Incidental Mutation 'R7403:Itprid1'
| ID |
574339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
045485-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 55953399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 905
(L905*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044729
AA Change: L905*
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: L905*
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
G |
A |
10: 83,450,059 (GRCm39) |
A271V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,040,330 (GRCm39) |
T917I |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,537,752 (GRCm39) |
Q143* |
probably null |
Het |
| Cd3e |
C |
A |
9: 44,913,590 (GRCm39) |
E48D |
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,529,259 (GRCm39) |
L805P |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,817,820 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ddx43 |
T |
G |
9: 78,321,133 (GRCm39) |
N380K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,295,285 (GRCm39) |
V155E |
probably damaging |
Het |
| Eif1ad19 |
G |
T |
12: 87,740,314 (GRCm39) |
Q82K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,778,994 (GRCm39) |
C608S |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,959,627 (GRCm39) |
N161S |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,060,475 (GRCm39) |
I276T |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,342,774 (GRCm39) |
L1689P |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,761,401 (GRCm39) |
K210R |
probably benign |
Het |
| Gna14 |
G |
T |
19: 16,576,445 (GRCm39) |
D151Y |
|
Het |
| Hdhd2 |
A |
G |
18: 77,042,736 (GRCm39) |
D55G |
probably benign |
Het |
| Hycc2 |
A |
T |
1: 58,587,861 (GRCm39) |
D117E |
possibly damaging |
Het |
| Ifna5 |
A |
G |
4: 88,754,110 (GRCm39) |
N117D |
probably benign |
Het |
| Il16 |
T |
A |
7: 83,319,343 (GRCm39) |
T383S |
probably damaging |
Het |
| Il36rn |
T |
C |
2: 24,171,214 (GRCm39) |
F101L |
probably damaging |
Het |
| Ino80d |
A |
G |
1: 63,101,378 (GRCm39) |
V416A |
possibly damaging |
Het |
| Ints6 |
T |
C |
14: 62,945,104 (GRCm39) |
R409G |
possibly damaging |
Het |
| Itgb5 |
G |
T |
16: 33,723,163 (GRCm39) |
|
probably null |
Het |
| Kcnq3 |
T |
A |
15: 65,874,066 (GRCm39) |
R561W |
probably damaging |
Het |
| Lipo4 |
C |
T |
19: 33,480,679 (GRCm39) |
E230K |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 157,854,311 (GRCm39) |
L1299* |
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,318,657 (GRCm39) |
|
probably null |
Het |
| Mok |
A |
T |
12: 110,781,563 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
A |
2: 152,759,261 (GRCm39) |
V344E |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,870,966 (GRCm39) |
V389A |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
| Or1j8 |
T |
C |
2: 36,192,342 (GRCm39) |
F264L |
probably benign |
Het |
| Or8s5 |
T |
C |
15: 98,238,000 (GRCm39) |
Y290C |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,527,430 (GRCm39) |
N124D |
probably benign |
Het |
| Parp3 |
T |
C |
9: 106,352,052 (GRCm39) |
S107G |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,624,950 (GRCm39) |
G760D |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,087,351 (GRCm39) |
W13* |
probably null |
Het |
| Poglut3 |
T |
A |
9: 53,301,741 (GRCm39) |
V131E |
probably damaging |
Het |
| Pou2f1 |
C |
T |
1: 165,738,955 (GRCm39) |
A166T |
unknown |
Het |
| Ppp1r10 |
C |
T |
17: 36,240,326 (GRCm39) |
P539S |
probably benign |
Het |
| Prdm11 |
T |
C |
2: 92,817,036 (GRCm39) |
T310A |
probably benign |
Het |
| Rbm25 |
A |
G |
12: 83,722,908 (GRCm39) |
Y777C |
probably damaging |
Het |
| Relt |
A |
T |
7: 100,500,655 (GRCm39) |
C72S |
probably damaging |
Het |
| Rhag |
T |
A |
17: 41,145,549 (GRCm39) |
I334N |
probably damaging |
Het |
| Rhbdf2 |
A |
C |
11: 116,491,245 (GRCm39) |
L630R |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,644,061 (GRCm39) |
S274P |
unknown |
Het |
| Rtkn2 |
A |
G |
10: 67,841,466 (GRCm39) |
I205V |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,713,292 (GRCm39) |
V4690E |
probably benign |
Het |
| Secisbp2l |
T |
C |
2: 125,602,199 (GRCm39) |
Y387C |
possibly damaging |
Het |
| Sema3d |
A |
T |
5: 12,547,551 (GRCm39) |
I158F |
probably damaging |
Het |
| Slc17a1 |
A |
G |
13: 24,058,690 (GRCm39) |
N48S |
probably benign |
Het |
| Slc2a1 |
G |
A |
4: 118,989,752 (GRCm39) |
G130S |
probably damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,710,546 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
T |
3: 94,436,233 (GRCm39) |
S261T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,846,691 (GRCm39) |
I72F |
possibly damaging |
Het |
| Spink6 |
T |
G |
18: 44,204,564 (GRCm39) |
L10R |
unknown |
Het |
| Swt1 |
G |
A |
1: 151,264,444 (GRCm39) |
T690I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,962,020 (GRCm39) |
E729K |
not run |
Het |
| Synj2 |
C |
T |
17: 6,088,005 (GRCm39) |
T1352M |
possibly damaging |
Het |
| Taar4 |
G |
A |
10: 23,836,957 (GRCm39) |
G189D |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,964,170 (GRCm39) |
N441D |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,378,640 (GRCm39) |
D248G |
probably benign |
Het |
| Tmem69 |
A |
T |
4: 116,410,664 (GRCm39) |
L102Q |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,464,548 (GRCm39) |
Y98C |
probably damaging |
Het |
| Tspan1 |
A |
G |
4: 116,020,219 (GRCm39) |
V230A |
probably benign |
Het |
| Upk3a |
T |
C |
15: 84,903,709 (GRCm39) |
V136A |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,365,924 (GRCm39) |
N2259K |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,264,232 (GRCm39) |
D1721G |
possibly damaging |
Het |
| Vldlr |
T |
A |
19: 27,213,674 (GRCm39) |
C120* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,538 (GRCm39) |
I149L |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,253,722 (GRCm39) |
E21V |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,062,685 (GRCm39) |
I635V |
probably damaging |
Het |
| Zfp955a |
T |
C |
17: 33,462,720 (GRCm39) |
D58G |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,155,403 (GRCm39) |
Q358R |
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 |
|
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 |
|
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'- GTGGTTATCCTTACCCAACTTGG -3'
(R):5'- GGTCAATCTCCAGATGTGACCAG -3'
Sequencing Primer
(F):5'- ATCCTTACCCAACTTGGTAACTTTC -3'
(R):5'- CTCCAGATGTGACCAGGTAATATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation