	N179S	probably benign	Het
Prss56	C	T	1: 87,185,412	P183S	probably benign	Het
Prx	T	G	7: 27,516,836	M393R	probably damaging	Het
Qpctl	T	C	7: 19,143,209	D328G	probably damaging	Het
Rchy1	G	A	5: 91,957,967	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,823,948	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,379,026	V388A	probably benign	Het
Ssu2	G	T	6: 112,376,448	C238*	probably null	Het
Stub1	C	T	17: 25,832,813	G14D	probably damaging	Het
Tab1	T	A	15: 80,148,263	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,865,850	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525	R134G	probably damaging	Het
Tg	T	A	15: 66,707,922	N1525K	probably benign	Het
Tll2	G	A	19: 41,135,952	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,500,196	M1V	probably null	Het
Ttc7b	A	G	12: 100,387,109		probably null	Het
Ubb	A	G	11: 62,552,525	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,787,504	Y796*	probably null	Het
Vdac2	G	A	14: 21,845,178	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,483,302	V329E	probably benign	Het
Wdr60	T	C	12: 116,257,458	D11G	possibly damaging	Het
Zfp651	G	A	9: 121,763,787	R391Q	possibly damaging	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
R5010:Qser1	UTSW	2	104787831	missense	possibly damaging	0.67
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
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'- TCCATATGCGGTTGATCAAGAAC -3'
(R):5'- TCAGTGAAGCCAATCCACATG -3'

Sequencing Primer
(F):5'- CGGTTGATCAAGAACTGTTTCTGAC -3'
(R):5'- CCACATGACTCAAAGAATCAGTTTG -3'

Posted On

2018-02-28