Mutagenetix > Incidental Mutations

Incidental Mutation 'R5604:Qrich1'

439189

Institutional Source

Beutler Lab

Gene Symbol

Qrich1

Ensembl Gene

ENSMUSG00000006673

Gene Name

glutamine-rich 1

Synonyms

2610028H07Rik

MMRRC Submission

043156-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R5604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108516806-108560163 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 108559303 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006851] [ENSMUST00000081111] [ENSMUST00000112155] [ENSMUST00000193421] [ENSMUST00000194904]

Predicted Effect

probably null
Transcript: ENSMUST00000006851

SMART Domains

Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	597	761	1.8e-65	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000081111

SMART Domains

Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	504	7.39e-260	SMART
CBS	117	168	9.4e-7	SMART
CBS	184	232	1.57e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112155

SMART Domains

Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC
low complexity region	419	443	N/A	INTRINSIC
low complexity region	457	478	N/A	INTRINSIC
Pfam:DUF3504	600	760	2.3e-64	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000193421

SMART Domains

Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	28	248	1.3e-18	SMART
CBS	92	143	4.5e-9	SMART
CBS	159	207	7.6e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194387

Predicted Effect

probably null
Transcript: ENSMUST00000194904

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

Domain	Start	End	E-Value	Type
IMPDH	1	319	5e-122	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195456

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including overriding aorta, double outlet right ventricle with atrioventricular septal defects and ventricular non-compaction, as well as cleft palate, cystic kidneys, and thymus hypoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,759,390	N164I	possibly damaging	Het
4933402J07Rik	C	A	8: 87,568,497	R88S	possibly damaging	Het
Abca1	A	T	4: 53,067,168		probably null	Het
Abca13	T	A	11: 9,566,279	I4406K	probably damaging	Het
Adam6b	T	A	12: 113,490,800	Y412*	probably null	Het
Ahcyl2	C	T	6: 29,908,367	H370Y	probably damaging	Het
Ahi1	A	G	10: 20,987,005	Y693C	probably damaging	Het
Anapc4	T	A	5: 52,841,734	Y129*	probably null	Het
Ankrd35	A	G	3: 96,684,899	T834A	probably benign	Het
Antxr2	T	C	5: 97,948,310	K372E	probably damaging	Het
Arhgef1	C	T	7: 24,912,785	H198Y	probably benign	Het
Barhl2	T	C	5: 106,455,546	E249G	probably benign	Het
C2cd5	T	C	6: 143,012,021	E987G	probably benign	Het
C87436	T	C	6: 86,447,355	S290P	probably benign	Het
Ccser1	C	T	6: 61,313,804	T490M	probably damaging	Het
Cd8b1	T	C	6: 71,326,175	V78A	probably benign	Het
Cdc25c	A	G	18: 34,733,648	Y374H	probably damaging	Het
Cmya5	C	T	13: 93,092,763	R1939H	probably benign	Het
Cyp2d40	A	G	15: 82,764,055	F19S	probably damaging	Het
Dll3	A	G	7: 28,294,632	V460A	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
E4f1	A	G	17: 24,444,144	I729T	probably damaging	Het
Endou	A	C	15: 97,720,919	S75A	probably benign	Het
Epas1	C	T	17: 86,805,772	H129Y	probably damaging	Het
Grm1	T	A	10: 10,746,735	N415Y	probably damaging	Het
Hdc	A	T	2: 126,594,663	S429R	probably benign	Het
Hnf4g	C	T	3: 3,657,126	Q447*	probably null	Het
Htr6	C	T	4: 139,061,503	A414T	probably benign	Het
Insig1	T	C	5: 28,075,082	L224P	probably damaging	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Irak2	T	A	6: 113,690,831	S458T	possibly damaging	Het
Irs2	A	G	8: 11,005,007	S1142P	possibly damaging	Het
Kirrel	T	A	3: 87,089,155	N379I	possibly damaging	Het
L3mbtl4	T	A	17: 68,777,922	D609E	probably benign	Het
Lama3	A	G	18: 12,439,348	T537A	probably benign	Het
Lce1i	A	T	3: 92,777,749	V40E	unknown	Het
Mprip	T	A	11: 59,758,467	V999D	probably benign	Het
Myd88	G	T	9: 119,339,763	T85K	possibly damaging	Het
Olfr395	T	A	11: 73,907,027	H155L	probably benign	Het
Padi6	A	T	4: 140,731,162	M473K	probably damaging	Het
Pcdh12	T	A	18: 38,268,882	S97C	probably damaging	Het
Pkd1l1	T	A	11: 8,833,877	D2026V	probably damaging	Het
Plcxd1	T	C	5: 110,102,585	V264A	probably benign	Het
Plekha4	T	C	7: 45,549,156	S558P	probably damaging	Het
Ppm1a	T	A	12: 72,790,681	M334K	probably benign	Het
Ppp1r13l	T	C	7: 19,375,599	S684P	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prl2a1	T	C	13: 27,806,386		probably benign	Het
Ptch1	T	C	13: 63,525,122	K753E	probably benign	Het
Ror2	G	A	13: 53,117,165	R373C	probably benign	Het
Rtn4	C	A	11: 29,708,140	L765I	probably damaging	Het
Sema3a	T	C	5: 13,473,520		probably null	Het
Setd2	T	A	9: 110,604,216	D62E	probably damaging	Het
Ss18	A	T	18: 14,636,520	Y327N	unknown	Het
Ticam1	G	A	17: 56,271,756	T113I	probably benign	Het
Tnrc6a	A	G	7: 123,174,236	I1134V	probably damaging	Het
Top3b	T	G	16: 16,889,535	Y526*	probably null	Het
Tph2	T	C	10: 115,090,709	E384G	probably damaging	Het
Ttll11	A	T	2: 35,817,786	I503N	probably benign	Het
Zfp87	T	G	13: 67,517,826	K172N	probably damaging	Het

Other mutations in Qrich1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03136:Qrich1	APN	9	108544918	missense	probably damaging	1.00
R0240:Qrich1	UTSW	9	108534134	missense	probably damaging	1.00
R0240:Qrich1	UTSW	9	108534134	missense	probably damaging	1.00
R0586:Qrich1	UTSW	9	108534520	missense	probably damaging	0.98
R0648:Qrich1	UTSW	9	108544877	missense	probably damaging	1.00
R1460:Qrich1	UTSW	9	108533647	unclassified	probably benign
R1478:Qrich1	UTSW	9	108559332	missense	probably benign	0.02
R1631:Qrich1	UTSW	9	108534485	missense	probably damaging	0.99
R1964:Qrich1	UTSW	9	108534422	missense	possibly damaging	0.92
R1984:Qrich1	UTSW	9	108534047	missense	probably damaging	0.99
R2054:Qrich1	UTSW	9	108559270	missense	possibly damaging	0.92
R4539:Qrich1	UTSW	9	108534200	missense	probably damaging	1.00
R5031:Qrich1	UTSW	9	108541736	missense	possibly damaging	0.70
R5353:Qrich1	UTSW	9	108544965	missense	probably damaging	1.00
R5510:Qrich1	UTSW	9	108556460	missense	possibly damaging	0.69
R5718:Qrich1	UTSW	9	108528823	missense	probably damaging	1.00
R5743:Qrich1	UTSW	9	108534115	missense	probably damaging	1.00
R5853:Qrich1	UTSW	9	108533608	unclassified	probably benign
R6317:Qrich1	UTSW	9	108534292	missense	probably damaging	1.00
R6470:Qrich1	UTSW	9	108534518	missense	probably damaging	0.98
R6552:Qrich1	UTSW	9	108534305	missense	possibly damaging	0.61
R6671:Qrich1	UTSW	9	108533786	missense	probably benign	0.03
R6858:Qrich1	UTSW	9	108534134	missense	probably damaging	1.00
R7453:Qrich1	UTSW	9	108556476	missense	possibly damaging	0.93
R7842:Qrich1	UTSW	9	108556368	splice site	probably null
R7879:Qrich1	UTSW	9	108559286	missense	possibly damaging	0.92
R8073:Qrich1	UTSW	9	108534428	missense	possibly damaging	0.56
R8158:Qrich1	UTSW	9	108556037	missense	probably damaging	0.99
R8241:Qrich1	UTSW	9	108556561	critical splice donor site	probably null
Z1177:Qrich1	UTSW	9	108534469	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGGTAAACAGCTGGAGC -3'
(R):5'- TCTCCTTTAGTGTGAAAGTCTGTC -3'

Sequencing Primer
(F):5'- TCTAGATGCTTATCTGCTGCCAATGG -3'
(R):5'- AAAGTCTGTCTGGTTTTTCCTGGATC -3'

Posted On

2016-10-26