Incidental Mutation 'R5718:Qrich1'
| ID |
451292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich1
|
| Ensembl Gene |
ENSMUSG00000006673 |
| Gene Name |
glutamine-rich 1 |
| Synonyms |
2610028H07Rik, b2b2404Clo |
| MMRRC Submission |
043338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R5718 (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 A
at 108406022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 72
(S72T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006851]
[ENSMUST00000112155]
[ENSMUST00000192819]
[ENSMUST00000192932]
[ENSMUST00000193258]
[ENSMUST00000193348]
[ENSMUST00000194741]
[ENSMUST00000194385]
[ENSMUST00000195513]
[ENSMUST00000195563]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000006851
AA Change: S72T
|
| SMART Domains |
Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: S72T
| 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 |
unknown
Transcript: ENSMUST00000112155
AA Change: S72T
|
| SMART Domains |
Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: S72T
| 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 damaging
Transcript: ENSMUST00000192819
AA Change: S72T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142027
Gene: ENSMUSG00000006673
AA Change: S72T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
7 |
48 |
1e-3 |
SMART |
|
low complexity region
|
85 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192932
AA Change: S72T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141215
Gene: ENSMUSG00000006673
AA Change: S72T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
7 |
48 |
3e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193127
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193258
AA Change: S72T
|
| SMART Domains |
Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673
AA Change: S72T
| 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 damaging
Transcript: ENSMUST00000193348
AA Change: S72T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141691
Gene: ENSMUSG00000006673
AA Change: S72T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
7 |
48 |
1e-3 |
SMART |
|
low complexity region
|
80 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000194741
AA Change: S72T
|
| SMART Domains |
Protein: ENSMUSP00000142233
Gene: ENSMUSG00000006673
AA Change: S72T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
7 |
48 |
4e-3 |
SMART |
|
low complexity region
|
80 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194385
AA Change: S72T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142211
Gene: ENSMUSG00000006673
AA Change: S72T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1cy5a_
|
9 |
45 |
8e-3 |
SMART |
|
low complexity region
|
79 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194743
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195513
AA Change: S72T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142025
Gene: ENSMUSG00000006673
AA Change: S72T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
7 |
48 |
3e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195563
AA Change: S72T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141716
Gene: ENSMUSG00000006673
AA Change: S72T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
T |
C |
8: 27,603,514 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
G |
T |
1: 179,596,904 (GRCm39) |
H81N |
possibly damaging |
Het |
| Alyref2 |
T |
C |
1: 171,331,678 (GRCm39) |
S152P |
possibly damaging |
Het |
| Arhgef7 |
C |
T |
8: 11,835,774 (GRCm39) |
T20I |
probably damaging |
Het |
| Armc3 |
T |
G |
2: 19,308,610 (GRCm39) |
Y759* |
probably null |
Het |
| Atg5 |
A |
G |
10: 44,238,983 (GRCm39) |
S255G |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,665 (GRCm39) |
I1026V |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,107,009 (GRCm39) |
K770N |
probably damaging |
Het |
| Bptf |
G |
T |
11: 107,002,260 (GRCm39) |
A284E |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,300,674 (GRCm39) |
S815P |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,389 (GRCm39) |
H67R |
probably benign |
Het |
| Cic |
A |
G |
7: 24,972,203 (GRCm39) |
I645V |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,207,246 (GRCm39) |
Q48L |
probably benign |
Het |
| Crhr2 |
G |
A |
6: 55,069,085 (GRCm39) |
Q397* |
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 57,925,508 (GRCm39) |
V48I |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,404,955 (GRCm39) |
R2529H |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,787,826 (GRCm39) |
H3293L |
possibly damaging |
Het |
| Dock6 |
G |
T |
9: 21,735,789 (GRCm39) |
D986E |
probably benign |
Het |
| Efcab6 |
T |
A |
15: 83,788,439 (GRCm39) |
N952Y |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,029,618 (GRCm39) |
C1327Y |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,520,636 (GRCm39) |
E241G |
probably benign |
Het |
| Fsd1 |
T |
G |
17: 56,297,542 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,552 (GRCm39) |
S339P |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,088,172 (GRCm39) |
K829* |
probably null |
Het |
| Gli3 |
G |
A |
13: 15,652,750 (GRCm39) |
|
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,566,351 (GRCm39) |
C2217* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,485,417 (GRCm39) |
I4395N |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,273,909 (GRCm39) |
M861T |
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,412,621 (GRCm39) |
S1545P |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 72,136,998 (GRCm39) |
L725M |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,375,931 (GRCm39) |
C90* |
probably null |
Het |
| Mcm7 |
C |
T |
5: 138,163,081 (GRCm39) |
R357H |
possibly damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,581 (GRCm39) |
S333P |
probably damaging |
Het |
| Mrpl22 |
A |
T |
11: 58,068,109 (GRCm39) |
I136L |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,386,702 (GRCm39) |
|
probably null |
Het |
| Ncdn |
G |
A |
4: 126,643,743 (GRCm39) |
Q360* |
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,771,403 (GRCm39) |
K338E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,927,634 (GRCm39) |
T6105A |
probably damaging |
Het |
| Or2aj6 |
G |
A |
16: 19,443,139 (GRCm39) |
S237F |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,338 (GRCm39) |
L226H |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,613,968 (GRCm39) |
F638I |
possibly damaging |
Het |
| Pfn3 |
T |
C |
13: 55,562,853 (GRCm39) |
I43V |
probably benign |
Het |
| Pigm |
C |
A |
1: 172,205,012 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
A |
15: 44,408,813 (GRCm39) |
S2433R |
probably damaging |
Het |
| Pomt1 |
C |
A |
2: 32,138,704 (GRCm39) |
A440D |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,288,613 (GRCm39) |
D691G |
probably benign |
Het |
| Ralgapa2 |
T |
A |
2: 146,295,326 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
C |
15: 102,149,502 (GRCm39) |
S156A |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,783,954 (GRCm39) |
K133R |
probably benign |
Het |
| Rcor1 |
A |
G |
12: 111,068,069 (GRCm39) |
D158G |
probably benign |
Het |
| Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,217,987 (GRCm39) |
H450L |
probably damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,764,941 (GRCm39) |
I263V |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,960,957 (GRCm39) |
V242E |
probably benign |
Het |
| Slc5a5 |
T |
A |
8: 71,340,399 (GRCm39) |
T484S |
probably benign |
Het |
| Tdrd3 |
T |
C |
14: 87,743,876 (GRCm39) |
V608A |
probably benign |
Het |
| Thnsl1 |
C |
A |
2: 21,216,811 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,032,649 (GRCm39) |
H586Q |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,169,103 (GRCm39) |
A676T |
possibly damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xbp1 |
T |
A |
11: 5,471,903 (GRCm39) |
F10I |
probably benign |
Het |
| Zbtb1 |
G |
A |
12: 76,433,698 (GRCm39) |
M561I |
probably benign |
Het |
| Zfp708 |
T |
C |
13: 67,218,522 (GRCm39) |
K446E |
probably benign |
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 |
|
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 |
|
|
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'- ACCCTAAGGACTCTGCAATATG -3'
(R):5'- AGGTGTGTTGTAGCTATCCTAAAC -3'
Sequencing Primer
(F):5'- CCATCTCATTTGAAGAGTACATCCG -3'
(R):5'- GTTGTAGCTATCCTAAACTGTGAGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation