Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Qser1'

420035

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: 0.693) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

104585140-104647105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104617344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1156 (N1156I)

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: N1066I

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

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: N1066I

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: N1156I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 25,202,809 (GRCm39)		probably benign	Het
Adam6a	T	A	12: 113,507,765 (GRCm39)	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,359,380 (GRCm39)	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,633,851 (GRCm39)	P307S	probably benign	Het
Aoc1l3	A	G	6: 48,965,531 (GRCm39)	D513G	probably damaging	Het
Asxl1	T	A	2: 153,243,674 (GRCm39)	I1408N	probably damaging	Het
Avil	T	C	10: 126,846,852 (GRCm39)	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,831,204 (GRCm39)	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,248,225 (GRCm39)	V380L	probably benign	Het
Clip1	A	C	5: 123,721,649 (GRCm39)	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,725,663 (GRCm39)		probably null	Het
Dock8	C	T	19: 25,077,048 (GRCm39)	P506L	possibly damaging	Het
Ecsit	A	C	9: 21,987,822 (GRCm39)	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,323,186 (GRCm39)	D15E	probably benign	Het
Enpp1	A	G	10: 24,544,923 (GRCm39)	Y319H	probably damaging	Het
Fat3	T	C	9: 15,907,765 (GRCm39)	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,732,932 (GRCm39)	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,138,230 (GRCm39)	R775W	probably damaging	Het
Hycc1	A	T	5: 24,188,158 (GRCm39)	Y245N	probably benign	Het
Lrp12	A	T	15: 39,735,917 (GRCm39)	S672T	probably benign	Het
Morf4l2	A	G	X: 135,634,464 (GRCm39)	Y255H	probably benign	Het
Mri1	A	G	8: 84,978,262 (GRCm39)	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,272,314 (GRCm39)	M1K	probably null	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Ofd1	C	A	X: 165,175,512 (GRCm39)	V951F	probably damaging	Het
Or4k51	G	T	2: 111,584,772 (GRCm39)	M59I	possibly damaging	Het
Or51r1	G	T	7: 102,227,836 (GRCm39)	V45F	probably benign	Het
Or6c208	T	A	10: 129,224,108 (GRCm39)	V202D	possibly damaging	Het
Parp12	G	A	6: 39,079,581 (GRCm39)	R310W	probably damaging	Het
Pcdh11x	T	A	X: 119,425,935 (GRCm39)	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993 (GRCm39)		probably benign	Het
Ptprz1	T	A	6: 23,030,581 (GRCm39)		probably benign	Het
Rgs3	T	A	4: 62,607,912 (GRCm39)	D59E	probably benign	Het
Rims2	T	C	15: 39,339,937 (GRCm39)	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,855,078 (GRCm39)	V263M	possibly damaging	Het
Scart2	T	A	7: 139,876,682 (GRCm39)	V691E	probably damaging	Het
Scfd2	G	T	5: 74,691,596 (GRCm39)	H229N	possibly damaging	Het
Sspo	T	C	6: 48,436,349 (GRCm39)	V1233A	possibly damaging	Het
Stam	T	A	2: 14,151,201 (GRCm39)	Y519*	probably null	Het
Synj2	A	G	17: 6,069,679 (GRCm39)	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,412,391 (GRCm39)	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,745,948 (GRCm39)		probably benign	Het
Ttc23	G	A	7: 67,312,085 (GRCm39)		probably benign	Het
Vmn1r90	T	C	7: 14,295,229 (GRCm39)	I290V	probably damaging	Het
Xirp1	A	C	9: 119,847,605 (GRCm39)	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,392,423 (GRCm39)	F430L	possibly damaging	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
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

2016-08-02