Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Qser1'

542158

Institutional Source

Beutler Lab

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

MMRRC Submission

045080-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.691) question?

Stock #

R6970 (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 104788130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 779 (V779A)

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: V689A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: V689A

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: V779A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314 (GRCm38)		probably null	Het
2410089E03Rik	T	C	15: 8,187,548 (GRCm38)	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315 (GRCm38)	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668 (GRCm38)	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916 (GRCm38)	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345 (GRCm38)	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600 (GRCm38)		probably benign	Het
Arfgef1	T	C	1: 10,153,678 (GRCm38)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679 (GRCm38)	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462 (GRCm38)	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439 (GRCm38)	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377 (GRCm38)	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585 (GRCm38)	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533 (GRCm38)	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958 (GRCm38)	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220 (GRCm38)	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977 (GRCm38)	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137 (GRCm38)	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601 (GRCm38)		probably benign	Het
Ddx20	A	T	3: 105,680,358 (GRCm38)	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862 (GRCm38)	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944 (GRCm38)	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422 (GRCm38)	E149G	probably damaging	Het
Fat4	A	T	3: 38,995,971 (GRCm38)	D3994V	probably damaging	Het
Fat4	A	G	3: 38,981,775 (GRCm38)	N3192S	probably damaging	Het
Fcgr1	C	A	3: 96,284,620 (GRCm38)		probably null	Het
Gm11639	A	G	11: 104,776,356 (GRCm38)	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912 (GRCm38)	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470 (GRCm38)	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490 (GRCm38)	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618 (GRCm38)		probably benign	Het
Gm906	A	T	13: 50,246,971 (GRCm38)	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985 (GRCm38)	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916 (GRCm38)	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647 (GRCm38)	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672 (GRCm38)	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526 (GRCm38)	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263 (GRCm38)	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094 (GRCm38)	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013 (GRCm38)	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131 (GRCm38)	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967 (GRCm38)	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798 (GRCm38)	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428 (GRCm38)	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656 (GRCm38)	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713 (GRCm38)	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687 (GRCm38)	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674 (GRCm38)	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116 (GRCm38)	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264 (GRCm38)	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818 (GRCm38)	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753 (GRCm38)	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546 (GRCm38)	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823 (GRCm38)	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612 (GRCm38)	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906 (GRCm38)		probably benign	Het
Rbm39	G	A	2: 156,167,584 (GRCm38)	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772 (GRCm38)	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227 (GRCm38)		probably benign	Het
Rsl1d1	T	A	16: 11,193,694 (GRCm38)	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144 (GRCm38)		probably benign	Het
Sec16a	G	A	2: 26,430,486 (GRCm38)	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972 (GRCm38)	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096 (GRCm38)	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831 (GRCm38)	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014 (GRCm38)	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626 (GRCm38)	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048 (GRCm38)	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439 (GRCm38)	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364 (GRCm38)	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428 (GRCm38)	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051 (GRCm38)	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989 (GRCm38)	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423 (GRCm38)		probably benign	Het
Tubgcp3	G	T	8: 12,637,000 (GRCm38)	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528 (GRCm38)	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015 (GRCm38)	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341 (GRCm38)	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174 (GRCm38)	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779 (GRCm38)	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348 (GRCm38)	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750 (GRCm38)	E14K	probably damaging	Het

Other mutations in Qser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Qser1	APN	2	104,766,056 (GRCm38)	missense	probably damaging	1.00
IGL00402:Qser1	APN	2	104,786,981 (GRCm38)	missense	probably benign	0.00
IGL00417:Qser1	APN	2	104,786,903 (GRCm38)	missense	probably damaging	1.00
IGL00756:Qser1	APN	2	104,787,671 (GRCm38)	missense	possibly damaging	0.55
IGL01304:Qser1	APN	2	104,787,631 (GRCm38)	missense	probably damaging	0.99
IGL01317:Qser1	APN	2	104,786,979 (GRCm38)	missense	probably damaging	0.99
IGL02186:Qser1	APN	2	104,788,261 (GRCm38)	missense	probably damaging	1.00
IGL03236:Qser1	APN	2	104,786,532 (GRCm38)	missense	probably benign	0.35
IGL03365:Qser1	APN	2	104,786,999 (GRCm38)	missense	probably damaging	1.00
Behoove	UTSW	2	104,786,977 (GRCm38)	nonsense	probably null
I1329:Qser1	UTSW	2	104,786,977 (GRCm38)	nonsense	probably null
R0270:Qser1	UTSW	2	104,788,961 (GRCm38)	missense	probably benign	0.03
R0395:Qser1	UTSW	2	104,762,881 (GRCm38)	missense	probably damaging	1.00
R0523:Qser1	UTSW	2	104,789,676 (GRCm38)	missense	probably damaging	1.00
R0727:Qser1	UTSW	2	104,777,311 (GRCm38)	splice site	probably benign
R1037:Qser1	UTSW	2	104,760,555 (GRCm38)	missense	probably damaging	0.99
R1222:Qser1	UTSW	2	104,777,431 (GRCm38)	missense	probably damaging	1.00
R1418:Qser1	UTSW	2	104,777,431 (GRCm38)	missense	probably damaging	1.00
R1891:Qser1	UTSW	2	104,790,099 (GRCm38)	missense	probably benign
R1974:Qser1	UTSW	2	104,760,541 (GRCm38)	missense	probably damaging	1.00
R2200:Qser1	UTSW	2	104,789,013 (GRCm38)	missense	probably damaging	1.00
R4179:Qser1	UTSW	2	104,776,384 (GRCm38)	missense	probably benign	0.19
R4379:Qser1	UTSW	2	104,766,059 (GRCm38)	splice site	probably null
R4418:Qser1	UTSW	2	104,789,421 (GRCm38)	missense	probably damaging	1.00
R4585:Qser1	UTSW	2	104,786,793 (GRCm38)	missense	probably benign	0.01
R4697:Qser1	UTSW	2	104,787,183 (GRCm38)	missense	probably benign	0.00
R4749:Qser1	UTSW	2	104,787,304 (GRCm38)	missense	probably benign	0.16
R4775:Qser1	UTSW	2	104,789,901 (GRCm38)	missense	probably damaging	1.00
R5010:Qser1	UTSW	2	104,787,831 (GRCm38)	missense	possibly damaging	0.67
R5070:Qser1	UTSW	2	104,787,282 (GRCm38)	missense	possibly damaging	0.49
R5268:Qser1	UTSW	2	104,787,431 (GRCm38)	missense	possibly damaging	0.47
R5384:Qser1	UTSW	2	104,786,642 (GRCm38)	missense	probably damaging	1.00
R5400:Qser1	UTSW	2	104,789,874 (GRCm38)	missense	probably damaging	1.00
R5502:Qser1	UTSW	2	104,786,574 (GRCm38)	missense	probably benign	0.00
R5615:Qser1	UTSW	2	104,789,694 (GRCm38)	missense	possibly damaging	0.78
R5664:Qser1	UTSW	2	104,778,196 (GRCm38)	missense	probably damaging	1.00
R5750:Qser1	UTSW	2	104,788,923 (GRCm38)	missense	probably damaging	1.00
R5793:Qser1	UTSW	2	104,762,860 (GRCm38)	missense	probably damaging	1.00
R6035:Qser1	UTSW	2	104,787,123 (GRCm38)	missense	probably damaging	0.99
R6035:Qser1	UTSW	2	104,787,123 (GRCm38)	missense	probably damaging	0.99
R6171:Qser1	UTSW	2	104,789,283 (GRCm38)	missense	probably damaging	1.00
R6223:Qser1	UTSW	2	104,787,648 (GRCm38)	missense	probably benign	0.01
R6254:Qser1	UTSW	2	104,790,090 (GRCm38)	missense	probably benign	0.07
R6303:Qser1	UTSW	2	104,762,830 (GRCm38)	missense	probably damaging	1.00
R6653:Qser1	UTSW	2	104,780,260 (GRCm38)	missense	possibly damaging	0.85
R6703:Qser1	UTSW	2	104,777,325 (GRCm38)	missense	possibly damaging	0.50
R7064:Qser1	UTSW	2	104,787,119 (GRCm38)	missense	probably damaging	1.00
R7478:Qser1	UTSW	2	104,789,514 (GRCm38)	missense	probably damaging	1.00
R7643:Qser1	UTSW	2	104,786,977 (GRCm38)	nonsense	probably null
R7769:Qser1	UTSW	2	104,758,576 (GRCm38)	missense	possibly damaging	0.65
R7836:Qser1	UTSW	2	104,776,234 (GRCm38)	missense	probably damaging	1.00
R7938:Qser1	UTSW	2	104,788,967 (GRCm38)	missense	probably damaging	1.00
R8209:Qser1	UTSW	2	104,788,725 (GRCm38)	missense	probably benign	0.02
R8218:Qser1	UTSW	2	104,762,923 (GRCm38)	missense	probably damaging	1.00
R8226:Qser1	UTSW	2	104,788,725 (GRCm38)	missense	probably benign	0.02
R8341:Qser1	UTSW	2	104,789,475 (GRCm38)	missense	probably damaging	0.99
R8362:Qser1	UTSW	2	104,789,901 (GRCm38)	missense	probably damaging	1.00
R8785:Qser1	UTSW	2	104,787,753 (GRCm38)	missense	probably damaging	0.99
R8983:Qser1	UTSW	2	104,787,357 (GRCm38)	missense	probably benign	0.02
R9051:Qser1	UTSW	2	104,762,947 (GRCm38)	missense	possibly damaging	0.52
R9165:Qser1	UTSW	2	104,788,470 (GRCm38)	missense	probably benign	0.41
R9289:Qser1	UTSW	2	104,787,248 (GRCm38)	missense	possibly damaging	0.48
R9342:Qser1	UTSW	2	104,787,819 (GRCm38)	missense	probably benign	0.00
R9380:Qser1	UTSW	2	104,789,346 (GRCm38)	nonsense	probably null
R9736:Qser1	UTSW	2	104,789,643 (GRCm38)	missense	probably benign	0.00
T0722:Qser1	UTSW	2	104,786,832 (GRCm38)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GTTCACCGTTGCTCTGGATG -3'
(R):5'- TGGCCAGTCCAATAATGCAG -3'

Sequencing Primer
(F):5'- CACCGTTGCTCTGGATGATATGAC -3'
(R):5'- TAGCCACTGATCTTAAGAAGGC -3'

Posted On

2018-11-28