Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00756:Qser1'

13714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

IGL00756

Quality Score

Status

Chromosome

Chromosomal Location

104585140-104647105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104618016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 932 (M932T)

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: M842T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: M842T

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

possibly damaging
Transcript: ENSMUST00000231375
AA Change: M932T

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	T	2: 48,763,064 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 36,962,367 (GRCm39)	H489Q	probably damaging	Het
Col19a1	T	A	1: 24,362,023 (GRCm39)	K583N	possibly damaging	Het
Cplane1	A	G	15: 8,293,931 (GRCm39)		probably benign	Het
Crot	C	A	5: 9,026,072 (GRCm39)	R305L	probably damaging	Het
Ctnnal1	A	T	4: 56,829,544 (GRCm39)	N428K	possibly damaging	Het
Dab1	A	G	4: 104,585,075 (GRCm39)	K405R	probably benign	Het
Dnah6	A	C	6: 73,100,754 (GRCm39)	F2016L	possibly damaging	Het
Fgfrl1	A	G	5: 108,853,819 (GRCm39)	K309E	possibly damaging	Het
Gucy1b2	T	C	14: 62,640,658 (GRCm39)	H749R	probably benign	Het
Mki67	A	T	7: 135,300,460 (GRCm39)	S1525T	possibly damaging	Het
Mob1a	T	A	6: 83,309,468 (GRCm39)	Y72N	probably damaging	Het
Ntrk1	C	T	3: 87,691,004 (GRCm39)	E387K	probably benign	Het
Rarb	C	A	14: 16,443,791 (GRCm38)	E166*	probably null	Het
Thnsl1	T	A	2: 21,217,423 (GRCm39)	H392Q	probably benign	Het
Tmem171	T	A	13: 98,822,934 (GRCm39)	R288S	probably benign	Het
Zc4h2	T	A	X: 94,685,807 (GRCm39)	R186*	probably null	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
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
R5793:Qser1	UTSW	2	104,593,205 (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

Posted On

2012-12-06