Mutagenetix > Incidental Mutation

Incidental Mutation 'R1037:Qser1'

93844

Institutional Source

Beutler Lab

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

MMRRC Submission

039136-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R1037 (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 104760555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1722 (Y1722C)

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: Y1632C

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: Y1632C

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 damaging
Transcript: ENSMUST00000231375
AA Change: Y1722C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.1400

Coding Region Coverage

1x: 99.4%
3x: 98.1%
10x: 94.3%
20x: 85.9%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,709,512	S139G	probably benign	Het
Abca2	T	A	2: 25,438,228		probably benign	Het
Abcb1b	A	T	5: 8,825,657	N610I	probably benign	Het
Ahnak	T	C	19: 9,007,618	F2089L	probably benign	Het
Cacnb1	T	C	11: 98,005,017		probably benign	Het
Cep57	T	C	9: 13,818,979	I61V	possibly damaging	Het
Ckap5	T	C	2: 91,550,629	I110T	probably benign	Het
Clasp2	T	C	9: 113,896,634		probably benign	Het
Col11a1	A	C	3: 114,194,152	E265A	probably damaging	Het
Cst13	A	G	2: 148,830,331		probably benign	Het
Cyp24a1	G	A	2: 170,491,617	T272M	probably damaging	Het
Cyp4a14	A	C	4: 115,489,996	L415R	probably damaging	Het
Dbnl	T	C	11: 5,796,807	F179S	probably damaging	Het
Eepd1	T	C	9: 25,586,783	L388P	possibly damaging	Het
Exosc8	G	T	3: 54,732,738	A55E	probably damaging	Het
Fam72a	G	A	1: 131,533,819	V81I	probably damaging	Het
Fasn	C	T	11: 120,809,451	M2182I	probably benign	Het
Fras1	C	T	5: 96,714,463	P2234S	probably damaging	Het
Grn	C	A	11: 102,433,070	D33E	possibly damaging	Het
Gsap	A	G	5: 21,251,165		probably benign	Het
Hist1h2bn	T	A	13: 21,754,247	V42E	probably damaging	Het
Hook3	T	C	8: 26,072,350	Q229R	possibly damaging	Het
Itgb6	T	C	2: 60,650,068	E308G	probably damaging	Het
Kmo	C	T	1: 175,651,618	P240L	possibly damaging	Het
Lrrc4c	A	G	2: 97,629,985	M319V	probably benign	Het
Mia3	T	C	1: 183,357,354	I672M	probably benign	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mlc1	A	G	15: 88,965,461	L223P	probably damaging	Het
Mmp21	T	C	7: 133,674,453	K554E	probably benign	Het
Nup160	C	T	2: 90,693,902	T383I	probably damaging	Het
Olfr1166	A	G	2: 88,124,229	I252T	probably damaging	Het
Olfr1197	T	A	2: 88,729,032	D189V	probably damaging	Het
Olfr177	T	C	16: 58,872,970	Y60C	probably damaging	Het
Olfr201	C	T	16: 59,268,944	C241Y	probably damaging	Het
Olfr516	T	A	7: 108,845,984	T9S	probably benign	Het
Opcml	T	A	9: 28,903,299	D290E	probably damaging	Het
Palm3	C	A	8: 84,029,272	T471K	probably benign	Het
Prl2c5	T	A	13: 13,185,907	L50*	probably null	Het
Pzp	T	C	6: 128,519,426	N281S	probably benign	Het
Ryr3	A	G	2: 112,869,108	V879A	probably benign	Het
Sbno1	A	G	5: 124,393,912	S736P	possibly damaging	Het
Sept5	G	A	16: 18,623,094		probably benign	Het
Slc17a6	A	G	7: 51,649,248		probably benign	Het
Spag17	A	T	3: 100,103,117	T1976S	probably benign	Het
Swt1	A	T	1: 151,370,569		probably benign	Het
Tenm4	T	C	7: 96,797,481	W853R	probably damaging	Het
Thbs1	A	T	2: 118,123,051	Q983L	probably damaging	Het
Tmem191c	A	G	16: 17,276,483		probably benign	Het
Tmprss11g	A	T	5: 86,490,747	V294D	probably damaging	Het
Tor1aip2	A	G	1: 156,065,336	S463G	probably benign	Het
Trim36	A	G	18: 46,196,318		probably benign	Het
Ttc1	A	G	11: 43,730,499	V285A	possibly damaging	Het
Uckl1	C	T	2: 181,572,485	R303H	possibly damaging	Het
Vwa8	C	A	14: 79,086,654	C1132*	probably null	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
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
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'- cagcaccCCCCAAATAACAAATACTGA -3'
(R):5'- AGCAGGCAACACGTCTATTATTTTGCTA -3'

Sequencing Primer
(F):5'- caggacaggtagtggtaaacag -3'
(R):5'- GTTTGTTTTTCAAATGGCATGTACTC -3'

Posted On

2014-01-05