Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Qrich2'

589774

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116441325-116466241 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116456629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1123 (I1123K)

Ref Sequence

ENSEMBL: ENSMUSP00000147009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093909] [ENSMUST00000208602]

AlphaFold

Q3V2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000093909

SMART Domains

Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Pfam:DUF4795	97	304	3.7e-71	PFAM
low complexity region	471	491	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000208602
AA Change: I1123K

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	C	A	11: 58,447,478	M29I	probably benign	Het
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Acaca	A	G	11: 84,372,639	I2029V	probably benign	Het
Anks1b	A	C	10: 90,948,584	D1138A	probably damaging	Het
Atr	T	A	9: 95,947,118	V2508E	probably damaging	Het
C4b	C	T	17: 34,729,399		probably null	Het
C530008M17Rik	A	G	5: 76,857,520	E576G	unknown	Het
Cd46	A	T	1: 195,083,619	M146K	probably null	Het
Chp1	A	G	2: 119,560,745	I28V	probably benign	Het
Chrnb1	T	A	11: 69,792,873	R216W	probably damaging	Het
Clmn	G	A	12: 104,782,112	T392M	probably benign	Het
Dcxr	A	C	11: 120,726,453	L88R	probably benign	Het
Dedd	C	T	1: 171,338,910	P138L	probably benign	Het
Degs1	A	G	1: 182,279,698	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,815,780	D851G	possibly damaging	Het
Fam117b	A	G	1: 59,981,534	D521G	probably damaging	Het
Fam26d	G	A	10: 34,043,908	T121M	possibly damaging	Het
Gm14085	A	T	2: 122,486,680	R7S	probably null	Het
Gm21731	G	A	13: 120,240,840	W57*	probably null	Het
Gm6882	A	G	7: 21,427,652	V97A	probably damaging	Het
Hgs	A	T	11: 120,474,302	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,346,662	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,341,399		probably benign	Het
Ikbkb	T	C	8: 22,671,741	N377S	probably benign	Het
Intu	G	A	3: 40,654,253	G232S	probably damaging	Het
Mov10	A	G	3: 104,797,065	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,583	F194L	probably benign	Het
Notch3	A	T	17: 32,158,622	I160K	probably benign	Het
Nup155	C	G	15: 8,109,453	S3W	probably damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr284	A	G	15: 98,340,086	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,956,151	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,552,436	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,980,654	A200V	probably damaging	Het
Rgs1	A	G	1: 144,248,477		probably null	Het
Skint7	T	A	4: 111,984,140	V259E	probably benign	Het
Slc25a3	A	T	10: 91,118,042		probably null	Het
Slco1a6	A	T	6: 142,145,755	I73N	probably damaging	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Spock2	G	A	10: 60,126,180	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,367,838	R185S	probably damaging	Het
Supt16	A	G	14: 52,197,099	Y18H	probably benign	Het
Synpo	G	A	18: 60,603,428	T482I	probably damaging	Het
Tmc6	G	T	11: 117,769,220	T694K	probably benign	Het
Trim59	T	A	3: 69,037,926	H27L	probably damaging	Het
Trpv2	G	A	11: 62,591,006		probably null	Het
Tyw5	A	T	1: 57,393,485	D117E	probably benign	Het
Usp17la	T	C	7: 104,861,147	Y320H	probably damaging	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,843,023	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,425,089	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,318,996	N29S	probably benign	Het
Zfp954	A	T	7: 7,115,824	F240L	possibly damaging	Het

Other mutations in Qrich2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Qrich2	UTSW	11	116456199	small deletion	probably benign
R0122:Qrich2	UTSW	11	116446813	missense	possibly damaging	0.61
R0157:Qrich2	UTSW	11	116441395	missense	probably damaging	1.00
R1479:Qrich2	UTSW	11	116441485	missense	probably benign	0.08
R1786:Qrich2	UTSW	11	116441449	missense	probably damaging	1.00
R2115:Qrich2	UTSW	11	116447156	missense	probably damaging	0.99
R2130:Qrich2	UTSW	11	116448417	splice site	probably benign
R2178:Qrich2	UTSW	11	116443777	missense	probably damaging	1.00
R3875:Qrich2	UTSW	11	116445651	missense	probably damaging	0.98
R4378:Qrich2	UTSW	11	116446915	missense	probably damaging	1.00
R5124:Qrich2	UTSW	11	116446773	missense	probably damaging	1.00
R5362:Qrich2	UTSW	11	116447150	missense	probably damaging	1.00
R5468:Qrich2	UTSW	11	116448365	missense	probably damaging	1.00
R5493:Qrich2	UTSW	11	116445948	critical splice donor site	probably null
R5589:Qrich2	UTSW	11	116441408	missense	probably damaging	1.00
R5696:Qrich2	UTSW	11	116445002	missense	probably damaging	1.00
R6046:Qrich2	UTSW	11	116447006	intron	probably benign
R6183:Qrich2	UTSW	11	116458129	unclassified	probably benign
R6193:Qrich2	UTSW	11	116454153	missense	probably benign	0.07
R6211:Qrich2	UTSW	11	116453542	missense	probably benign	0.41
R6375:Qrich2	UTSW	11	116458228	unclassified	probably benign
R6452:Qrich2	UTSW	11	116455888	missense	probably benign	0.01
R6870:Qrich2	UTSW	11	116455330	missense	probably damaging	0.96
R7073:Qrich2	UTSW	11	116446875	missense	probably damaging	0.98
R7552:Qrich2	UTSW	11	116456254	missense	possibly damaging	0.63
R7585:Qrich2	UTSW	11	116455721	missense	probably benign	0.00
R7586:Qrich2	UTSW	11	116455624	missense	probably benign	0.43
R7588:Qrich2	UTSW	11	116465937	missense	possibly damaging	0.53
R7638:Qrich2	UTSW	11	116455322	missense	probably benign	0.00
R7736:Qrich2	UTSW	11	116457541	small deletion	probably benign
R7737:Qrich2	UTSW	11	116457541	small deletion	probably benign
R7753:Qrich2	UTSW	11	116457042	small deletion	probably benign
R7800:Qrich2	UTSW	11	116456860	nonsense	probably null
R7833:Qrich2	UTSW	11	116455765	missense	probably benign	0.04
R7912:Qrich2	UTSW	11	116455782	small deletion	probably benign
R7923:Qrich2	UTSW	11	116457337	missense	probably damaging	1.00
R8197:Qrich2	UTSW	11	116457035	small deletion	probably benign
R8225:Qrich2	UTSW	11	116454068	missense	probably damaging	1.00
R8300:Qrich2	UTSW	11	116456349	missense	probably benign	0.04
R8391:Qrich2	UTSW	11	116465577	missense	probably benign	0.00
R8705:Qrich2	UTSW	11	116457541	small deletion	probably benign
R8792:Qrich2	UTSW	11	116456630	missense	unknown
R8912:Qrich2	UTSW	11	116457541	small deletion	probably benign
R9025:Qrich2	UTSW	11	116457541	small deletion	probably benign
R9121:Qrich2	UTSW	11	116456446	missense	unknown
R9130:Qrich2	UTSW	11	116456866	nonsense	probably null
R9219:Qrich2	UTSW	11	116445074	missense	possibly damaging	0.47
R9254:Qrich2	UTSW	11	116458108	missense	unknown
R9256:Qrich2	UTSW	11	116465624	missense	probably benign	0.10
R9288:Qrich2	UTSW	11	116457541	small deletion	probably benign
R9379:Qrich2	UTSW	11	116458108	missense	unknown
R9448:Qrich2	UTSW	11	116447265	missense	probably benign	0.01
R9521:Qrich2	UTSW	11	116448382	missense	probably damaging	1.00
R9620:Qrich2	UTSW	11	116447120	missense	probably damaging	1.00
R9631:Qrich2	UTSW	11	116457541	small deletion	probably benign
R9639:Qrich2	UTSW	11	116456098	missense	probably benign	0.00
R9694:Qrich2	UTSW	11	116447120	missense	probably damaging	1.00
Z1176:Qrich2	UTSW	11	116456378	missense	probably benign	0.00
Z1177:Qrich2	UTSW	11	116456668	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGTCAGGTTGTGCCACACC -3'
(R):5'- GTTGCATACTCACTTGGCTTGG -3'

Sequencing Primer
(F):5'- TTGCCAGGGTGTGCCAC -3'
(R):5'- CTTGGGCCAACCTGGTATAG -3'

Posted On

2019-10-24