Incidental Mutation 'R0708:Ints14'
| ID |
63860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints14
|
| Ensembl Gene |
ENSMUSG00000034263 |
| Gene Name |
integrator complex subunit 14 |
| Synonyms |
2010321M09Rik, Vwa9 |
| MMRRC Submission |
038891-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.697)
|
| Stock # |
R0708 (G1)
|
| Quality Score |
156 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64868187-64894260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64891266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 416
(V416I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036615]
[ENSMUST00000037504]
[ENSMUST00000170517]
|
| AlphaFold |
Q8R3P6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036615
|
| SMART Domains |
Protein: ENSMUSP00000044955
Gene: ENSMUSG00000033629
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CS
|
8 |
84 |
2.3e-7 |
PFAM |
|
low complexity region
|
119 |
136 |
N/A |
INTRINSIC |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
195 |
356 |
1.5e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037504
AA Change: V416I
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: V416I
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
181 |
7.54e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170517
AA Change: V416I
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: V416I
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
2 |
181 |
7.54e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
A |
T |
5: 107,506,766 (GRCm39) |
K450* |
probably null |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,276,342 (GRCm39) |
Q750L |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,189,605 (GRCm39) |
S14R |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,830,352 (GRCm39) |
N319S |
probably benign |
Het |
| Frs2 |
G |
A |
10: 116,909,997 (GRCm39) |
T455M |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
T |
C |
1: 75,419,218 (GRCm39) |
F375S |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,424,526 (GRCm39) |
|
probably null |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Insc |
T |
A |
7: 114,444,381 (GRCm39) |
V456E |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,647,152 (GRCm39) |
F29L |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,765,673 (GRCm39) |
L79F |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,788,571 (GRCm39) |
V33E |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,597,368 (GRCm39) |
I224N |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,614,616 (GRCm39) |
F111L |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,990,992 (GRCm39) |
D291G |
probably null |
Het |
| Prl8a8 |
A |
T |
13: 27,695,528 (GRCm39) |
M72K |
possibly damaging |
Het |
| Ptpn7 |
C |
A |
1: 135,062,285 (GRCm39) |
T77K |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,251 (GRCm39) |
S462P |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,866,755 (GRCm39) |
V245A |
probably benign |
Het |
| Sgcb |
A |
T |
5: 73,798,225 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
T |
A |
9: 64,855,172 (GRCm39) |
K578N |
unknown |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Tecr |
A |
T |
8: 84,299,738 (GRCm39) |
I101N |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,179,984 (GRCm39) |
F277L |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,586,152 (GRCm39) |
L343H |
probably benign |
Het |
| Thbs4 |
C |
A |
13: 92,909,694 (GRCm39) |
G368W |
probably damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,123 (GRCm39) |
S222G |
possibly damaging |
Het |
|
| Other mutations in Ints14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Ints14
|
APN |
9 |
64,880,074 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0376:Ints14
|
UTSW |
9 |
64,891,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0589:Ints14
|
UTSW |
9 |
64,887,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Ints14
|
UTSW |
9 |
64,871,715 (GRCm39) |
missense |
probably benign |
|
|
R1192:Ints14
|
UTSW |
9 |
64,874,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2114:Ints14
|
UTSW |
9 |
64,887,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Ints14
|
UTSW |
9 |
64,887,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Ints14
|
UTSW |
9 |
64,887,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Ints14
|
UTSW |
9 |
64,893,366 (GRCm39) |
missense |
probably benign |
|
|
R4811:Ints14
|
UTSW |
9 |
64,871,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Ints14
|
UTSW |
9 |
64,889,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Ints14
|
UTSW |
9 |
64,871,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6080:Ints14
|
UTSW |
9 |
64,874,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6326:Ints14
|
UTSW |
9 |
64,871,719 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6395:Ints14
|
UTSW |
9 |
64,885,406 (GRCm39) |
splice site |
probably null |
|
|
R7036:Ints14
|
UTSW |
9 |
64,871,827 (GRCm39) |
missense |
probably benign |
|
|
R7147:Ints14
|
UTSW |
9 |
64,891,267 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7203:Ints14
|
UTSW |
9 |
64,871,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Ints14
|
UTSW |
9 |
64,880,532 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9390:Ints14
|
UTSW |
9 |
64,891,314 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9561:Ints14
|
UTSW |
9 |
64,882,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Ints14
|
UTSW |
9 |
64,880,007 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACCAAACCTGGCTGTTACTG -3'
(R):5'- GCCACCCCTGATTGCACTGTTAAG -3'
Sequencing Primer
(F):5'- ggtccaacttcatttttctgtattc -3'
(R):5'- CCCTGATTGCACTGTTAAGAAAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation