Mutagenetix > Incidental Mutation

Incidental Mutation 'R5793:Qser1'

447062

Institutional Source

Beutler Lab

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

MMRRC Submission

043208-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R5793 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104585140-104647105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104593205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1604 (Y1604C)

Ref Sequence

ENSEMBL: ENSMUSP00000114062 (fasta)

Gene Model

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

AlphaFold

A0A338P6K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000117237
AA Change: Y1604C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: Y1604C

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: Y1694C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12	C	A	11: 70,133,879 (GRCm39)	R522L	probably benign	Het
Arfgef1	A	T	1: 10,279,753 (GRCm39)	D271E	probably benign	Het
Arg1	C	T	10: 24,796,540 (GRCm39)	V96M	probably benign	Het
Axin1	T	C	17: 26,362,282 (GRCm39)	S209P	probably damaging	Het
B4galnt3	A	G	6: 120,185,865 (GRCm39)		probably null	Het
Cdh23	T	A	10: 60,141,907 (GRCm39)	D3058V	probably damaging	Het
Chd9	A	G	8: 91,728,384 (GRCm39)	T794A	probably damaging	Het
Ckap5	C	T	2: 91,450,180 (GRCm39)	T1891I	possibly damaging	Het
Cspg4b	G	T	13: 113,457,556 (GRCm39)	V1201L	possibly damaging	Het
Dzank1	T	C	2: 144,348,144 (GRCm39)	I207M	probably benign	Het
Fkbp9	G	A	6: 56,850,498 (GRCm39)		probably null	Het
Gm4781	T	A	10: 100,232,529 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtpbp6	G	A	5: 110,255,094 (GRCm39)	L33F	probably benign	Het
Hsd11b1	A	C	1: 192,924,492 (GRCm39)	F27V	probably damaging	Het
Ift172	A	T	5: 31,434,292 (GRCm39)	I482N	possibly damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Ly6g2	T	C	15: 75,093,493 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,653,077 (GRCm39)	Q1420R	probably benign	Het
Ncam2	G	A	16: 81,372,991 (GRCm39)	V569I	possibly damaging	Het
Nsd1	T	C	13: 55,395,819 (GRCm39)	V1140A	probably benign	Het
Ogdhl	T	A	14: 32,054,730 (GRCm39)	L226Q	probably damaging	Het
Or51a24	T	C	7: 103,734,237 (GRCm39)	T17A	probably benign	Het
Orc2	T	C	1: 58,536,547 (GRCm39)	M1V	probably null	Het
Padi2	T	C	4: 140,660,501 (GRCm39)	L327P	probably benign	Het
Palb2	T	C	7: 121,726,860 (GRCm39)	N337D	probably benign	Het
Pard3b	A	T	1: 61,807,132 (GRCm39)	H49L	probably damaging	Het
Pigz	T	C	16: 31,764,285 (GRCm39)	S448P	probably benign	Het
Ppfia4	A	G	1: 134,239,844 (GRCm39)	V911A	probably damaging	Het
Prr5	T	A	15: 84,656,223 (GRCm39)	M408K	probably benign	Het
Rpgrip1l	A	G	8: 91,987,400 (GRCm39)	S886P	probably benign	Het
Sdk2	T	C	11: 113,759,778 (GRCm39)	I408V	possibly damaging	Het
Sema7a	A	T	9: 57,867,540 (GRCm39)	R431W	probably damaging	Het
Slc22a30	T	A	19: 8,314,183 (GRCm39)	Y501F	possibly damaging	Het
Slitrk5	T	A	14: 111,917,345 (GRCm39)	V323D	probably damaging	Het
Snap47	C	T	11: 59,329,018 (GRCm39)	E95K	probably damaging	Het
Tbc1d9	A	T	8: 83,998,069 (GRCm39)	I1209F	probably damaging	Het
Tek	T	A	4: 94,708,333 (GRCm39)	M297K	probably benign	Het
Tmem132e	T	A	11: 82,335,684 (GRCm39)	I922N	probably damaging	Het
Tmx2	T	C	2: 84,506,501 (GRCm39)	R64G	probably damaging	Het
Trim68	A	T	7: 102,333,560 (GRCm39)	S41T	possibly damaging	Het
Tsga10	A	T	1: 37,874,540 (GRCm39)	M115K	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r84	C	T	10: 130,221,754 (GRCm39)	C822Y	probably damaging	Het
Wdr72	C	T	9: 74,117,625 (GRCm39)	A779V	probably benign	Het
Zfp580	A	T	7: 5,055,891 (GRCm39)		probably benign	Het
Zfp772	G	A	7: 7,207,283 (GRCm39)	T136I	probably benign	Het

Other mutations in Qser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Qser1	APN	2	104,596,401 (GRCm39)	missense	probably damaging	1.00
IGL00402:Qser1	APN	2	104,617,326 (GRCm39)	missense	probably benign	0.00
IGL00417:Qser1	APN	2	104,617,248 (GRCm39)	missense	probably damaging	1.00
IGL00756:Qser1	APN	2	104,618,016 (GRCm39)	missense	possibly damaging	0.55
IGL01304:Qser1	APN	2	104,617,976 (GRCm39)	missense	probably damaging	0.99
IGL01317:Qser1	APN	2	104,617,324 (GRCm39)	missense	probably damaging	0.99
IGL02186:Qser1	APN	2	104,618,606 (GRCm39)	missense	probably damaging	1.00
IGL03236:Qser1	APN	2	104,616,877 (GRCm39)	missense	probably benign	0.35
IGL03365:Qser1	APN	2	104,617,344 (GRCm39)	missense	probably damaging	1.00
Behoove	UTSW	2	104,617,322 (GRCm39)	nonsense	probably null
I1329:Qser1	UTSW	2	104,617,322 (GRCm39)	nonsense	probably null
R0270:Qser1	UTSW	2	104,619,306 (GRCm39)	missense	probably benign	0.03
R0395:Qser1	UTSW	2	104,593,226 (GRCm39)	missense	probably damaging	1.00
R0523:Qser1	UTSW	2	104,620,021 (GRCm39)	missense	probably damaging	1.00
R0727:Qser1	UTSW	2	104,607,656 (GRCm39)	splice site	probably benign
R1037:Qser1	UTSW	2	104,590,900 (GRCm39)	missense	probably damaging	0.99
R1222:Qser1	UTSW	2	104,607,776 (GRCm39)	missense	probably damaging	1.00
R1418:Qser1	UTSW	2	104,607,776 (GRCm39)	missense	probably damaging	1.00
R1891:Qser1	UTSW	2	104,620,444 (GRCm39)	missense	probably benign
R1974:Qser1	UTSW	2	104,590,886 (GRCm39)	missense	probably damaging	1.00
R2200:Qser1	UTSW	2	104,619,358 (GRCm39)	missense	probably damaging	1.00
R4179:Qser1	UTSW	2	104,606,729 (GRCm39)	missense	probably benign	0.19
R4379:Qser1	UTSW	2	104,596,404 (GRCm39)	splice site	probably null
R4418:Qser1	UTSW	2	104,619,766 (GRCm39)	missense	probably damaging	1.00
R4585:Qser1	UTSW	2	104,617,138 (GRCm39)	missense	probably benign	0.01
R4697:Qser1	UTSW	2	104,617,528 (GRCm39)	missense	probably benign	0.00
R4749:Qser1	UTSW	2	104,617,649 (GRCm39)	missense	probably benign	0.16
R4775:Qser1	UTSW	2	104,620,246 (GRCm39)	missense	probably damaging	1.00
R5010:Qser1	UTSW	2	104,618,176 (GRCm39)	missense	possibly damaging	0.67
R5070:Qser1	UTSW	2	104,617,627 (GRCm39)	missense	possibly damaging	0.49
R5268:Qser1	UTSW	2	104,617,776 (GRCm39)	missense	possibly damaging	0.47
R5384:Qser1	UTSW	2	104,616,987 (GRCm39)	missense	probably damaging	1.00
R5400:Qser1	UTSW	2	104,620,219 (GRCm39)	missense	probably damaging	1.00
R5502:Qser1	UTSW	2	104,616,919 (GRCm39)	missense	probably benign	0.00
R5615:Qser1	UTSW	2	104,620,039 (GRCm39)	missense	possibly damaging	0.78
R5664:Qser1	UTSW	2	104,608,541 (GRCm39)	missense	probably damaging	1.00
R5750:Qser1	UTSW	2	104,619,268 (GRCm39)	missense	probably damaging	1.00
R6035:Qser1	UTSW	2	104,617,468 (GRCm39)	missense	probably damaging	0.99
R6035:Qser1	UTSW	2	104,617,468 (GRCm39)	missense	probably damaging	0.99
R6171:Qser1	UTSW	2	104,619,628 (GRCm39)	missense	probably damaging	1.00
R6223:Qser1	UTSW	2	104,617,993 (GRCm39)	missense	probably benign	0.01
R6254:Qser1	UTSW	2	104,620,435 (GRCm39)	missense	probably benign	0.07
R6303:Qser1	UTSW	2	104,593,175 (GRCm39)	missense	probably damaging	1.00
R6653:Qser1	UTSW	2	104,610,605 (GRCm39)	missense	possibly damaging	0.85
R6703:Qser1	UTSW	2	104,607,670 (GRCm39)	missense	possibly damaging	0.50
R6970:Qser1	UTSW	2	104,618,475 (GRCm39)	missense	probably benign	0.25
R7064:Qser1	UTSW	2	104,617,464 (GRCm39)	missense	probably damaging	1.00
R7478:Qser1	UTSW	2	104,619,859 (GRCm39)	missense	probably damaging	1.00
R7643:Qser1	UTSW	2	104,617,322 (GRCm39)	nonsense	probably null
R7769:Qser1	UTSW	2	104,588,921 (GRCm39)	missense	possibly damaging	0.65
R7836:Qser1	UTSW	2	104,606,579 (GRCm39)	missense	probably damaging	1.00
R7938:Qser1	UTSW	2	104,619,312 (GRCm39)	missense	probably damaging	1.00
R8209:Qser1	UTSW	2	104,619,070 (GRCm39)	missense	probably benign	0.02
R8218:Qser1	UTSW	2	104,593,268 (GRCm39)	missense	probably damaging	1.00
R8226:Qser1	UTSW	2	104,619,070 (GRCm39)	missense	probably benign	0.02
R8341:Qser1	UTSW	2	104,619,820 (GRCm39)	missense	probably damaging	0.99
R8362:Qser1	UTSW	2	104,620,246 (GRCm39)	missense	probably damaging	1.00
R8785:Qser1	UTSW	2	104,618,098 (GRCm39)	missense	probably damaging	0.99
R8983:Qser1	UTSW	2	104,617,702 (GRCm39)	missense	probably benign	0.02
R9051:Qser1	UTSW	2	104,593,292 (GRCm39)	missense	possibly damaging	0.52
R9165:Qser1	UTSW	2	104,618,815 (GRCm39)	missense	probably benign	0.41
R9289:Qser1	UTSW	2	104,617,593 (GRCm39)	missense	possibly damaging	0.48
R9342:Qser1	UTSW	2	104,618,164 (GRCm39)	missense	probably benign	0.00
R9380:Qser1	UTSW	2	104,619,691 (GRCm39)	nonsense	probably null
R9736:Qser1	UTSW	2	104,619,988 (GRCm39)	missense	probably benign	0.00
T0722:Qser1	UTSW	2	104,617,177 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ACAACAGTGCCTGCTCTTGAG -3'
(R):5'- TATCCCAGCTGTAGCCATCC -3'

Sequencing Primer
(F):5'- AGTGCCTGCTCTTGAGACCAC -3'
(R):5'- CCATCCGCATGGGTATATGTG -3'

Posted On

2016-12-15