Incidental Mutation 'R5542:Itprid1'
| ID |
436024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
043100-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55955380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 996
(P996Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044729
AA Change: P996Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: P996Q
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
C |
T |
3: 59,932,484 (GRCm39) |
T333I |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,333,798 (GRCm39) |
R574C |
probably damaging |
Het |
| Actr10 |
T |
C |
12: 71,001,430 (GRCm39) |
|
probably benign |
Het |
| Ankdd1a |
T |
A |
9: 65,411,472 (GRCm39) |
|
probably null |
Het |
| Anks4b |
C |
T |
7: 119,781,646 (GRCm39) |
Q226* |
probably null |
Het |
| AW146154 |
C |
A |
7: 41,130,801 (GRCm39) |
G105V |
probably benign |
Het |
| Cdh4 |
T |
A |
2: 179,502,019 (GRCm39) |
N326K |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,860,517 (GRCm39) |
T410A |
possibly damaging |
Het |
| Cndp2 |
A |
T |
18: 84,690,201 (GRCm39) |
M247K |
probably damaging |
Het |
| Crx |
G |
A |
7: 15,602,262 (GRCm39) |
R139C |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,571,037 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,757,779 (GRCm39) |
D326G |
probably damaging |
Het |
| Edem1 |
C |
T |
6: 108,831,290 (GRCm39) |
R584C |
possibly damaging |
Het |
| Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| Fbrsl1 |
C |
T |
5: 110,526,307 (GRCm39) |
G437R |
probably damaging |
Het |
| Fbxo7 |
A |
C |
10: 85,869,149 (GRCm39) |
Q201P |
probably benign |
Het |
| Fbxo9 |
T |
C |
9: 78,008,938 (GRCm39) |
M12V |
possibly damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,854,914 (GRCm39) |
I1847F |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,688 (GRCm39) |
S640P |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,812,207 (GRCm39) |
N2842I |
possibly damaging |
Het |
| Fst |
G |
T |
13: 114,592,241 (GRCm39) |
Q159K |
probably damaging |
Het |
| Fuom |
A |
T |
7: 139,680,025 (GRCm39) |
*109R |
probably null |
Het |
| Hhipl2 |
A |
G |
1: 183,214,055 (GRCm39) |
D377G |
probably damaging |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ighm |
A |
G |
12: 113,382,601 (GRCm39) |
|
probably benign |
Het |
| Ighv1-85 |
T |
A |
12: 115,963,847 (GRCm39) |
Y51F |
probably benign |
Het |
| Ighv2-3 |
A |
T |
12: 113,574,833 (GRCm39) |
D107E |
probably benign |
Het |
| Ighv2-6-8 |
T |
A |
12: 113,760,187 (GRCm39) |
M1L |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,163,683 (GRCm39) |
V247A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,672,729 (GRCm39) |
F154L |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,898,829 (GRCm39) |
C177S |
possibly damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,780,156 (GRCm39) |
G377S |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,675,249 (GRCm39) |
I189K |
probably benign |
Het |
| Msantd2 |
G |
A |
9: 37,428,555 (GRCm39) |
G185R |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,691,354 (GRCm39) |
|
probably benign |
Het |
| Muc21 |
T |
C |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
A |
T |
11: 94,398,572 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,316,353 (GRCm39) |
D1852G |
probably benign |
Het |
| Ndc80 |
A |
T |
17: 71,807,276 (GRCm39) |
V560D |
probably benign |
Het |
| Nscme3l |
A |
T |
19: 5,553,463 (GRCm39) |
V106D |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,030 (GRCm39) |
V208E |
possibly damaging |
Het |
| Or2t48 |
A |
C |
11: 58,420,710 (GRCm39) |
V34G |
probably benign |
Het |
| Or56a3 |
A |
T |
7: 104,735,565 (GRCm39) |
D214V |
probably damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,286 (GRCm39) |
S260R |
probably damaging |
Het |
| Or9i1b |
T |
C |
19: 13,896,411 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,819,651 (GRCm39) |
Y400F |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,634,515 (GRCm39) |
|
silent |
Het |
| Plxna4 |
T |
A |
6: 32,183,165 (GRCm39) |
I913F |
probably damaging |
Het |
| Psmc1 |
T |
C |
12: 100,086,399 (GRCm39) |
|
probably null |
Het |
| Robo2 |
G |
A |
16: 73,695,853 (GRCm39) |
T1430I |
probably benign |
Het |
| Safb2 |
G |
A |
17: 56,882,647 (GRCm39) |
R329C |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,926 (GRCm39) |
H83R |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 39,952,784 (GRCm39) |
F237L |
probably benign |
Het |
| Slc37a1 |
A |
T |
17: 31,559,236 (GRCm39) |
T439S |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Smyd3 |
A |
T |
1: 179,238,024 (GRCm39) |
D114E |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,199,324 (GRCm39) |
I468T |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,241,736 (GRCm39) |
N130I |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,029,757 (GRCm39) |
V1030A |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,727,065 (GRCm39) |
D1135E |
probably damaging |
Het |
| Tsga10 |
T |
A |
1: 37,800,598 (GRCm39) |
D542V |
probably damaging |
Het |
| Ubqlnl |
G |
A |
7: 103,798,904 (GRCm39) |
Q198* |
probably null |
Het |
| Unc93a2 |
A |
T |
17: 7,637,187 (GRCm39) |
C334S |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,189,902 (GRCm39) |
M43K |
probably benign |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,531 (GRCm39) |
I32N |
possibly damaging |
Het |
| Vmn1r29 |
C |
T |
6: 58,285,108 (GRCm39) |
T276I |
probably benign |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,034 (GRCm39) |
D191E |
probably damaging |
Het |
| Zbtb5 |
C |
A |
4: 44,995,052 (GRCm39) |
V111F |
probably damaging |
Het |
| Zfp12 |
C |
T |
5: 143,230,240 (GRCm39) |
P189L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,739,140 (GRCm39) |
F1042L |
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 |
|
|
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'- TGCGACAATCTGCCACAATG -3'
(R):5'- CAGTCAGTTACATAGTGGGCG -3'
Sequencing Primer
(F):5'- TCTGCCACAATGCAACTGG -3'
(R):5'- TTACATAGTGGGCGCATGCAATC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation