Incidental Mutation 'PIT4418001:Itprid1'
| ID |
555579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4418001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 55945330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 684
(S684A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044729
AA Change: S684A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: S684A
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
T |
C |
6: 88,816,630 (GRCm39) |
Y100C |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,161,961 (GRCm39) |
Y365H |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,074,587 (GRCm39) |
I1049F |
probably benign |
Het |
| Atg9b |
A |
T |
5: 24,590,513 (GRCm39) |
S859T |
possibly damaging |
Het |
| Banp |
G |
A |
8: 122,732,365 (GRCm39) |
A380T |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,631,384 (GRCm39) |
E1155G |
|
Het |
| Capn12 |
T |
C |
7: 28,585,961 (GRCm39) |
S270P |
probably benign |
Het |
| Cbs |
A |
T |
17: 31,834,495 (GRCm39) |
I498N |
possibly damaging |
Het |
| Cep68 |
T |
C |
11: 20,189,731 (GRCm39) |
K427R |
probably benign |
Het |
| Cobl |
G |
A |
11: 12,206,240 (GRCm39) |
T545I |
possibly damaging |
Het |
| Cr2 |
T |
A |
1: 194,839,760 (GRCm39) |
M556L |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,932,689 (GRCm39) |
S1068P |
probably benign |
Het |
| D2hgdh |
C |
T |
1: 93,766,590 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 139,008,999 (GRCm39) |
L159P |
|
Het |
| Dnajb4 |
A |
T |
3: 151,899,134 (GRCm39) |
F31I |
possibly damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,498,260 (GRCm39) |
F369S |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,273,429 (GRCm39) |
L493H |
possibly damaging |
Het |
| Efcab5 |
T |
A |
11: 77,022,877 (GRCm39) |
Q612L |
possibly damaging |
Het |
| Efr3b |
A |
T |
12: 4,030,490 (GRCm39) |
L407Q |
possibly damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,003,494 (GRCm39) |
Q1085L |
probably damaging |
Het |
| Ell |
T |
C |
8: 71,034,331 (GRCm39) |
V199A |
probably damaging |
Het |
| Elmod2 |
G |
T |
8: 84,048,171 (GRCm39) |
T97K |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,386,956 (GRCm39) |
E138G |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 140,001,697 (GRCm39) |
F383L |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,597,879 (GRCm39) |
T559S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,174,084 (GRCm39) |
V238A |
probably benign |
Het |
| Gm3476 |
T |
C |
14: 6,118,411 (GRCm38) |
I237M |
probably benign |
Het |
| Gm5160 |
A |
T |
18: 14,558,339 (GRCm39) |
I139F |
probably damaging |
Het |
| Gpr15 |
T |
C |
16: 58,538,313 (GRCm39) |
T259A |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,126,746 (GRCm39) |
K293E |
possibly damaging |
Het |
| Ikbip |
T |
A |
10: 90,932,395 (GRCm39) |
H346Q |
probably benign |
Het |
| Il4ra |
G |
A |
7: 125,175,510 (GRCm39) |
G573S |
probably benign |
Het |
| Ing2 |
A |
T |
8: 48,122,125 (GRCm39) |
M141K |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,664,414 (GRCm39) |
S517P |
probably benign |
Het |
| Kcnab1 |
A |
G |
3: 65,265,741 (GRCm39) |
E295G |
probably benign |
Het |
| Klhl21 |
A |
C |
4: 152,099,835 (GRCm39) |
Y515S |
possibly damaging |
Het |
| Lcn9 |
A |
T |
2: 25,714,553 (GRCm39) |
Y139F |
probably damaging |
Het |
| Mcemp1 |
G |
T |
8: 3,717,052 (GRCm39) |
L64F |
probably null |
Het |
| Mos |
T |
C |
4: 3,870,814 (GRCm39) |
D334G |
possibly damaging |
Het |
| Myo9b |
T |
G |
8: 71,775,591 (GRCm39) |
F338V |
probably damaging |
Het |
| Nefl |
G |
A |
14: 68,323,979 (GRCm39) |
V406M |
probably damaging |
Het |
| Nfam1 |
C |
A |
15: 82,885,689 (GRCm39) |
R181L |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,335,925 (GRCm39) |
R119G |
probably damaging |
Het |
| Or12e10 |
G |
T |
2: 87,640,938 (GRCm39) |
C258F |
probably damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
| Or7a40 |
T |
C |
16: 16,491,719 (GRCm39) |
N42S |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,073,960 (GRCm39) |
V914E |
probably damaging |
Het |
| Ppp1r12c |
T |
C |
7: 4,504,266 (GRCm39) |
Q111R |
probably null |
Het |
| Ptchd3 |
T |
A |
11: 121,732,566 (GRCm39) |
Y485* |
probably null |
Het |
| Ptchd4 |
T |
A |
17: 42,813,980 (GRCm39) |
I627N |
probably damaging |
Het |
| Retnlb |
T |
C |
16: 48,637,631 (GRCm39) |
V19A |
probably benign |
Het |
| Rimbp2 |
T |
A |
5: 128,857,425 (GRCm39) |
T809S |
probably benign |
Het |
| Sema6c |
T |
A |
3: 95,077,401 (GRCm39) |
D404E |
possibly damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,479,821 (GRCm39) |
A631V |
unknown |
Het |
| Snai3 |
A |
T |
8: 123,183,073 (GRCm39) |
H157Q |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,173,961 (GRCm39) |
Y52C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,535,504 (GRCm39) |
E68G |
probably benign |
Het |
| Sun1 |
T |
A |
5: 139,212,343 (GRCm39) |
D155E |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,474,183 (GRCm39) |
D627G |
probably benign |
Het |
| Tas2r108 |
T |
A |
6: 40,470,614 (GRCm39) |
I30K |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,090,571 (GRCm39) |
V639A |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,424,299 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,597,554 (GRCm39) |
N19786K |
probably damaging |
Het |
| Vmn1r79 |
T |
G |
7: 11,910,766 (GRCm39) |
V216G |
probably damaging |
Het |
| Wdr64 |
C |
A |
1: 175,571,160 (GRCm39) |
Y331* |
probably null |
Het |
| Zfyve28 |
A |
T |
5: 34,390,721 (GRCm39) |
V180E |
probably damaging |
Het |
| Zic4 |
C |
T |
9: 91,261,447 (GRCm39) |
T234I |
possibly 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 |
|
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 |
|
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'- AAGTCTGCCCTGATACCAAGC -3'
(R):5'- ATGAAGTCATTATGTGATGGCCTG -3'
Sequencing Primer
(F):5'- AGCAAAGCTCACTGGTGC -3'
(R):5'- ATGGCCTGAGCTTGCATTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation