Incidental Mutation 'R4553:Tipin'
| ID |
343183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tipin
|
| Ensembl Gene |
ENSMUSG00000032397 |
| Gene Name |
timeless interacting protein |
| Synonyms |
1110005A05Rik, 1110018P21Rik |
| MMRRC Submission |
041595-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.528)
|
| Stock # |
R4553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64188863-64212706 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 64195385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034964]
[ENSMUST00000213165]
[ENSMUST00000213165]
[ENSMUST00000213289]
[ENSMUST00000215031]
[ENSMUST00000216594]
[ENSMUST00000216594]
|
| AlphaFold |
Q91WA1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034964
|
| SMART Domains |
Protein: ENSMUSP00000034964
Gene: ENSMUSG00000032397
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
43 |
N/A |
INTRINSIC |
|
Pfam:Swi3
|
63 |
143 |
2.8e-36 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213165
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213165
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213289
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215031
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216594
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216594
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM and aids in protecting cells against DNA damage and stress. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
T |
C |
5: 114,951,254 (GRCm39) |
Y49C |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,716,912 (GRCm39) |
T32A |
probably damaging |
Het |
| Adra2a |
T |
C |
19: 54,035,166 (GRCm39) |
V174A |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| Cand2 |
C |
A |
6: 115,769,172 (GRCm39) |
R661S |
probably damaging |
Het |
| Cd274 |
T |
C |
19: 29,357,848 (GRCm39) |
V180A |
probably benign |
Het |
| Crat |
T |
C |
2: 30,298,229 (GRCm39) |
T157A |
probably benign |
Het |
| Cts6 |
G |
A |
13: 61,345,407 (GRCm39) |
P230L |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,130,877 (GRCm39) |
Y3C |
possibly damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Garin1a |
A |
G |
6: 29,287,705 (GRCm39) |
I210M |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,200,200 (GRCm39) |
C130S |
probably damaging |
Het |
| Ifi35 |
T |
C |
11: 101,348,717 (GRCm39) |
V188A |
probably damaging |
Het |
| Iqsec2 |
A |
G |
X: 150,994,277 (GRCm39) |
H585R |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,622,910 (GRCm39) |
L842P |
probably damaging |
Het |
| Kif3a |
C |
A |
11: 53,469,745 (GRCm39) |
L119I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,629 (GRCm39) |
D910G |
probably benign |
Het |
| Lyve1 |
T |
C |
7: 110,451,567 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,353,205 (GRCm39) |
T398A |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,404 (GRCm39) |
M297T |
probably benign |
Het |
| Nog |
A |
G |
11: 89,192,248 (GRCm39) |
L200P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Phf11b |
G |
A |
14: 59,578,734 (GRCm39) |
P11S |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Pld1 |
G |
T |
3: 28,178,851 (GRCm39) |
R915L |
probably benign |
Het |
| Sell |
C |
T |
1: 163,899,685 (GRCm39) |
T34I |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,559,874 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,667,663 (GRCm39) |
V432A |
probably damaging |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,661,015 (GRCm39) |
T700A |
probably benign |
Het |
|
| Other mutations in Tipin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01457:Tipin
|
APN |
9 |
64,211,690 (GRCm39) |
missense |
probably benign |
|
|
IGL02164:Tipin
|
APN |
9 |
64,201,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02431:Tipin
|
APN |
9 |
64,208,467 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03355:Tipin
|
APN |
9 |
64,195,406 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0410:Tipin
|
UTSW |
9 |
64,195,397 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R2080:Tipin
|
UTSW |
9 |
64,197,658 (GRCm39) |
nonsense |
probably null |
|
|
R2870:Tipin
|
UTSW |
9 |
64,211,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2870:Tipin
|
UTSW |
9 |
64,211,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4552:Tipin
|
UTSW |
9 |
64,195,385 (GRCm39) |
splice site |
probably null |
|
|
R4812:Tipin
|
UTSW |
9 |
64,211,694 (GRCm39) |
missense |
probably benign |
|
|
R7330:Tipin
|
UTSW |
9 |
64,195,508 (GRCm39) |
missense |
probably benign |
|
|
R8985:Tipin
|
UTSW |
9 |
64,195,385 (GRCm39) |
splice site |
probably null |
|
|
R9224:Tipin
|
UTSW |
9 |
64,195,430 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCACAACTCAGTTCTGATGA -3'
(R):5'- ATCTGATACCCTCTTCTGGTGTG -3'
Sequencing Primer
(F):5'- AACTCAGTTCTGATGAGTCATTTTCC -3'
(R):5'- ACAACTAAGCTTGGTGGCTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation