Mutagenetix > Incidental Mutation

Incidental Mutation 'R0586:Qrich1'

55767

Institutional Source

Beutler Lab

Gene Symbol

Qrich1

Ensembl Gene

ENSMUSG00000006673

Gene Name

glutamine-rich 1

Synonyms

2610028H07Rik, b2b2404Clo

MMRRC Submission

038776-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R0586 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

108394010-108437366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108411719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 415 (H415Y)

Ref Sequence

ENSEMBL: ENSMUSP00000141267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006851] [ENSMUST00000112155] [ENSMUST00000193258] [ENSMUST00000194385] [ENSMUST00000194741] [ENSMUST00000195563]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006851
AA Change: H415Y

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: H415Y

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

possibly damaging
Transcript: ENSMUST00000112155
AA Change: H415Y

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: H415Y

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

noncoding transcript
Transcript: ENSMUST00000193127

Predicted Effect

probably damaging
Transcript: ENSMUST00000193258
AA Change: H415Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673
AA Change: H415Y

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	9e-3	SMART
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

Predicted Effect

probably benign
Transcript: ENSMUST00000194385

SMART Domains

Protein: ENSMUSP00000142211
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1cy5a_	9	45	8e-3	SMART
low complexity region	79	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194741

SMART Domains

Protein: ENSMUSP00000142233
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	4e-3	SMART
low complexity region	80	119	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194743

Predicted Effect

probably benign
Transcript: ENSMUST00000195563

SMART Domains

Protein: ENSMUSP00000141716
Gene: ENSMUSG00000006673

Domain	Start	End	E-Value	Type
SCOP:d1dgna_	7	48	9e-3	SMART
low complexity region	79	123	N/A	INTRINSIC
low complexity region	128	146	N/A	INTRINSIC
low complexity region	150	192	N/A	INTRINSIC

Meta Mutation Damage Score

0.0835

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,092,860 (GRCm39)	V308E	probably benign	Het
Amy1	A	G	3: 113,356,418 (GRCm39)		probably benign	Het
Astn2	C	T	4: 66,103,379 (GRCm39)	V345M	unknown	Het
Brwd1	T	C	16: 95,844,286 (GRCm39)	E756G	probably damaging	Het
Ccpg1	C	T	9: 72,909,103 (GRCm39)	L135F	probably benign	Het
Cecr2	C	T	6: 120,734,845 (GRCm39)	H694Y	probably damaging	Het
Cfh	G	A	1: 140,110,920 (GRCm39)	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,741,172 (GRCm39)	R268*	probably null	Het
Clca3a1	T	A	3: 144,738,350 (GRCm39)	I53L	probably benign	Het
Clcn6	A	G	4: 148,123,206 (GRCm39)		probably benign	Het
Cnfn	C	T	7: 25,067,256 (GRCm39)	V98I	probably benign	Het
Cntnap1	C	T	11: 101,077,840 (GRCm39)	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,272,024 (GRCm39)	E384V	probably damaging	Het
Ctr9	T	C	7: 110,648,705 (GRCm39)		probably benign	Het
Ctsj	T	A	13: 61,151,515 (GRCm39)		probably benign	Het
Cyp2c39	A	C	19: 39,501,934 (GRCm39)		probably benign	Het
Dock5	A	C	14: 68,046,481 (GRCm39)	I767S	probably damaging	Het
Eftud2	T	C	11: 102,737,446 (GRCm39)	T552A	probably damaging	Het
Epdr1	A	G	13: 19,778,715 (GRCm39)	I25T	probably damaging	Het
Fcgbp	A	T	7: 27,789,138 (GRCm39)	D568V	probably damaging	Het
Fcgbpl1	T	A	7: 27,836,516 (GRCm39)	V145D	probably damaging	Het
Fhip1b	T	C	7: 105,038,654 (GRCm39)	E195G	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fuz	T	C	7: 44,547,982 (GRCm39)	V183A	possibly damaging	Het
Grb7	T	C	11: 98,344,046 (GRCm39)	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,209,713 (GRCm39)	G40C	probably damaging	Het
Kcnn1	T	C	8: 71,316,513 (GRCm39)		probably benign	Het
Kmt2d	C	A	15: 98,733,088 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,203,732 (GRCm39)	V366A	unknown	Het
Ldlr	G	A	9: 21,651,040 (GRCm39)	R486H	probably benign	Het
Lnpep	A	T	17: 17,795,658 (GRCm39)		probably benign	Het
Mical3	A	T	6: 121,006,602 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,992,250 (GRCm39)		probably benign	Het
Nup155	T	A	15: 8,159,716 (GRCm39)	H542Q	probably benign	Het
Opn4	A	G	14: 34,320,930 (GRCm39)		probably benign	Het
Or13a20	T	C	7: 140,231,976 (GRCm39)	F28S	probably benign	Het
Or4a68	T	A	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Or8g4	A	T	9: 39,662,414 (GRCm39)	H244L	probably damaging	Het
Or8h10	T	C	2: 86,809,126 (GRCm39)	N5D	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp14	T	C	16: 35,661,382 (GRCm39)	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,594,335 (GRCm39)	D1259E	probably benign	Het
Pogz	C	T	3: 94,786,664 (GRCm39)	A1084V	probably damaging	Het
Popdc3	G	A	10: 45,191,359 (GRCm39)	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,183 (GRCm39)	Y423C	probably damaging	Het
Rabgap1	A	G	2: 37,433,235 (GRCm39)	N801D	probably benign	Het
Rb1	A	G	14: 73,525,124 (GRCm39)		probably benign	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,650,445 (GRCm39)	D356G	probably null	Het
Skint8	C	G	4: 111,794,126 (GRCm39)	P172R	probably damaging	Het
Slc12a8	T	G	16: 33,478,600 (GRCm39)	M643R	possibly damaging	Het
Sult1c2	A	T	17: 54,271,113 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,640,321 (GRCm39)	L272P	probably damaging	Het
Tcaf1	T	A	6: 42,650,473 (GRCm39)	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,154,219 (GRCm39)	N78S	probably damaging	Het
Tectb	A	T	19: 55,170,356 (GRCm39)	Y69F	probably damaging	Het
Them4	A	T	3: 94,237,101 (GRCm39)	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,244,582 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,631,510 (GRCm39)		probably benign	Het
Tns2	G	T	15: 102,018,020 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,118 (GRCm39)	D487G	probably damaging	Het
Trim33	T	A	3: 103,217,660 (GRCm39)	C202S	probably damaging	Het
Trpm2	T	A	10: 77,759,350 (GRCm39)	I1145F	probably damaging	Het
Trpv2	A	G	11: 62,483,596 (GRCm39)	T478A	probably benign	Het
Ube2e3	T	C	2: 78,750,334 (GRCm39)	Y187H	probably benign	Het
Ubxn11	A	G	4: 133,836,963 (GRCm39)	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,366,487 (GRCm39)	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,315,502 (GRCm39)	S1325T	possibly damaging	Het

Other mutations in Qrich1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03136:Qrich1	APN	9	108,422,117 (GRCm39)	missense	probably damaging	1.00
R0240:Qrich1	UTSW	9	108,411,333 (GRCm39)	missense	probably damaging	1.00
R0240:Qrich1	UTSW	9	108,411,333 (GRCm39)	missense	probably damaging	1.00
R0648:Qrich1	UTSW	9	108,422,076 (GRCm39)	missense	probably damaging	1.00
R1460:Qrich1	UTSW	9	108,410,846 (GRCm39)	unclassified	probably benign
R1478:Qrich1	UTSW	9	108,436,531 (GRCm39)	missense	probably benign	0.02
R1631:Qrich1	UTSW	9	108,411,684 (GRCm39)	missense	probably damaging	0.99
R1964:Qrich1	UTSW	9	108,411,621 (GRCm39)	missense	possibly damaging	0.92
R1984:Qrich1	UTSW	9	108,411,246 (GRCm39)	missense	probably damaging	0.99
R2054:Qrich1	UTSW	9	108,436,469 (GRCm39)	missense	possibly damaging	0.92
R4539:Qrich1	UTSW	9	108,411,399 (GRCm39)	missense	probably damaging	1.00
R5031:Qrich1	UTSW	9	108,418,935 (GRCm39)	missense	possibly damaging	0.70
R5353:Qrich1	UTSW	9	108,422,164 (GRCm39)	missense	probably damaging	1.00
R5510:Qrich1	UTSW	9	108,433,659 (GRCm39)	missense	possibly damaging	0.69
R5604:Qrich1	UTSW	9	108,436,502 (GRCm39)	unclassified	probably benign
R5718:Qrich1	UTSW	9	108,406,022 (GRCm39)	missense	probably damaging	1.00
R5743:Qrich1	UTSW	9	108,411,314 (GRCm39)	missense	probably damaging	1.00
R5853:Qrich1	UTSW	9	108,410,807 (GRCm39)	unclassified	probably benign
R6317:Qrich1	UTSW	9	108,411,491 (GRCm39)	missense	probably damaging	1.00
R6470:Qrich1	UTSW	9	108,411,717 (GRCm39)	missense	probably damaging	0.98
R6552:Qrich1	UTSW	9	108,411,504 (GRCm39)	missense	possibly damaging	0.61
R6671:Qrich1	UTSW	9	108,410,985 (GRCm39)	missense	probably benign	0.03
R6858:Qrich1	UTSW	9	108,411,333 (GRCm39)	missense	probably damaging	1.00
R7453:Qrich1	UTSW	9	108,433,675 (GRCm39)	missense	possibly damaging	0.93
R7842:Qrich1	UTSW	9	108,433,567 (GRCm39)	splice site	probably null
R7879:Qrich1	UTSW	9	108,436,485 (GRCm39)	missense	possibly damaging	0.92
R8073:Qrich1	UTSW	9	108,411,627 (GRCm39)	missense	possibly damaging	0.56
R8158:Qrich1	UTSW	9	108,433,236 (GRCm39)	missense	probably damaging	0.99
R8241:Qrich1	UTSW	9	108,433,760 (GRCm39)	critical splice donor site	probably null
R8875:Qrich1	UTSW	9	108,436,502 (GRCm39)	unclassified	probably benign
R9532:Qrich1	UTSW	9	108,411,519 (GRCm39)	missense	probably benign	0.36
R9795:Qrich1	UTSW	9	108,411,089 (GRCm39)	missense	probably benign	0.18
Z1177:Qrich1	UTSW	9	108,411,668 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGAGCATTACGCACATTGCC -3'
(R):5'- CTCAGTAGGTTACACTGGAACCAAAGG -3'

Sequencing Primer
(F):5'- CTACAATGCGGTTCATGTCAG -3'
(R):5'- CTGGAACCAAAGGAAGCAAAAC -3'

Posted On

2013-07-11