Incidental Mutation 'R5450:Itprid1'
| ID |
429267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
043015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5450 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 55945796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044729
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
| 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 |
0.9488 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,846,405 (GRCm39) |
|
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,788,921 (GRCm39) |
N144S |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,602,160 (GRCm39) |
M1454K |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,412,327 (GRCm39) |
H138L |
possibly damaging |
Het |
| Cd200r2 |
T |
A |
16: 44,729,934 (GRCm39) |
D159E |
probably benign |
Het |
| Cd79a |
G |
T |
7: 24,598,687 (GRCm39) |
G79C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,712,133 (GRCm39) |
H38R |
possibly damaging |
Het |
| Cers1 |
T |
C |
8: 70,770,947 (GRCm39) |
L119P |
probably damaging |
Het |
| Ces1f |
C |
A |
8: 93,992,423 (GRCm39) |
V343L |
probably benign |
Het |
| Ces3a |
G |
A |
8: 105,784,550 (GRCm39) |
G511S |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,175,079 (GRCm39) |
C98R |
probably benign |
Het |
| Cyp2j11 |
C |
A |
4: 96,228,113 (GRCm39) |
V169L |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,860 (GRCm39) |
T523A |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,776,981 (GRCm39) |
S567P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dsg1b |
A |
C |
18: 20,542,121 (GRCm39) |
H876P |
probably damaging |
Het |
| Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,948,679 (GRCm39) |
F393S |
possibly damaging |
Het |
| Eral1 |
C |
T |
11: 77,969,183 (GRCm39) |
D106N |
probably benign |
Het |
| Esp18 |
G |
T |
17: 39,719,070 (GRCm39) |
R23M |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,697,143 (GRCm39) |
V674I |
probably benign |
Het |
| Fbxw13 |
A |
C |
9: 109,013,225 (GRCm39) |
N154K |
probably benign |
Het |
| Gtpbp6 |
A |
G |
5: 110,254,991 (GRCm39) |
V130A |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,903,050 (GRCm39) |
D1067G |
possibly damaging |
Het |
| Ighg1 |
A |
T |
12: 113,294,126 (GRCm39) |
S6T |
unknown |
Het |
| Ikzf3 |
C |
T |
11: 98,357,912 (GRCm39) |
R475H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,819,913 (GRCm39) |
L311* |
probably null |
Het |
| Kmt2d |
C |
A |
15: 98,752,967 (GRCm39) |
E184D |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,047,996 (GRCm39) |
I314F |
probably damaging |
Het |
| Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,316,547 (GRCm39) |
|
probably benign |
Het |
| Mx1 |
A |
T |
16: 97,255,347 (GRCm39) |
Y235* |
probably null |
Het |
| Or4x6 |
A |
G |
2: 89,949,013 (GRCm39) |
*310Q |
probably null |
Het |
| Pamr1 |
T |
G |
2: 102,469,662 (GRCm39) |
Y403D |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,953,162 (GRCm39) |
E551G |
possibly damaging |
Het |
| Patl2 |
A |
G |
2: 121,955,762 (GRCm39) |
V258A |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,074,041 (GRCm39) |
F255L |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Psg18 |
T |
A |
7: 18,087,350 (GRCm39) |
I103F |
probably benign |
Het |
| Rpl39-ps |
A |
G |
15: 102,543,583 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,663 (GRCm39) |
F106I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sardh |
G |
T |
2: 27,129,710 (GRCm39) |
T245K |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,088,074 (GRCm39) |
I1619S |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 111,882,729 (GRCm39) |
V258I |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,728,869 (GRCm39) |
D331G |
probably benign |
Het |
| Slc29a2 |
A |
G |
19: 5,079,303 (GRCm39) |
I309V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,957,680 (GRCm39) |
V130I |
possibly damaging |
Het |
| Slc4a3 |
C |
A |
1: 75,529,300 (GRCm39) |
A531D |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,910,672 (GRCm39) |
T399I |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,987,529 (GRCm39) |
H726L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,784 (GRCm39) |
K309R |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,578,217 (GRCm39) |
C4S |
possibly damaging |
Het |
| Sulf1 |
T |
C |
1: 12,867,131 (GRCm39) |
V105A |
probably benign |
Het |
| Tcstv7a |
A |
T |
13: 120,289,899 (GRCm39) |
V99E |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,195 (GRCm39) |
L109P |
probably damaging |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,376 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,611 (GRCm39) |
Y166C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,034,011 (GRCm39) |
T504A |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,851,324 (GRCm39) |
A300E |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,091,039 (GRCm39) |
E149G |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,274,771 (GRCm39) |
F35L |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,366,093 (GRCm39) |
Y418C |
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 |
|
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'- CATACCTGCCCACTGTTGTG -3'
(R):5'- ATACTGACTTGGAGATGATACAGG -3'
Sequencing Primer
(F):5'- GTGTCTGCTGTCATCACTGC -3'
(R):5'- GACTTGGAGATGATACAGGTTAATTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation