Incidental Mutation 'R1478:Qrich1'
| ID |
165636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich1
|
| Ensembl Gene |
ENSMUSG00000006673 |
| Gene Name |
glutamine-rich 1 |
| Synonyms |
2610028H07Rik, b2b2404Clo |
| MMRRC Submission |
039531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R1478 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108394010-108437366 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108436531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 743
(V743A)
|
| 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 |
probably benign
Transcript: ENSMUST00000006851
AA Change: V743A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: V743A
| 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 |
probably benign
Transcript: ENSMUST00000112155
AA Change: V743A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: V743A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,580,287 (GRCm39) |
I204N |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,263,453 (GRCm39) |
T2025A |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,103,938 (GRCm39) |
R170C |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,799,271 (GRCm39) |
|
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,737,955 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,745,012 (GRCm39) |
T50A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,908,677 (GRCm39) |
D19G |
probably damaging |
Het |
| Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,767 (GRCm39) |
V494A |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,959,769 (GRCm39) |
F663L |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,270,065 (GRCm39) |
E319V |
probably damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,460,295 (GRCm39) |
V679A |
probably damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Cyp3a11 |
G |
T |
5: 145,795,581 (GRCm39) |
L457I |
probably benign |
Het |
| Dera |
T |
A |
6: 137,807,193 (GRCm39) |
S214T |
possibly damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,171,404 (GRCm39) |
V501A |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,671 (GRCm39) |
V114A |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,592,110 (GRCm39) |
V722M |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,365,114 (GRCm39) |
N499S |
probably damaging |
Het |
| Ecd |
A |
T |
14: 20,396,725 (GRCm39) |
Y53* |
probably null |
Het |
| Esyt3 |
T |
C |
9: 99,200,119 (GRCm39) |
T692A |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,659 (GRCm39) |
N2545K |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,795,072 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
A |
G |
6: 28,430,567 (GRCm39) |
M246V |
probably benign |
Het |
| Gde1 |
G |
T |
7: 118,291,007 (GRCm39) |
T106K |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,434 (GRCm39) |
I16T |
possibly damaging |
Het |
| Hacd4 |
A |
T |
4: 88,341,260 (GRCm39) |
M168K |
probably damaging |
Het |
| Hmx3 |
A |
G |
7: 131,145,826 (GRCm39) |
E178G |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,961,171 (GRCm39) |
Y266C |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,039 (GRCm39) |
L170Q |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,451,359 (GRCm39) |
R990S |
probably damaging |
Het |
| Krtap22-2 |
A |
T |
16: 88,807,534 (GRCm39) |
Y21* |
probably null |
Het |
| Lrrc41 |
T |
A |
4: 115,952,405 (GRCm39) |
L661* |
probably null |
Het |
| Lrrc63 |
T |
C |
14: 75,363,424 (GRCm39) |
T236A |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,272,892 (GRCm39) |
L84P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,551 (GRCm39) |
I754T |
probably benign |
Het |
| Neb |
A |
C |
2: 52,065,619 (GRCm39) |
D5961E |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,175,374 (GRCm39) |
H134R |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,117,673 (GRCm39) |
M542K |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,509,743 (GRCm39) |
|
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,045,963 (GRCm39) |
|
probably null |
Het |
| Or8g33 |
T |
A |
9: 39,337,888 (GRCm39) |
T160S |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,302,136 (GRCm39) |
|
probably null |
Het |
| Ppp6r1 |
A |
T |
7: 4,643,377 (GRCm39) |
|
probably null |
Het |
| Prss33 |
A |
G |
17: 24,054,072 (GRCm39) |
W45R |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,069,302 (GRCm39) |
Y980* |
probably null |
Het |
| Rev3l |
G |
A |
10: 39,659,329 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,376,369 (GRCm39) |
N297K |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,813,527 (GRCm39) |
H528R |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,863 (GRCm39) |
V241A |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,276,581 (GRCm39) |
V577E |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,876 (GRCm39) |
S507P |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,117,969 (GRCm39) |
|
probably null |
Het |
| Susd5 |
T |
C |
9: 113,925,752 (GRCm39) |
F545S |
probably benign |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,775,764 (GRCm39) |
T107A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,094,953 (GRCm39) |
I41F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,682,417 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,878 (GRCm39) |
D78A |
probably damaging |
Het |
| Xpc |
C |
T |
6: 91,485,510 (GRCm39) |
D122N |
possibly damaging |
Het |
| Xpo1 |
C |
T |
11: 23,241,623 (GRCm39) |
A890V |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,934,680 (GRCm39) |
H211R |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,679,190 (GRCm39) |
H405L |
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 |
|
|
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'- AGCTGGAGCTAGGTCTTCTAGATGC -3'
(R):5'- ATTCCGAGTGACAGGCTGATGC -3'
Sequencing Primer
(F):5'- AGATGCTTATCTGCTGCCAATG -3'
(R):5'- ATCCCTATGAACCAGGGGTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation