Incidental Mutation 'R8054:Itprid1'
| ID |
619251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
067491-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8054 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55953424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 913
(K913N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044729
AA Change: K913N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: K913N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,874,272 (GRCm39) |
N399S |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,088,707 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
A |
G |
5: 90,438,914 (GRCm39) |
I483T |
probably benign |
Het |
| Arl13b |
T |
C |
16: 62,626,960 (GRCm39) |
D247G |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,459,969 (GRCm39) |
I415V |
probably benign |
Het |
| Brpf3 |
C |
A |
17: 29,055,571 (GRCm39) |
S1173R |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,821,339 (GRCm39) |
Y129H |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,583,215 (GRCm39) |
L966P |
unknown |
Het |
| Cfap61 |
A |
G |
2: 145,815,438 (GRCm39) |
N249S |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,141,268 (GRCm39) |
Y541N |
possibly damaging |
Het |
| Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
| Cyp2c23 |
T |
G |
19: 43,995,555 (GRCm39) |
E404A |
probably damaging |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,871 (GRCm39) |
E281G |
possibly damaging |
Het |
| Cyp2r1 |
T |
A |
7: 114,151,319 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
T |
A |
2: 103,985,390 (GRCm39) |
I1226F |
possibly damaging |
Het |
| Dbx1 |
A |
T |
7: 49,282,498 (GRCm39) |
W236R |
probably damaging |
Het |
| Dcp2 |
T |
G |
18: 44,538,774 (GRCm39) |
N251K |
probably benign |
Het |
| Disp1 |
A |
T |
1: 182,869,812 (GRCm39) |
Y869* |
probably null |
Het |
| Dnajc8 |
T |
A |
4: 132,272,068 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,621,226 (GRCm39) |
N822D |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,592,243 (GRCm39) |
|
probably null |
Het |
| Eml3 |
A |
T |
19: 8,916,414 (GRCm39) |
T670S |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,187,938 (GRCm39) |
D1530E |
possibly damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,331 (GRCm39) |
Y331N |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,097,837 (GRCm39) |
R791G |
possibly damaging |
Het |
| Jade2 |
T |
C |
11: 51,709,441 (GRCm39) |
R523G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,741,806 (GRCm39) |
D4451E |
unknown |
Het |
| Lax1 |
T |
C |
1: 133,611,345 (GRCm39) |
T76A |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,689,181 (GRCm39) |
|
probably benign |
Het |
| Mcu |
G |
A |
10: 59,290,817 (GRCm39) |
T121M |
probably damaging |
Het |
| Mepce |
T |
A |
5: 137,783,004 (GRCm39) |
K441* |
probably null |
Het |
| Mettl21e |
C |
A |
1: 44,245,815 (GRCm39) |
V144F |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,231,748 (GRCm39) |
S1049C |
probably damaging |
Het |
| Myh14 |
C |
T |
7: 44,274,551 (GRCm39) |
V1246M |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,464,329 (GRCm39) |
Q1128L |
probably benign |
Het |
| Nat8f2 |
T |
C |
6: 85,844,754 (GRCm39) |
S203G |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,652 (GRCm39) |
T46A |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,675,956 (GRCm39) |
|
probably benign |
Het |
| Oplah |
C |
T |
15: 76,190,457 (GRCm39) |
R102H |
probably benign |
Het |
| Or1x6 |
T |
A |
11: 50,939,090 (GRCm39) |
I52N |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
| Or5g29 |
A |
T |
2: 85,421,184 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or6d13 |
A |
G |
6: 116,517,960 (GRCm39) |
H182R |
probably damaging |
Het |
| Or8g20 |
C |
A |
9: 39,396,033 (GRCm39) |
C172F |
probably damaging |
Het |
| Osgep |
C |
T |
14: 51,162,128 (GRCm39) |
|
probably benign |
Het |
| Pam |
A |
T |
1: 97,768,114 (GRCm39) |
D705E |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,373,008 (GRCm39) |
N1284K |
probably damaging |
Het |
| Plekhg2 |
A |
G |
7: 28,064,741 (GRCm39) |
F407S |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,274,113 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,720 (GRCm39) |
N37S |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,424,972 (GRCm39) |
D213V |
probably damaging |
Het |
| Skint11 |
A |
T |
4: 114,101,806 (GRCm39) |
Q273L |
possibly damaging |
Het |
| Skint7 |
A |
T |
4: 111,839,426 (GRCm39) |
H240L |
probably benign |
Het |
| Slc12a2 |
C |
T |
18: 58,054,944 (GRCm39) |
Q862* |
probably null |
Het |
| Smox |
A |
G |
2: 131,364,100 (GRCm39) |
S468G |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,257 (GRCm39) |
S50P |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,052,326 (GRCm39) |
S683T |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,220,970 (GRCm39) |
E3103G |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,378,553 (GRCm39) |
|
probably benign |
Het |
| Tent4b |
T |
A |
8: 88,974,186 (GRCm39) |
I294N |
probably damaging |
Het |
| Tmem123 |
T |
C |
9: 7,791,064 (GRCm39) |
S122P |
possibly damaging |
Het |
| Trav18 |
A |
T |
14: 54,068,572 (GRCm39) |
K4I |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,583,420 (GRCm39) |
S394G |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,195,413 (GRCm39) |
S1212C |
unknown |
Het |
| Usp34 |
G |
A |
11: 23,311,295 (GRCm39) |
R442Q |
|
Het |
| Usp43 |
G |
A |
11: 67,782,284 (GRCm39) |
P378L |
probably damaging |
Het |
| Vmn1r212 |
A |
G |
13: 23,067,935 (GRCm39) |
F133L |
probably benign |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,910 (GRCm39) |
I164M |
possibly damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,998 (GRCm39) |
P347S |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,355,000 (GRCm39) |
V1280E |
possibly damaging |
Het |
| Zfp317 |
T |
C |
9: 19,553,265 (GRCm39) |
S13P |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,032,618 (GRCm39) |
A441S |
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,816,248 (GRCm39) |
D232G |
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 |
|
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 |
|
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'- TGGTTATCCTTACCCAACTTGG -3'
(R):5'- GGTCAATCTCCAGATGTGACCAG -3'
Sequencing Primer
(F):5'- CATCTTGAGATAGGTAAATGTGGTAC -3'
(R):5'- CTCCAGATGTGACCAGGTAATATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation