Mutagenetix > Incidental Mutation

Incidental Mutation 'R6046:Qrich2'

506187

Institutional Source

Beutler Lab

Gene Symbol

Qrich2

Ensembl Gene

ENSMUSG00000070331

Gene Name

glutamine rich 2

Synonyms

LOC217341

MMRRC Submission

044214-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116332151-116357067 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 116337832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

noncoding transcript
Transcript: ENSMUST00000140697

Predicted Effect

probably benign
Transcript: ENSMUST00000208602

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,223,947 (GRCm39)	V252A	unknown	Het
Actn4	T	C	7: 28,604,044 (GRCm39)	I406V	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ank1	T	A	8: 23,606,114 (GRCm39)	F1124I	probably damaging	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,476,790 (GRCm39)	V1000L	probably benign	Het
Bnip3	A	G	7: 138,511,033 (GRCm39)		probably benign	Het
Btnl6	T	A	17: 34,727,371 (GRCm39)	R386S	probably damaging	Het
Calcrl	A	G	2: 84,205,658 (GRCm39)	V11A	probably benign	Het
Cc2d1a	G	T	8: 84,863,571 (GRCm39)	A597D	possibly damaging	Het
Celsr3	A	G	9: 108,714,350 (GRCm39)	T1960A	probably benign	Het
Cfb	T	A	17: 35,081,078 (GRCm39)		probably null	Het
Chd8	A	G	14: 52,458,528 (GRCm39)	I860T	possibly damaging	Het
Col28a1	A	G	6: 8,168,102 (GRCm39)		probably null	Het
Crhr2	T	A	6: 55,068,277 (GRCm39)	T428S	probably damaging	Het
Crybg2	A	T	4: 133,819,388 (GRCm39)	I1753F	probably damaging	Het
Ctsq	A	T	13: 61,186,955 (GRCm39)	V46E	probably benign	Het
Cxcr1	T	C	1: 74,231,440 (GRCm39)	E194G	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Dpyd	T	A	3: 119,225,224 (GRCm39)	M999K	probably benign	Het
Gbp3	A	C	3: 142,273,560 (GRCm39)	D369A	possibly damaging	Het
Glmp	A	G	3: 88,232,495 (GRCm39)	E36G	probably damaging	Het
Gm10113	T	C	13: 46,330,919 (GRCm39)		noncoding transcript	Het
Gm6486	T	A	5: 3,120,846 (GRCm39)		noncoding transcript	Het
Gm973	T	G	1: 59,671,509 (GRCm39)	L891R	unknown	Het
Heatr3	C	T	8: 88,866,582 (GRCm39)	T8M	probably damaging	Het
Herc1	A	G	9: 66,352,831 (GRCm39)	M2106V	probably damaging	Het
Hfm1	A	T	5: 107,046,509 (GRCm39)		probably null	Het
Hspa14	A	G	2: 3,490,801 (GRCm39)	V462A	possibly damaging	Het
Hspa5	C	A	2: 34,665,761 (GRCm39)	T535K	possibly damaging	Het
Ift140	A	G	17: 25,274,563 (GRCm39)	D745G	probably benign	Het
Ift27	A	T	15: 78,057,981 (GRCm39)	C8S	possibly damaging	Het
Irak1bp1	G	A	9: 82,728,616 (GRCm39)	W182*	probably null	Het
Itga3	A	G	11: 94,953,541 (GRCm39)	I236T	probably benign	Het
Kctd15	T	A	7: 34,349,547 (GRCm39)	N26Y	possibly damaging	Het
Kdm1b	T	C	13: 47,232,729 (GRCm39)	V733A	possibly damaging	Het
Lhx8	A	T	3: 154,027,340 (GRCm39)	L234H	probably damaging	Het
Lrp2	T	A	2: 69,337,098 (GRCm39)	T1225S	probably damaging	Het
Lrrn1	G	A	6: 107,545,488 (GRCm39)	D429N	probably benign	Het
Mettl3	A	T	14: 52,536,243 (GRCm39)	N200K	possibly damaging	Het
Mixl1	G	T	1: 180,524,336 (GRCm39)	A81D	possibly damaging	Het
Mroh2b	T	C	15: 4,980,763 (GRCm39)	I1444T	probably benign	Het
Muc15	T	A	2: 110,561,786 (GRCm39)	L74*	probably null	Het
Olfm2	T	A	9: 20,579,824 (GRCm39)	Y317F	probably damaging	Het
Or52a33	C	T	7: 103,288,886 (GRCm39)	V154M	probably benign	Het
Or5b114-ps1	G	A	19: 13,352,698 (GRCm39)	S124N	probably benign	Het
Or5p54	T	A	7: 107,554,001 (GRCm39)	I51N	probably benign	Het
Pclo	A	T	5: 14,763,302 (GRCm39)	Y3925F	unknown	Het
Pik3c2g	A	T	6: 139,599,137 (GRCm39)	R84S	probably damaging	Het
Pik3c2g	A	G	6: 139,842,518 (GRCm39)	Q449R	probably damaging	Het
Psg28	T	C	7: 18,160,305 (GRCm39)	E297G	probably damaging	Het
Rgs9	A	G	11: 109,130,386 (GRCm39)	I363T	probably damaging	Het
Rnpepl1	A	G	1: 92,844,543 (GRCm39)	D345G	probably damaging	Het
Rtn4	T	A	11: 29,658,023 (GRCm39)	F726I	probably damaging	Het
Sart3	A	T	5: 113,893,507 (GRCm39)	I330N	probably damaging	Het
Scn5a	T	C	9: 119,391,440 (GRCm39)	D84G	probably damaging	Het
Sema4a	T	C	3: 88,348,008 (GRCm39)	T438A	probably damaging	Het
Sfxn1	A	C	13: 54,242,961 (GRCm39)	Y73S	probably benign	Het
Slc24a2	A	G	4: 86,914,882 (GRCm39)	M585T	probably damaging	Het
Slc26a7	A	G	4: 14,505,471 (GRCm39)	V656A	probably benign	Het
Smok2a	T	G	17: 13,445,021 (GRCm39)	D199E	probably benign	Het
Tbc1d10c	T	C	19: 4,235,030 (GRCm39)	I344V	probably benign	Het
Tll1	A	T	8: 64,506,925 (GRCm39)	Y605*	probably null	Het
Trim75	G	A	8: 65,435,535 (GRCm39)	P305L	probably damaging	Het
Unc13c	T	C	9: 73,838,166 (GRCm39)	N895S	probably benign	Het
Vmn2r25	A	T	6: 123,799,876 (GRCm39)	I822N	probably damaging	Het
Wasf3	T	G	5: 146,407,166 (GRCm39)	D495E	unknown	Het
Wdhd1	T	A	14: 47,510,667 (GRCm39)	K119*	probably null	Het
Wnt2b	T	A	3: 104,858,339 (GRCm39)	D310V	probably damaging	Het
Zfat	G	T	15: 68,052,626 (GRCm39)	D389E	probably damaging	Het
Zfp282	G	A	6: 47,857,102 (GRCm39)	V112M	probably damaging	Het
Zfp617	A	T	8: 72,687,257 (GRCm39)	K529I	probably damaging	Het
Zfp866	A	T	8: 70,218,373 (GRCm39)	C416S	probably damaging	Het
Zfp991	G	A	4: 147,264,222 (GRCm39)	G533D	probably benign	Het

Other mutations in Qrich2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Qrich2	UTSW	11	116,347,025 (GRCm39)	small deletion	probably benign
R0122:Qrich2	UTSW	11	116,337,639 (GRCm39)	missense	possibly damaging	0.61
R0157:Qrich2	UTSW	11	116,332,221 (GRCm39)	missense	probably damaging	1.00
R1479:Qrich2	UTSW	11	116,332,311 (GRCm39)	missense	probably benign	0.08
R1786:Qrich2	UTSW	11	116,332,275 (GRCm39)	missense	probably damaging	1.00
R2115:Qrich2	UTSW	11	116,337,982 (GRCm39)	missense	probably damaging	0.99
R2130:Qrich2	UTSW	11	116,339,243 (GRCm39)	splice site	probably benign
R2178:Qrich2	UTSW	11	116,334,603 (GRCm39)	missense	probably damaging	1.00
R3875:Qrich2	UTSW	11	116,336,477 (GRCm39)	missense	probably damaging	0.98
R4378:Qrich2	UTSW	11	116,337,741 (GRCm39)	missense	probably damaging	1.00
R5124:Qrich2	UTSW	11	116,337,599 (GRCm39)	missense	probably damaging	1.00
R5362:Qrich2	UTSW	11	116,337,976 (GRCm39)	missense	probably damaging	1.00
R5468:Qrich2	UTSW	11	116,339,191 (GRCm39)	missense	probably damaging	1.00
R5493:Qrich2	UTSW	11	116,336,774 (GRCm39)	critical splice donor site	probably null
R5589:Qrich2	UTSW	11	116,332,234 (GRCm39)	missense	probably damaging	1.00
R5696:Qrich2	UTSW	11	116,335,828 (GRCm39)	missense	probably damaging	1.00
R6183:Qrich2	UTSW	11	116,348,955 (GRCm39)	unclassified	probably benign
R6193:Qrich2	UTSW	11	116,344,979 (GRCm39)	missense	probably benign	0.07
R6211:Qrich2	UTSW	11	116,344,368 (GRCm39)	missense	probably benign	0.41
R6375:Qrich2	UTSW	11	116,349,054 (GRCm39)	unclassified	probably benign
R6452:Qrich2	UTSW	11	116,346,714 (GRCm39)	missense	probably benign	0.01
R6870:Qrich2	UTSW	11	116,346,156 (GRCm39)	missense	probably damaging	0.96
R7073:Qrich2	UTSW	11	116,337,701 (GRCm39)	missense	probably damaging	0.98
R7552:Qrich2	UTSW	11	116,347,080 (GRCm39)	missense	possibly damaging	0.63
R7585:Qrich2	UTSW	11	116,346,547 (GRCm39)	missense	probably benign	0.00
R7586:Qrich2	UTSW	11	116,346,450 (GRCm39)	missense	probably benign	0.43
R7588:Qrich2	UTSW	11	116,356,763 (GRCm39)	missense	possibly damaging	0.53
R7633:Qrich2	UTSW	11	116,347,455 (GRCm39)	missense	unknown
R7638:Qrich2	UTSW	11	116,346,148 (GRCm39)	missense	probably benign	0.00
R7736:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R7737:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R7753:Qrich2	UTSW	11	116,347,868 (GRCm39)	small deletion	probably benign
R7800:Qrich2	UTSW	11	116,347,686 (GRCm39)	nonsense	probably null
R7833:Qrich2	UTSW	11	116,346,591 (GRCm39)	missense	probably benign	0.04
R7912:Qrich2	UTSW	11	116,346,608 (GRCm39)	small deletion	probably benign
R7923:Qrich2	UTSW	11	116,348,163 (GRCm39)	missense	probably damaging	1.00
R8197:Qrich2	UTSW	11	116,347,861 (GRCm39)	small deletion	probably benign
R8225:Qrich2	UTSW	11	116,344,894 (GRCm39)	missense	probably damaging	1.00
R8300:Qrich2	UTSW	11	116,347,175 (GRCm39)	missense	probably benign	0.04
R8391:Qrich2	UTSW	11	116,356,403 (GRCm39)	missense	probably benign	0.00
R8705:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R8792:Qrich2	UTSW	11	116,347,456 (GRCm39)	missense	unknown
R8912:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R9025:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R9121:Qrich2	UTSW	11	116,347,272 (GRCm39)	missense	unknown
R9130:Qrich2	UTSW	11	116,347,692 (GRCm39)	nonsense	probably null
R9219:Qrich2	UTSW	11	116,335,900 (GRCm39)	missense	possibly damaging	0.47
R9254:Qrich2	UTSW	11	116,348,934 (GRCm39)	missense	unknown
R9256:Qrich2	UTSW	11	116,356,450 (GRCm39)	missense	probably benign	0.10
R9288:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R9379:Qrich2	UTSW	11	116,348,934 (GRCm39)	missense	unknown
R9448:Qrich2	UTSW	11	116,338,091 (GRCm39)	missense	probably benign	0.01
R9521:Qrich2	UTSW	11	116,339,208 (GRCm39)	missense	probably damaging	1.00
R9620:Qrich2	UTSW	11	116,337,946 (GRCm39)	missense	probably damaging	1.00
R9631:Qrich2	UTSW	11	116,348,367 (GRCm39)	small deletion	probably benign
R9639:Qrich2	UTSW	11	116,346,924 (GRCm39)	missense	probably benign	0.00
R9694:Qrich2	UTSW	11	116,337,946 (GRCm39)	missense	probably damaging	1.00
Z1176:Qrich2	UTSW	11	116,347,204 (GRCm39)	missense	probably benign	0.00
Z1177:Qrich2	UTSW	11	116,347,494 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAAGTTTCTGCCAGTCTTGCTC -3'
(R):5'- ACTCTCTCGGCATTGCTGAC -3'

Sequencing Primer
(F):5'- GCTCATCTTGGCCACCAG -3'
(R):5'- CGGCATTGCTGACTCTTCC -3'

Posted On

2018-03-08