Incidental Mutation 'R5383:Itprid1'
| ID |
424840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
042958-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5383 (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 55955275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 961
(L961H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044729
AA Change: L961H
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: L961H
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
T |
17: 9,211,532 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Aadac |
T |
C |
3: 59,943,496 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
G |
A |
1: 156,469,802 (GRCm39) |
G918E |
possibly damaging |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,373 (GRCm39) |
V328A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,813,918 (GRCm39) |
I279V |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,501,994 (GRCm39) |
Y704F |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,511,360 (GRCm39) |
D321G |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,767,236 (GRCm39) |
D1910V |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,864,479 (GRCm39) |
Q480R |
probably benign |
Het |
| Cdhr1 |
C |
T |
14: 36,810,964 (GRCm39) |
V266M |
possibly damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,192,755 (GRCm39) |
V414D |
possibly damaging |
Het |
| Ctdnep1 |
T |
A |
11: 69,875,222 (GRCm39) |
|
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,168,918 (GRCm39) |
M212V |
possibly damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,041,397 (GRCm39) |
S273N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,163 (GRCm39) |
S250P |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,095,409 (GRCm39) |
T486A |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,862,196 (GRCm39) |
T523A |
probably damaging |
Het |
| Dmbx1 |
A |
G |
4: 115,775,342 (GRCm39) |
S313P |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,049,432 (GRCm39) |
E1664G |
probably damaging |
Het |
| Dpysl3 |
A |
T |
18: 43,571,103 (GRCm39) |
V57E |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,576 (GRCm39) |
G390E |
unknown |
Het |
| Hook3 |
C |
A |
8: 26,609,017 (GRCm39) |
R9L |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,063,989 (GRCm39) |
D298G |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,566,579 (GRCm39) |
V48D |
probably damaging |
Het |
| Kcnh1 |
G |
A |
1: 192,187,999 (GRCm39) |
G820D |
probably benign |
Het |
| Lsm14a |
C |
T |
7: 34,088,789 (GRCm39) |
A39T |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,307,456 (GRCm39) |
C804R |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,335 (GRCm39) |
V25M |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,509 (GRCm39) |
L198* |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,421,457 (GRCm39) |
M1V |
probably null |
Het |
| Or5b122 |
T |
A |
19: 13,563,439 (GRCm39) |
M257K |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,231 (GRCm39) |
D857G |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,627,468 (GRCm39) |
H856Q |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,793,349 (GRCm39) |
C1679R |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,140,617 (GRCm39) |
L441* |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,427 (GRCm39) |
F284L |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,539,969 (GRCm39) |
K769M |
probably damaging |
Het |
| Rbm12 |
G |
T |
2: 155,945,285 (GRCm39) |
|
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,225,146 (GRCm39) |
D94G |
possibly damaging |
Het |
| Scap |
G |
T |
9: 110,203,597 (GRCm39) |
K310N |
probably damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,698 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
TC |
TCC |
1: 85,519,290 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
A |
10: 75,082,539 (GRCm39) |
I662N |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,901,340 (GRCm39) |
V1496D |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,609,319 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,912,815 (GRCm39) |
I515T |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,718,227 (GRCm39) |
Q203* |
probably null |
Het |
| Tfap2b |
A |
T |
1: 19,296,722 (GRCm39) |
M222L |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,450,872 (GRCm39) |
A2T |
probably benign |
Het |
| Trav9-1 |
T |
A |
14: 53,725,833 (GRCm39) |
I49N |
probably benign |
Het |
| Trim23 |
T |
G |
13: 104,335,205 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,778,342 (GRCm39) |
T567A |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,070,886 (GRCm39) |
N1081S |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,852,887 (GRCm39) |
I9R |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,323,681 (GRCm39) |
M92K |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,013,729 (GRCm39) |
G198D |
probably benign |
Het |
| Zfp637 |
G |
T |
6: 117,820,270 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
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'- ATGTCACCATGGCCCCTATC -3'
(R):5'- GCTCTTGGACATTGCATTTTGTAC -3'
Sequencing Primer
(F):5'- ACCATGGCCCCTATCTTCCTG -3'
(R):5'- GATCATCAAACCCACTTTGGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation