Mutagenetix > Incidental Mutation

Incidental Mutation 'R6303:Qser1'

509138

Institutional Source

Beutler Lab

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

MMRRC Submission

044410-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R6303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104754795-104816760 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104762830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1704 (T1704I)

Ref Sequence

ENSEMBL: ENSMUSP00000155882 (fasta)

Gene Model

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

AlphaFold

A0A338P6K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000117237
AA Change: T1614I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: T1614I

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: T1704I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1229

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	A	10: 82,290,368	K2269N	possibly damaging	Het
5330417C22Rik	A	C	3: 108,461,256	C806W	probably damaging	Het
Apol9b	T	A	15: 77,735,304	V100E	probably damaging	Het
Bin3	A	G	14: 70,137,176	D218G	possibly damaging	Het
Cobll1	A	T	2: 65,098,033	M982K	possibly damaging	Het
Crybg2	T	C	4: 134,087,587	V1593A	possibly damaging	Het
Ctsh	A	G	9: 90,062,743	S76G	possibly damaging	Het
Dnajc10	T	G	2: 80,350,664	D767E	probably benign	Het
Etaa1	A	C	11: 17,947,505	M204R	probably damaging	Het
Fbxw16	A	T	9: 109,449,101	I3N	probably benign	Het
Fndc1	T	C	17: 7,758,485	E1394G	probably damaging	Het
Gm19410	T	C	8: 35,807,560	C1512R	possibly damaging	Het
Gramd4	A	G	15: 86,134,919	E596G	possibly damaging	Het
Hephl1	C	A	9: 15,090,152	V226F	possibly damaging	Het
Ilf3	G	A	9: 21,403,136		probably benign	Het
Kcnh3	T	C	15: 99,227,038	V123A	probably benign	Het
Kdm2b	A	G	5: 122,881,744	S260P	probably benign	Het
Lingo4	G	A	3: 94,403,206	G484R	probably damaging	Het
Lrrc10b	T	C	19: 10,456,978	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,608,609	N750I	probably benign	Het
Nlrp2	A	G	7: 5,337,761	L18P	probably damaging	Het
Nrp2	T	C	1: 62,745,406	L238P	probably damaging	Het
Nup155	T	C	15: 8,118,042	S262P	probably damaging	Het
Olfr639	G	A	7: 104,012,031	L224F	probably damaging	Het
Pappa	G	A	4: 65,204,654	G742D	probably damaging	Het
Pclo	A	T	5: 14,677,893		probably benign	Het
Phyhipl	A	G	10: 70,559,557		probably null	Het
Plcg1	A	G	2: 160,761,463	T1185A	possibly damaging	Het
Plscr5	A	T	9: 92,205,556	I193F	probably benign	Het
Polr1b	G	A	2: 129,115,762	R579H	probably damaging	Het
Polr2a	A	T	11: 69,746,913	W202R	probably damaging	Het
Ppp4r1	A	G	17: 65,824,729	K489E	probably benign	Het
Sik1	A	G	17: 31,846,296	V776A	probably damaging	Het
Soga1	T	C	2: 157,040,764	N456S	possibly damaging	Het
Spice1	A	G	16: 44,370,697	M305V	probably benign	Het
Taf4b	T	C	18: 14,807,355	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118	M186I	probably benign	Het
Usp49	C	A	17: 47,680,822	Q670K	probably damaging	Het
Usp54	T	C	14: 20,560,968	D1260G	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,766	S202T	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975	T111S	probably damaging	Het
Zfp985	A	G	4: 147,583,775	I367V	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
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
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'- ATAACTCGAGGCATGCAGAG -3'
(R):5'- CCATCCGCATGGGTATATGTG -3'

Sequencing Primer
(F):5'- GAAGACAACAGTGCCTGCTCTTG -3'
(R):5'- ACGTTTTGAATGGCTGAATTCAG -3'

Posted On

2018-04-02