Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Qrich2'

487632

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116441325-116466241 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 116458129 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091437 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000134182

SMART Domains

Protein: ENSMUSP00000115947
Gene: ENSMUSG00000070331

Domain	Start	End	E-Value	Type
Blast:MYSc	1	287	4e-80	BLAST
coiled coil region	336	351	N/A	INTRINSIC
low complexity region	602	622	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000208602
AA Change: H623L

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	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
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
R7633:Qrich2	UTSW	11	116456629	missense	unknown
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
R7916:Qrich2	UTSW	11	116455765	missense	probably benign	0.04
Z1176:Qrich2	UTSW	11	116456378	missense	probably benign	0.00
Z1177:Qrich2	UTSW	11	116456668	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACGTTGATCTACACTAGGCTG -3'
(R):5'- TTAGATCGGCGCAGTTCAGTG -3'

Sequencing Primer
(F):5'- TTGATCTACACTAGGCTGTACCCAAC -3'
(R):5'- CGCAGTTCAGTGCCTGTAG -3'

Posted On

2017-10-10