Mutagenetix > Incidental Mutation

Incidental Mutation 'R2054:Qrich1'

226528

Institutional Source

Beutler Lab

Gene Symbol

Qrich1

Ensembl Gene

ENSMUSG00000006673

Gene Name

glutamine-rich 1

Synonyms

2610028H07Rik, b2b2404Clo

MMRRC Submission

040059-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108394010-108437366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108436469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 722 (N722K)

Ref Sequence

ENSEMBL: ENSMUSP00000107782 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006851
AA Change: N722K

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: N722K

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 benign
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

possibly damaging
Transcript: ENSMUST00000112155
AA Change: N722K

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: N722K

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 benign
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

noncoding transcript
Transcript: ENSMUST00000195456

Predicted Effect

probably benign
Transcript: ENSMUST00000194904

SMART Domains

Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

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

Meta Mutation Damage Score

0.2227

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,562 (GRCm39)	C94S	possibly damaging	Het
A930011G23Rik	T	C	5: 99,375,914 (GRCm39)	Y432C	probably benign	Het
Abtb2	A	G	2: 103,535,462 (GRCm39)	D543G	probably benign	Het
Adam9	A	T	8: 25,481,310 (GRCm39)	V318E	probably damaging	Het
Aim2	T	C	1: 173,291,548 (GRCm39)	F318L	probably damaging	Het
Apob	A	T	12: 8,063,134 (GRCm39)	D3872V	probably damaging	Het
Atat1	T	A	17: 36,212,261 (GRCm39)	R323W	probably null	Het
Atp2b4	T	C	1: 133,642,907 (GRCm39)	D1066G	probably benign	Het
Bltp1	A	G	3: 37,002,002 (GRCm39)	T1316A	probably benign	Het
Caskin2	T	C	11: 115,697,127 (GRCm39)		probably benign	Het
Cblif	G	A	19: 11,736,370 (GRCm39)	V314I	probably benign	Het
Ccdc54	T	A	16: 50,410,987 (GRCm39)	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,491,128 (GRCm39)	D159E	possibly damaging	Het
Cnot1	A	C	8: 96,466,469 (GRCm39)	S1589R	possibly damaging	Het
Copa	T	A	1: 171,946,524 (GRCm39)	Y980*	probably null	Het
Defb19	A	G	2: 152,418,090 (GRCm39)	I82T	possibly damaging	Het
Elapor2	C	A	5: 9,513,030 (GRCm39)	T1008K	possibly damaging	Het
Fiz1	G	A	7: 5,011,235 (GRCm39)	R428C	probably damaging	Het
Fnip2	A	T	3: 79,479,772 (GRCm39)		probably benign	Het
Gabrb3	G	A	7: 57,474,241 (GRCm39)	G408S	probably benign	Het
Hao1	C	T	2: 134,340,178 (GRCm39)		silent	Het
Hecw1	T	A	13: 14,471,998 (GRCm39)	M557L	probably damaging	Het
Itch	A	T	2: 155,052,496 (GRCm39)	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,734,671 (GRCm39)		probably benign	Het
Leng8	T	G	7: 4,147,289 (GRCm39)	Y562*	probably null	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1b	A	T	2: 40,587,494 (GRCm39)	N151K	unknown	Het
Lrrc71	T	C	3: 87,649,980 (GRCm39)	E316G	probably damaging	Het
Mgat5	A	G	1: 127,325,344 (GRCm39)	N404D	probably damaging	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Mtor	A	G	4: 148,547,309 (GRCm39)	T431A	probably benign	Het
Mtor	T	A	4: 148,550,482 (GRCm39)	C713S	probably benign	Het
Mug2	A	G	6: 122,054,451 (GRCm39)	K1077E	probably damaging	Het
Nbas	A	G	12: 13,524,207 (GRCm39)	T1688A	probably benign	Het
Nek2	T	C	1: 191,553,764 (GRCm39)	S3P	possibly damaging	Het
Nell2	T	C	15: 95,332,990 (GRCm39)	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560 (GRCm39)	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846 (GRCm39)	I453K	probably damaging	Het
Pcnx1	A	G	12: 81,980,448 (GRCm39)	H865R	probably benign	Het
Pex1	T	C	5: 3,653,341 (GRCm39)	V80A	possibly damaging	Het
Phka2	T	A	X: 159,337,323 (GRCm39)	D424E	probably damaging	Het
Pkd1	C	T	17: 24,793,770 (GRCm39)	T1819I	probably benign	Het
Poglut1	T	C	16: 38,355,169 (GRCm39)	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,631,130 (GRCm39)	I500V	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pygm	C	G	19: 6,438,185 (GRCm39)	N163K	probably benign	Het
Reep6	T	A	10: 80,166,156 (GRCm39)	C104*	probably null	Het
Rfx8	A	G	1: 39,724,719 (GRCm39)	V214A	possibly damaging	Het
Sis	G	A	3: 72,820,570 (GRCm39)	T1398I	probably benign	Het
Skint5	A	G	4: 113,676,360 (GRCm39)		probably null	Het
Slc7a14	A	G	3: 31,291,511 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,948 (GRCm39)	M646K	probably benign	Het
Snx29	A	G	16: 11,449,356 (GRCm39)	N165S	probably damaging	Het
Supt6	T	A	11: 78,115,187 (GRCm39)		probably benign	Het
Tead4	G	T	6: 128,247,925 (GRCm39)	S37R	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tex56	T	A	13: 35,108,574 (GRCm39)	Y19N	probably damaging	Het
Tff2	T	C	17: 31,362,199 (GRCm39)	K40E	probably benign	Het
Traip	C	T	9: 107,840,118 (GRCm39)	T265M	probably benign	Het
Trim47	T	C	11: 115,999,109 (GRCm39)	T256A	probably benign	Het
Trpm1	A	G	7: 63,890,303 (GRCm39)	M853V	possibly damaging	Het
Tti1	G	T	2: 157,849,365 (GRCm39)	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,377,128 (GRCm39)	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,600,352 (GRCm39)	M550T	probably damaging	Het
Zfp512	T	A	5: 31,622,793 (GRCm39)	N31K	probably benign	Het
Zfp64	A	G	2: 168,767,728 (GRCm39)	V628A	probably 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
R0586:Qrich1	UTSW	9	108,411,719 (GRCm39)	missense	probably damaging	0.98
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
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'- AGAGAAGGTGGTTATTGGCC -3'
(R):5'- TTTCCTATAGCTGAGGCACCTC -3'

Sequencing Primer
(F):5'- GGCCTTTGCTGCTGAGTTAAAAAC -3'
(R):5'- CACCTCAGTGCATGGTGG -3'

Posted On

2014-09-17