Incidental Mutation 'R0357:Itprid1'
| ID |
29876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
038563-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55945019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 580
(M580K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044729
AA Change: M580K
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: M580K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,778,463 (GRCm39) |
K232E |
probably benign |
Het |
| AI837181 |
C |
T |
19: 5,476,731 (GRCm39) |
T298I |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,362 (GRCm39) |
Y614C |
probably damaging |
Het |
| Amn |
A |
T |
12: 111,240,575 (GRCm39) |
|
probably null |
Het |
| Ankrd33b |
A |
G |
15: 31,305,272 (GRCm39) |
S121P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,131,675 (GRCm39) |
Y1028C |
probably damaging |
Het |
| Asph |
C |
A |
4: 9,453,314 (GRCm39) |
R736L |
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,861,757 (GRCm39) |
|
probably null |
Het |
| Cables2 |
T |
C |
2: 179,904,025 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,414,326 (GRCm39) |
Y360N |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,489,133 (GRCm39) |
S282P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,064 (GRCm39) |
|
probably benign |
Het |
| Ctso |
A |
T |
3: 81,858,850 (GRCm39) |
|
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,151,625 (GRCm39) |
Y125* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,877,372 (GRCm39) |
L537* |
probably null |
Het |
| Ddit4l |
G |
A |
3: 137,331,946 (GRCm39) |
R104Q |
probably benign |
Het |
| Def6 |
C |
T |
17: 28,442,909 (GRCm39) |
H322Y |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,554,866 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,165,342 (GRCm39) |
N588D |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,146,950 (GRCm39) |
I320F |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,536,934 (GRCm39) |
H319R |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,979 (GRCm39) |
E285G |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,945,376 (GRCm39) |
G1423E |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,409,839 (GRCm39) |
P480S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,762 (GRCm39) |
A126T |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,211,172 (GRCm39) |
D301N |
probably benign |
Het |
| Gm10360 |
T |
C |
6: 70,401,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6471 |
T |
A |
7: 142,387,604 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
A |
13: 50,056,149 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc18 |
A |
C |
3: 96,177,104 (GRCm39) |
K13Q |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,415,244 (GRCm39) |
S1322P |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Insrr |
A |
C |
3: 87,715,953 (GRCm39) |
|
probably null |
Het |
| Krt87 |
C |
T |
15: 101,384,900 (GRCm39) |
V399M |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,351,776 (GRCm39) |
N3708S |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,699 (GRCm39) |
V222E |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,488,677 (GRCm39) |
S27P |
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,574 (GRCm39) |
M9K |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,563 (GRCm39) |
S384R |
possibly damaging |
Het |
| Myo1a |
T |
A |
10: 127,546,771 (GRCm39) |
M306K |
probably benign |
Het |
| Noxa1 |
G |
T |
2: 24,975,862 (GRCm39) |
D403E |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or10ak12 |
A |
C |
4: 118,666,614 (GRCm39) |
L149R |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,613 (GRCm39) |
N155S |
probably damaging |
Het |
| Or6k4 |
T |
A |
1: 173,964,865 (GRCm39) |
L185* |
probably null |
Het |
| Or6n1 |
T |
C |
1: 173,916,675 (GRCm39) |
V23A |
possibly damaging |
Het |
| Paxip1 |
G |
A |
5: 27,963,621 (GRCm39) |
|
probably benign |
Het |
| Paxx |
T |
A |
2: 25,350,079 (GRCm39) |
E145D |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,802 (GRCm39) |
V560A |
possibly damaging |
Het |
| Pheta2 |
C |
T |
15: 82,227,517 (GRCm39) |
A12V |
probably damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,946,421 (GRCm39) |
V847M |
probably benign |
Het |
| Polk |
T |
A |
13: 96,641,105 (GRCm39) |
M151L |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,060 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,771,785 (GRCm39) |
Q371R |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,155,820 (GRCm39) |
A2224V |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,266 (GRCm39) |
S169P |
possibly damaging |
Het |
| Scart1 |
T |
G |
7: 139,807,808 (GRCm39) |
C660G |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,035 (GRCm39) |
T362A |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,158,158 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
C |
2: 121,896,713 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
A |
6: 42,566,761 (GRCm39) |
Y776F |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,538,364 (GRCm39) |
V1548A |
probably damaging |
Het |
| Trpv2 |
C |
T |
11: 62,481,130 (GRCm39) |
P410S |
probably damaging |
Het |
| Ube2u |
G |
T |
4: 100,338,851 (GRCm39) |
E39* |
probably null |
Het |
| Ulbp3 |
A |
T |
10: 3,070,307 (GRCm39) |
|
noncoding transcript |
Het |
| Ulbp3 |
A |
G |
10: 3,075,788 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
C |
T |
3: 64,041,320 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
TCC |
TC |
6: 123,792,369 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
T |
7: 29,235,007 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp110 |
A |
G |
7: 12,570,302 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,272,245 (GRCm39) |
T55A |
probably benign |
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 |
|
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 |
|
R1737:Itprid1
|
UTSW |
6 |
55,945,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAGAGTCATAGTCCAGCATCACAGC -3'
(R):5'- GGCAGCATTTGAGTCAGTGGGAAC -3'
Sequencing Primer
(F):5'- GAGCATGACAAGCTCATCTTTG -3'
(R):5'- ACATGTCCAGGTGGCTTATCAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation