Incidental Mutation 'R1737:Itprid1'
| ID |
199770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
039769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1737 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55945289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 670
(D670V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044729
AA Change: D670V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: D670V
| Domain | Start | End | E-Value | Type |
|---|
|
KRAP_IP3R_bind
|
112 |
264 |
2.99e-82 |
SMART |
|
low complexity region
|
326 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
Pfam:SSFA2_C
|
806 |
916 |
3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169699
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.4%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ak7 |
G |
A |
12: 105,708,591 (GRCm39) |
V349M |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,192,453 (GRCm39) |
E436V |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,450,075 (GRCm39) |
P2290T |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,476,986 (GRCm39) |
|
probably benign |
Het |
| Bahd1 |
T |
C |
2: 118,746,404 (GRCm39) |
S8P |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,862,677 (GRCm39) |
Y28H |
probably benign |
Het |
| Cdh10 |
A |
T |
15: 18,964,149 (GRCm39) |
I104F |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,703,061 (GRCm39) |
D508G |
possibly damaging |
Het |
| Ces2a |
G |
T |
8: 105,467,456 (GRCm39) |
A494S |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,624,553 (GRCm39) |
T123M |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,474,904 (GRCm39) |
S1102P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,610,733 (GRCm39) |
D224Y |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,208,357 (GRCm39) |
|
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,848 (GRCm39) |
T122S |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,857,000 (GRCm39) |
|
probably null |
Het |
| Eid2 |
T |
C |
7: 27,967,924 (GRCm39) |
V182A |
possibly damaging |
Het |
| Eloa |
A |
T |
4: 135,738,081 (GRCm39) |
V293D |
probably benign |
Het |
| Enkur |
G |
A |
2: 21,199,106 (GRCm39) |
P143S |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,510,548 (GRCm39) |
Y99H |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,596 (GRCm39) |
L66I |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,110,928 (GRCm39) |
R985S |
unknown |
Het |
| Fscb |
A |
T |
12: 64,521,355 (GRCm39) |
I37K |
possibly damaging |
Het |
| H2-M10.3 |
T |
C |
17: 36,679,296 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Q7 |
A |
C |
17: 35,658,602 (GRCm39) |
Y80S |
probably damaging |
Het |
| H60c |
A |
T |
10: 3,209,914 (GRCm39) |
D124E |
possibly damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,862 (GRCm39) |
V361E |
probably damaging |
Het |
| Ice1 |
A |
C |
13: 70,754,444 (GRCm39) |
C547W |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,635,303 (GRCm39) |
V171A |
probably damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Klk1b1 |
A |
T |
7: 43,619,783 (GRCm39) |
Q114L |
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,278,213 (GRCm39) |
M280T |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,109,916 (GRCm39) |
R2179Q |
probably benign |
Het |
| Mbd3l1 |
C |
T |
9: 18,396,225 (GRCm39) |
P117S |
possibly damaging |
Het |
| Med18 |
A |
T |
4: 132,187,420 (GRCm39) |
S71R |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,895,607 (GRCm39) |
I643N |
possibly damaging |
Het |
| Nfib |
T |
C |
4: 82,416,826 (GRCm39) |
K70E |
probably damaging |
Het |
| Nr3c2 |
A |
C |
8: 77,634,958 (GRCm39) |
S20R |
probably benign |
Het |
| Nr6a1 |
A |
T |
2: 38,628,955 (GRCm39) |
F356L |
probably benign |
Het |
| Oca2 |
G |
A |
7: 55,978,533 (GRCm39) |
R567H |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,045 (GRCm39) |
S91G |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,911 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or1p1 |
T |
C |
11: 74,179,637 (GRCm39) |
L55P |
probably damaging |
Het |
| Or6c88 |
T |
A |
10: 129,406,697 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,338,254 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,009 (GRCm39) |
T362A |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,374,404 (GRCm39) |
V59E |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,410,905 (GRCm39) |
|
probably null |
Het |
| Prr36 |
T |
C |
8: 4,264,370 (GRCm39) |
|
probably benign |
Het |
| Ptger2 |
A |
G |
14: 45,239,228 (GRCm39) |
T289A |
probably benign |
Het |
| Rad18 |
A |
G |
6: 112,658,498 (GRCm39) |
F136L |
probably damaging |
Het |
| Rhbg |
T |
A |
3: 88,153,181 (GRCm39) |
S258C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,739 (GRCm39) |
I34M |
possibly damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,162 (GRCm39) |
T135K |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,035,582 (GRCm39) |
I193M |
probably damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,023,504 (GRCm39) |
V47I |
probably benign |
Het |
| Slc9a5 |
G |
A |
8: 106,094,766 (GRCm39) |
V786M |
probably damaging |
Het |
| Smyd1 |
A |
G |
6: 71,193,875 (GRCm39) |
L350P |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,681 (GRCm39) |
F576I |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,924,598 (GRCm39) |
V496E |
probably benign |
Het |
| Tcl1b3 |
C |
A |
12: 105,157,481 (GRCm39) |
S41Y |
probably damaging |
Het |
| Tulp2 |
A |
T |
7: 45,169,201 (GRCm39) |
N256I |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,138,668 (GRCm39) |
C349S |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,070,604 (GRCm39) |
I730T |
probably damaging |
Het |
| Vmn1r61 |
A |
T |
7: 5,614,060 (GRCm39) |
F85I |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,710,403 (GRCm39) |
T709A |
probably benign |
Het |
| Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
probably damaging |
Het |
|
| Other mutations in Itprid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Itprid1
|
APN |
6 |
55,945,022 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01317:Itprid1
|
APN |
6 |
55,944,790 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01390:Itprid1
|
APN |
6 |
55,874,983 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01696:Itprid1
|
APN |
6 |
55,874,680 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01941:Itprid1
|
APN |
6 |
55,945,030 (GRCm39) |
missense |
probably benign |
|
|
IGL01967:Itprid1
|
APN |
6 |
55,874,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02071:Itprid1
|
APN |
6 |
55,944,710 (GRCm39) |
nonsense |
probably null |
|
|
IGL02232:Itprid1
|
APN |
6 |
55,944,922 (GRCm39) |
missense |
unknown |
|
|
IGL02268:Itprid1
|
APN |
6 |
55,861,673 (GRCm39) |
splice site |
probably benign |
|
|
IGL02440:Itprid1
|
APN |
6 |
55,861,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02614:Itprid1
|
APN |
6 |
55,945,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02626:Itprid1
|
APN |
6 |
55,945,631 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02674:Itprid1
|
APN |
6 |
55,874,913 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02836:Itprid1
|
APN |
6 |
55,875,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Itprid1
|
APN |
6 |
55,851,339 (GRCm39) |
splice site |
probably null |
|
|
IGL02889:Itprid1
|
APN |
6 |
55,878,443 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03103:Itprid1
|
APN |
6 |
55,945,144 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03117:Itprid1
|
APN |
6 |
55,875,114 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03343:Itprid1
|
APN |
6 |
55,945,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Itprid1
|
UTSW |
6 |
55,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Itprid1
|
UTSW |
6 |
55,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Itprid1
|
UTSW |
6 |
55,945,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Itprid1
|
UTSW |
6 |
55,849,457 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0200:Itprid1
|
UTSW |
6 |
55,874,941 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0245:Itprid1
|
UTSW |
6 |
55,874,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Itprid1
|
UTSW |
6 |
55,953,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Itprid1
|
UTSW |
6 |
55,875,228 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0357:Itprid1
|
UTSW |
6 |
55,945,019 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1109:Itprid1
|
UTSW |
6 |
55,945,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Itprid1
|
UTSW |
6 |
55,866,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Itprid1
|
UTSW |
6 |
55,866,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Itprid1
|
UTSW |
6 |
55,952,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Itprid1
|
UTSW |
6 |
55,952,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Itprid1
|
UTSW |
6 |
55,955,488 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1678:Itprid1
|
UTSW |
6 |
55,945,499 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1680:Itprid1
|
UTSW |
6 |
55,945,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Itprid1
|
UTSW |
6 |
55,945,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1729:Itprid1
|
UTSW |
6 |
55,945,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1771:Itprid1
|
UTSW |
6 |
55,875,132 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1784:Itprid1
|
UTSW |
6 |
55,945,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1936:Itprid1
|
UTSW |
6 |
55,874,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Itprid1
|
UTSW |
6 |
55,945,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2037:Itprid1
|
UTSW |
6 |
55,874,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2137:Itprid1
|
UTSW |
6 |
55,866,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2190:Itprid1
|
UTSW |
6 |
55,874,685 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2191:Itprid1
|
UTSW |
6 |
55,944,704 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2234:Itprid1
|
UTSW |
6 |
55,874,797 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2235:Itprid1
|
UTSW |
6 |
55,874,797 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3793:Itprid1
|
UTSW |
6 |
55,952,588 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3923:Itprid1
|
UTSW |
6 |
55,945,045 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3959:Itprid1
|
UTSW |
6 |
55,874,725 (GRCm39) |
missense |
probably benign |
|
|
R4332:Itprid1
|
UTSW |
6 |
55,945,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4485:Itprid1
|
UTSW |
6 |
55,864,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Itprid1
|
UTSW |
6 |
55,944,132 (GRCm39) |
splice site |
probably null |
|
|
R4916:Itprid1
|
UTSW |
6 |
55,955,175 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5201:Itprid1
|
UTSW |
6 |
55,944,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5383:Itprid1
|
UTSW |
6 |
55,955,275 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5450:Itprid1
|
UTSW |
6 |
55,945,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5542:Itprid1
|
UTSW |
6 |
55,955,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5819:Itprid1
|
UTSW |
6 |
55,874,876 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5935:Itprid1
|
UTSW |
6 |
55,874,754 (GRCm39) |
nonsense |
probably null |
|
|
R6034:Itprid1
|
UTSW |
6 |
55,944,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6034:Itprid1
|
UTSW |
6 |
55,944,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6209:Itprid1
|
UTSW |
6 |
55,851,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Itprid1
|
UTSW |
6 |
55,944,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Itprid1
|
UTSW |
6 |
55,945,663 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6490:Itprid1
|
UTSW |
6 |
55,953,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Itprid1
|
UTSW |
6 |
55,955,470 (GRCm39) |
missense |
probably benign |
|
|
R7148:Itprid1
|
UTSW |
6 |
55,874,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Itprid1
|
UTSW |
6 |
55,955,404 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7403:Itprid1
|
UTSW |
6 |
55,953,399 (GRCm39) |
nonsense |
probably null |
|
|
R7846:Itprid1
|
UTSW |
6 |
55,955,320 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7929:Itprid1
|
UTSW |
6 |
55,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Itprid1
|
UTSW |
6 |
55,953,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8438:Itprid1
|
UTSW |
6 |
55,874,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Itprid1
|
UTSW |
6 |
55,875,179 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8677:Itprid1
|
UTSW |
6 |
55,849,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9090:Itprid1
|
UTSW |
6 |
55,944,051 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9196:Itprid1
|
UTSW |
6 |
55,952,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Itprid1
|
UTSW |
6 |
55,944,051 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9344:Itprid1
|
UTSW |
6 |
55,955,470 (GRCm39) |
missense |
probably benign |
|
|
R9384:Itprid1
|
UTSW |
6 |
55,952,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Itprid1
|
UTSW |
6 |
55,944,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9711:Itprid1
|
UTSW |
6 |
55,864,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Itprid1
|
UTSW |
6 |
55,945,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGCAAAGTCTGCCCTGATACC -3'
(R):5'- TCTGCTTGTGAATACAGGGAATGCC -3'
Sequencing Primer
(F):5'- TCTGCCCTGATACCAAGCAAAG -3'
(R):5'- AGCCTGTTGCGGAGATAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation