Incidental Mutation 'PIT4802001:Exph5'
| ID |
556737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exph5
|
| Ensembl Gene |
ENSMUSG00000034584 |
| Gene Name |
exophilin 5 |
| Synonyms |
AC079869.22gm5, Slac2b, slac2-b, B130009M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4802001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
53212970-53288814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53286278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1120
(S1120P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051014]
|
| AlphaFold |
Q0VAV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051014
AA Change: S1120P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000062632
Gene: ENSMUSG00000034584
AA Change: S1120P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
970 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
1556 |
1568 |
N/A |
INTRINSIC |
|
low complexity region
|
1747 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1937 |
1959 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.0%
- 10x: 85.4%
- 20x: 73.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,902,172 (GRCm39) |
D741E |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,139,351 (GRCm39) |
D1461G |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,706 (GRCm39) |
Y713H |
probably damaging |
Het |
| AW554918 |
A |
G |
18: 25,473,132 (GRCm39) |
E312G |
possibly damaging |
Het |
| Car4 |
G |
A |
11: 84,855,231 (GRCm39) |
A157T |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,849 (GRCm39) |
M238K |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,589,974 (GRCm39) |
H397Y |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,611 (GRCm39) |
M295V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,488,803 (GRCm39) |
Y586H |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,769,603 (GRCm39) |
P567T |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,464 (GRCm39) |
I754T |
probably damaging |
Het |
| Esyt2 |
G |
A |
12: 116,329,457 (GRCm39) |
A672T |
probably benign |
Het |
| Evx1 |
G |
T |
6: 52,291,175 (GRCm39) |
E116* |
probably null |
Het |
| Fam184a |
A |
T |
10: 53,560,450 (GRCm39) |
L515* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,523,996 (GRCm39) |
D525E |
probably benign |
Het |
| Galt |
T |
C |
4: 41,756,764 (GRCm39) |
W135R |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,648 (GRCm39) |
C42S |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,610 (GRCm39) |
S186P |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,712 (GRCm39) |
E254G |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,278,996 (GRCm39) |
S1509P |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,801 (GRCm39) |
Y2368* |
probably null |
Het |
| Mtmr4 |
T |
A |
11: 87,501,953 (GRCm39) |
V669E |
probably benign |
Het |
| Myh10 |
C |
T |
11: 68,655,918 (GRCm39) |
R471C |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,380,671 (GRCm39) |
T1416I |
unknown |
Het |
| Nrip1 |
A |
C |
16: 76,090,157 (GRCm39) |
S467A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,695,941 (GRCm39) |
N190Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,763 (GRCm39) |
L30Q |
probably null |
Het |
| Or5h25 |
A |
C |
16: 58,930,964 (GRCm39) |
M3R |
probably benign |
Het |
| Pdxp |
A |
G |
15: 78,802,611 (GRCm39) |
S282G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,904 (GRCm39) |
S220T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,540 (GRCm39) |
V2390E |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,529,229 (GRCm39) |
L783R |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,972 (GRCm39) |
A83T |
probably benign |
Het |
| Rab4b |
A |
G |
7: 26,875,267 (GRCm39) |
V50A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,351,100 (GRCm39) |
T370S |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,012,423 (GRCm39) |
I123F |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,046,991 (GRCm39) |
V1228D |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,963,539 (GRCm39) |
V23A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,313,996 (GRCm39) |
I346N |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,165 (GRCm39) |
Y457N |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,458,427 (GRCm39) |
P686S |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,010 (GRCm39) |
S570P |
unknown |
Het |
| Tmc5 |
A |
T |
7: 118,271,449 (GRCm39) |
M921L |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,772,462 (GRCm39) |
Y1594C |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,546,008 (GRCm39) |
H1615Q |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,037 (GRCm39) |
Y197N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,845,068 (GRCm39) |
F2051L |
probably damaging |
Het |
| Wdr6 |
C |
T |
9: 108,451,765 (GRCm39) |
C706Y |
probably damaging |
Het |
| Zfand4 |
A |
G |
6: 116,261,736 (GRCm39) |
N100D |
probably damaging |
Het |
|
| Other mutations in Exph5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Exph5
|
APN |
9 |
53,288,006 (GRCm39) |
nonsense |
probably null |
|
|
IGL01387:Exph5
|
APN |
9 |
53,285,265 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01985:Exph5
|
APN |
9 |
53,287,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02122:Exph5
|
APN |
9 |
53,284,974 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02156:Exph5
|
APN |
9 |
53,286,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02192:Exph5
|
APN |
9 |
53,287,625 (GRCm39) |
nonsense |
probably null |
|
|
IGL02491:Exph5
|
APN |
9 |
53,286,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0002:Exph5
|
UTSW |
9 |
53,285,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0026:Exph5
|
UTSW |
9 |
53,287,779 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0086:Exph5
|
UTSW |
9 |
53,249,230 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0152:Exph5
|
UTSW |
9 |
53,264,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0369:Exph5
|
UTSW |
9 |
53,284,602 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0409:Exph5
|
UTSW |
9 |
53,285,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0517:Exph5
|
UTSW |
9 |
53,284,062 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0658:Exph5
|
UTSW |
9 |
53,288,775 (GRCm39) |
missense |
unknown |
|
|
R1606:Exph5
|
UTSW |
9 |
53,285,595 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1739:Exph5
|
UTSW |
9 |
53,286,888 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1769:Exph5
|
UTSW |
9 |
53,285,109 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1828:Exph5
|
UTSW |
9 |
53,287,941 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1862:Exph5
|
UTSW |
9 |
53,287,548 (GRCm39) |
missense |
probably benign |
|
|
R1993:Exph5
|
UTSW |
9 |
53,284,935 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2012:Exph5
|
UTSW |
9 |
53,278,466 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2044:Exph5
|
UTSW |
9 |
53,283,979 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2402:Exph5
|
UTSW |
9 |
53,286,225 (GRCm39) |
nonsense |
probably null |
|
|
R3817:Exph5
|
UTSW |
9 |
53,286,794 (GRCm39) |
nonsense |
probably null |
|
|
R4771:Exph5
|
UTSW |
9 |
53,284,965 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4869:Exph5
|
UTSW |
9 |
53,287,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4926:Exph5
|
UTSW |
9 |
53,287,925 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4996:Exph5
|
UTSW |
9 |
53,286,910 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5254:Exph5
|
UTSW |
9 |
53,249,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5522:Exph5
|
UTSW |
9 |
53,285,613 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5947:Exph5
|
UTSW |
9 |
53,286,522 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5961:Exph5
|
UTSW |
9 |
53,288,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6093:Exph5
|
UTSW |
9 |
53,283,917 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6144:Exph5
|
UTSW |
9 |
53,284,328 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6254:Exph5
|
UTSW |
9 |
53,284,010 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6279:Exph5
|
UTSW |
9 |
53,285,246 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6300:Exph5
|
UTSW |
9 |
53,285,246 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6485:Exph5
|
UTSW |
9 |
53,287,991 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6553:Exph5
|
UTSW |
9 |
53,213,012 (GRCm39) |
start gained |
probably benign |
|
|
R6792:Exph5
|
UTSW |
9 |
53,286,617 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7026:Exph5
|
UTSW |
9 |
53,251,728 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7340:Exph5
|
UTSW |
9 |
53,288,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7347:Exph5
|
UTSW |
9 |
53,287,196 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7352:Exph5
|
UTSW |
9 |
53,287,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7520:Exph5
|
UTSW |
9 |
53,278,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7521:Exph5
|
UTSW |
9 |
53,285,377 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7560:Exph5
|
UTSW |
9 |
53,287,073 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7581:Exph5
|
UTSW |
9 |
53,283,857 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7726:Exph5
|
UTSW |
9 |
53,284,475 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7976:Exph5
|
UTSW |
9 |
53,287,935 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8017:Exph5
|
UTSW |
9 |
53,284,752 (GRCm39) |
missense |
probably benign |
|
|
R8019:Exph5
|
UTSW |
9 |
53,284,752 (GRCm39) |
missense |
probably benign |
|
|
R8302:Exph5
|
UTSW |
9 |
53,287,776 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8420:Exph5
|
UTSW |
9 |
53,287,148 (GRCm39) |
nonsense |
probably null |
|
|
R8551:Exph5
|
UTSW |
9 |
53,285,351 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8708:Exph5
|
UTSW |
9 |
53,287,096 (GRCm39) |
missense |
probably benign |
|
|
R8889:Exph5
|
UTSW |
9 |
53,287,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Exph5
|
UTSW |
9 |
53,284,935 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9255:Exph5
|
UTSW |
9 |
53,284,609 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9727:Exph5
|
UTSW |
9 |
53,287,702 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0028:Exph5
|
UTSW |
9 |
53,287,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Exph5
|
UTSW |
9 |
53,288,719 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Exph5
|
UTSW |
9 |
53,285,513 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTAGGAATGGGCCACTTC -3'
(R):5'- CAGTGTGTTCTTGAGCAAGTTC -3'
Sequencing Primer
(F):5'- AGGAATGGGCCACTTCCCTTC -3'
(R):5'- GAGCAAGTTCCTTTTCAGAGAAAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation