Mutagenetix > Incidental Mutation

Incidental Mutation 'R2200:Qser1'

238588

Institutional Source

Beutler Lab

Gene Symbol

Qser1

Ensembl Gene

ENSMUSG00000074994

Gene Name

glutamine and serine rich 1

Synonyms

4732486I23Rik

MMRRC Submission

040202-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R2200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104585140-104647105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104619358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 485 (S485P)

Ref Sequence

ENSEMBL: ENSMUSP00000155882 (fasta)

Gene Model

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

AlphaFold

A0A338P6K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117237
AA Change: S395P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: S395P

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: S485P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer1	T	C	17: 57,265,423 (GRCm39)	I135M	probably benign	Het
Ano7	A	G	1: 93,308,158 (GRCm39)	E63G	possibly damaging	Het
Asah1	A	G	8: 41,796,765 (GRCm39)		probably null	Het
B3gat2	C	T	1: 23,801,873 (GRCm39)	P53L	probably benign	Het
Bmp8b	A	T	4: 123,016,815 (GRCm39)	M339L	possibly damaging	Het
Bpifb9b	C	A	2: 154,155,574 (GRCm39)	Q358K	probably benign	Het
Cbs	T	C	17: 31,843,238 (GRCm39)	D231G	probably damaging	Het
Chd6	A	G	2: 160,825,673 (GRCm39)	Y1144H	probably damaging	Het
Clca3a2	T	A	3: 144,519,685 (GRCm39)	I230L	probably benign	Het
Clec2d	A	T	6: 129,161,831 (GRCm39)	T155S	possibly damaging	Het
Cpxm1	G	T	2: 130,235,117 (GRCm39)	F567L	probably damaging	Het
Cyp4f16	G	T	17: 32,756,078 (GRCm39)	A36S	probably damaging	Het
Dnah17	T	C	11: 117,993,235 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,791,676 (GRCm39)	D1280G	probably damaging	Het
Ergic1	C	A	17: 26,860,566 (GRCm39)	A218D	possibly damaging	Het
Eva1a	A	G	6: 82,068,894 (GRCm39)	R74G	probably benign	Het
Fhip1a	A	G	3: 85,637,628 (GRCm39)	S224P	probably damaging	Het
Fus	T	A	7: 127,576,400 (GRCm39)	N273K	probably damaging	Het
Ipo13	A	C	4: 117,762,100 (GRCm39)		probably null	Het
Itgb3	T	A	11: 104,531,812 (GRCm39)		probably null	Het
Lrif1	T	A	3: 106,641,874 (GRCm39)	S63R	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Lrp1b	A	T	2: 41,174,177 (GRCm39)	N1547K	probably benign	Het
Mme	A	T	3: 63,287,713 (GRCm39)	N738I	possibly damaging	Het
Morc2a	A	G	11: 3,633,919 (GRCm39)	N677S	probably benign	Het
Mrpl35	A	C	6: 71,794,723 (GRCm39)	L82V	probably benign	Het
Mybpc1	A	T	10: 88,391,557 (GRCm39)	N313K	probably damaging	Het
Podn	T	C	4: 107,879,787 (GRCm39)	D66G	probably damaging	Het
Ptpru	A	T	4: 131,548,124 (GRCm39)	N52K	probably damaging	Het
Pyroxd1	G	T	6: 142,304,808 (GRCm39)	R345L	probably benign	Het
Rbm46	A	T	3: 82,771,351 (GRCm39)	D421E	probably benign	Het
Rgs10	T	C	7: 127,990,761 (GRCm39)	E109G	probably damaging	Het
Samd8	C	T	14: 21,825,388 (GRCm39)	P178S	probably benign	Het
Scaf11	T	C	15: 96,318,404 (GRCm39)	K387E	probably damaging	Het
Sccpdh	G	T	1: 179,498,171 (GRCm39)	V72F	possibly damaging	Het
Sec22a	A	T	16: 35,134,527 (GRCm39)	V285E	probably damaging	Het
Slc19a3	A	G	1: 83,000,664 (GRCm39)	S118P	probably damaging	Het
Sun1	C	A	5: 139,216,974 (GRCm39)	R338S	probably benign	Het
Taf1c	A	G	8: 120,325,417 (GRCm39)	F815S	probably benign	Het
Zcchc14	A	T	8: 122,332,167 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- GAAACTGGCAAGCTCTGACC -3'
(R):5'- TGCCATCTATTGTTCATTCACAGG -3'

Sequencing Primer
(F):5'- AAGCTCTGACCCCGAGAG -3'
(R):5'- TCACAGGTTTATAGGTCCAGCAG -3'

Posted On

2014-10-02