Incidental Mutation 'R3699:Tepsin'
| ID |
269927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tepsin
|
| Ensembl Gene |
ENSMUSG00000025377 |
| Gene Name |
TEPSIN, adaptor related protein complex 4 accessory protein |
| Synonyms |
Enthd2, 2410002I01Rik |
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
119981357-119989557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119982579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 491
(C491Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026442]
[ENSMUST00000093901]
[ENSMUST00000106225]
[ENSMUST00000106227]
[ENSMUST00000106229]
[ENSMUST00000180242]
|
| AlphaFold |
Q3U3N6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026442
AA Change: C491Y
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: C491Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ENTH
|
20 |
116 |
8.8e-9 |
PFAM |
|
low complexity region
|
131 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093901
AA Change: C497Y
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: C497Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ENTH
|
20 |
135 |
2.5e-10 |
PFAM |
|
low complexity region
|
137 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106225
AA Change: C429Y
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: C429Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ENTH
|
20 |
135 |
3.5e-11 |
PFAM |
|
low complexity region
|
137 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106227
|
| SMART Domains |
Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
257 |
N/A |
INTRINSIC |
|
IQ
|
261 |
283 |
7.58e-2 |
SMART |
|
coiled coil region
|
306 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
576 |
N/A |
INTRINSIC |
|
SCOP:d1jila_
|
672 |
756 |
2e-3 |
SMART |
|
low complexity region
|
785 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
826 |
N/A |
INTRINSIC |
|
coiled coil region
|
874 |
1053 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106229
|
| SMART Domains |
Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
257 |
N/A |
INTRINSIC |
|
IQ
|
261 |
283 |
7.58e-2 |
SMART |
|
coiled coil region
|
306 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
577 |
N/A |
INTRINSIC |
|
SCOP:d1jila_
|
673 |
757 |
2e-3 |
SMART |
|
low complexity region
|
786 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
827 |
N/A |
INTRINSIC |
|
coiled coil region
|
875 |
1054 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180242
|
| SMART Domains |
Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
257 |
N/A |
INTRINSIC |
|
IQ
|
261 |
283 |
7.58e-2 |
SMART |
|
coiled coil region
|
306 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
577 |
N/A |
INTRINSIC |
|
SCOP:d1jila_
|
673 |
757 |
2e-3 |
SMART |
|
low complexity region
|
786 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
827 |
N/A |
INTRINSIC |
|
coiled coil region
|
875 |
1054 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,950,797 (GRCm39) |
L292P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,265,134 (GRCm39) |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,646,485 (GRCm39) |
Y479C |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,802 (GRCm39) |
|
probably benign |
Het |
| Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,405,195 (GRCm39) |
C78F |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
Het |
| Zfyve19 |
A |
G |
2: 119,041,720 (GRCm39) |
T96A |
probably benign |
Het |
|
| Other mutations in Tepsin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02124:Tepsin
|
APN |
11 |
119,982,547 (GRCm39) |
missense |
probably benign |
|
|
IGL02559:Tepsin
|
APN |
11 |
119,987,731 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02967:Tepsin
|
APN |
11 |
119,984,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03352:Tepsin
|
APN |
11 |
119,982,703 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0106:Tepsin
|
UTSW |
11 |
119,982,637 (GRCm39) |
splice site |
probably null |
|
|
R0106:Tepsin
|
UTSW |
11 |
119,982,637 (GRCm39) |
splice site |
probably null |
|
|
R0403:Tepsin
|
UTSW |
11 |
119,984,508 (GRCm39) |
splice site |
probably benign |
|
|
R0722:Tepsin
|
UTSW |
11 |
119,986,163 (GRCm39) |
unclassified |
probably benign |
|
|
R1853:Tepsin
|
UTSW |
11 |
119,989,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Tepsin
|
UTSW |
11 |
119,982,579 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4871:Tepsin
|
UTSW |
11 |
119,982,351 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6619:Tepsin
|
UTSW |
11 |
119,986,428 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6851:Tepsin
|
UTSW |
11 |
119,987,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Tepsin
|
UTSW |
11 |
119,986,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7185:Tepsin
|
UTSW |
11 |
119,984,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Tepsin
|
UTSW |
11 |
119,982,534 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7947:Tepsin
|
UTSW |
11 |
119,985,061 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8697:Tepsin
|
UTSW |
11 |
119,988,354 (GRCm39) |
nonsense |
probably null |
|
|
R8856:Tepsin
|
UTSW |
11 |
119,982,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9496:Tepsin
|
UTSW |
11 |
119,982,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTGTCTGGAGGTCCTGC -3'
(R):5'- TGAAGCCTCCTGTGGACAAC -3'
Sequencing Primer
(F):5'- TCCTGCGAGCTGTGGCAAG -3'
(R):5'- TGTGGACAACAGCTCCCTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation