Incidental Mutation 'R6209:Itprid1'
| ID |
503326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
044343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6209 (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 A
at 55851306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 62
(I62N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044729
AA Change: I62N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: I62N
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
A |
1: 38,232,670 (GRCm39) |
M990L |
probably benign |
Het |
| Agl |
A |
T |
3: 116,578,845 (GRCm39) |
Y429* |
probably null |
Het |
| Ahnak |
A |
T |
19: 8,989,930 (GRCm39) |
K3738M |
probably damaging |
Het |
| Amn |
G |
T |
12: 111,241,845 (GRCm39) |
V304L |
probably damaging |
Het |
| Ap3s1 |
G |
A |
18: 46,912,318 (GRCm39) |
V113I |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,065,917 (GRCm39) |
|
probably null |
Het |
| Atad2 |
A |
G |
15: 57,981,811 (GRCm39) |
S18P |
probably damaging |
Het |
| Bhmt1b |
C |
T |
18: 87,775,341 (GRCm39) |
A288V |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,960,061 (GRCm39) |
E305V |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,726,095 (GRCm39) |
S1401P |
possibly damaging |
Het |
| Cblc |
A |
T |
7: 19,519,230 (GRCm39) |
V366D |
possibly damaging |
Het |
| Cdk17 |
A |
T |
10: 93,044,093 (GRCm39) |
T11S |
probably benign |
Het |
| Cenpc1 |
A |
G |
5: 86,181,509 (GRCm39) |
S619P |
probably benign |
Het |
| Clec4d |
T |
G |
6: 123,247,488 (GRCm39) |
|
probably null |
Het |
| Disp2 |
T |
C |
2: 118,617,402 (GRCm39) |
L132P |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,165,677 (GRCm39) |
K528R |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gabbr2 |
A |
G |
4: 46,804,069 (GRCm39) |
V262A |
probably damaging |
Het |
| Galnt17 |
T |
A |
5: 131,110,434 (GRCm39) |
M302L |
probably benign |
Het |
| Gpn3 |
T |
C |
5: 122,520,175 (GRCm39) |
I243T |
probably benign |
Het |
| Gpr160 |
T |
C |
3: 30,950,141 (GRCm39) |
V71A |
possibly damaging |
Het |
| Gramd1b |
G |
T |
9: 40,244,946 (GRCm39) |
A154D |
probably damaging |
Het |
| Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
| H60b |
C |
A |
10: 22,163,043 (GRCm39) |
T206N |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,320,434 (GRCm39) |
I4493F |
probably benign |
Het |
| Il19 |
C |
T |
1: 130,866,852 (GRCm39) |
E43K |
possibly damaging |
Het |
| Ints2 |
A |
G |
11: 86,115,884 (GRCm39) |
Y782H |
probably damaging |
Het |
| Jph1 |
C |
A |
1: 17,167,810 (GRCm39) |
D7Y |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,726,852 (GRCm39) |
I62V |
probably damaging |
Het |
| Map7 |
G |
A |
10: 20,152,026 (GRCm39) |
|
probably null |
Het |
| Matk |
T |
G |
10: 81,095,422 (GRCm39) |
W81G |
probably damaging |
Het |
| Matn4 |
T |
C |
2: 164,242,735 (GRCm39) |
Y121C |
probably damaging |
Het |
| Mical2 |
G |
A |
7: 111,923,293 (GRCm39) |
|
probably null |
Het |
| Miga2 |
T |
G |
2: 30,271,674 (GRCm39) |
Y399D |
probably damaging |
Het |
| Mocos |
A |
T |
18: 24,799,672 (GRCm39) |
E302V |
probably benign |
Het |
| Mrpl11 |
C |
T |
19: 5,014,743 (GRCm39) |
A172V |
probably damaging |
Het |
| Mrpl48 |
A |
C |
7: 100,209,001 (GRCm39) |
Y108D |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,205,278 (GRCm39) |
S1061P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,026,155 (GRCm39) |
K1309* |
probably null |
Het |
| Myom2 |
G |
A |
8: 15,154,173 (GRCm39) |
V704I |
possibly damaging |
Het |
| Nars2 |
A |
G |
7: 96,706,728 (GRCm39) |
H413R |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,355,946 (GRCm39) |
L619P |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,362,817 (GRCm39) |
N983S |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,002,337 (GRCm39) |
V717A |
probably benign |
Het |
| P4ha3 |
G |
T |
7: 99,966,292 (GRCm39) |
G479V |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Phf11a |
A |
G |
14: 59,525,028 (GRCm39) |
S59P |
probably damaging |
Het |
| Phyhip |
G |
A |
14: 70,700,798 (GRCm39) |
S95N |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,065,993 (GRCm39) |
V375A |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,608,456 (GRCm39) |
E3086G |
probably damaging |
Het |
| Psg22 |
A |
G |
7: 18,453,599 (GRCm39) |
E98G |
probably damaging |
Het |
| Rabgap1 |
A |
T |
2: 37,453,610 (GRCm39) |
K1013* |
probably null |
Het |
| Retreg3 |
C |
T |
11: 101,010,526 (GRCm39) |
G27D |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Sema6a |
A |
T |
18: 47,431,369 (GRCm39) |
|
probably null |
Het |
| Septin10 |
T |
C |
10: 59,006,670 (GRCm39) |
E349G |
probably damaging |
Het |
| Serpina1c |
A |
G |
12: 103,863,429 (GRCm39) |
V257A |
probably damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,367,119 (GRCm39) |
M84K |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,043,869 (GRCm39) |
*1482R |
probably null |
Het |
| Skint11 |
A |
G |
4: 114,101,907 (GRCm39) |
S116G |
possibly damaging |
Het |
| Slc2a5 |
G |
A |
4: 150,227,557 (GRCm39) |
V459I |
probably benign |
Het |
| Smarca2 |
T |
G |
19: 26,748,404 (GRCm39) |
Y126* |
probably null |
Het |
| Stab2 |
T |
G |
10: 86,758,867 (GRCm39) |
N1024H |
possibly damaging |
Het |
| Sting1 |
A |
T |
18: 35,869,155 (GRCm39) |
I178N |
probably damaging |
Het |
| Svep1 |
A |
C |
4: 58,128,869 (GRCm39) |
F609L |
probably benign |
Het |
| Tbc1d2 |
G |
A |
4: 46,614,068 (GRCm39) |
T671I |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,855,697 (GRCm39) |
I82T |
probably damaging |
Het |
| Tmem213 |
G |
T |
6: 38,092,517 (GRCm39) |
C83F |
probably damaging |
Het |
| Topaz1 |
G |
A |
9: 122,579,570 (GRCm39) |
D827N |
possibly damaging |
Het |
| Trappc10 |
C |
A |
10: 78,050,646 (GRCm39) |
G265V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,539,808 (GRCm39) |
S26066P |
probably damaging |
Het |
| Zfp292 |
G |
T |
4: 34,809,442 (GRCm39) |
Q1201K |
probably benign |
Het |
| Zfp354a |
T |
A |
11: 50,951,815 (GRCm39) |
|
probably null |
Het |
| Zfp418 |
T |
C |
7: 7,185,096 (GRCm39) |
V353A |
possibly damaging |
Het |
| Zfp444 |
G |
A |
7: 6,192,948 (GRCm39) |
|
probably benign |
Het |
| Zfp503 |
C |
A |
14: 22,035,778 (GRCm39) |
Q379H |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,088,462 (GRCm39) |
K764E |
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 |
|
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'- CTTGGAGAGGCTGATTATGGAAAAC -3'
(R):5'- TGCAGCAATCCTCAAGTACTC -3'
Sequencing Primer
(F):5'- TTATGGAAAACAGGAGGTTGTGCC -3'
(R):5'- TTAATATGAAAACCCATACTTCTCCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation