Incidental Mutation 'R0021:Krtcap3'
| ID |
19020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krtcap3
|
| Ensembl Gene |
ENSMUSG00000029149 |
| Gene Name |
keratinocyte associated protein 3 |
| Synonyms |
2010001C09Rik |
| MMRRC Submission |
038316-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R0021 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31409050-31410541 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31410303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 227
(H227R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031034]
[ENSMUST00000041565]
[ENSMUST00000054829]
[ENSMUST00000201937]
[ENSMUST00000201625]
[ENSMUST00000202576]
|
| AlphaFold |
Q8K177 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031034
|
| SMART Domains |
Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
60 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
80 |
324 |
5.8e-26 |
PFAM |
|
Pfam:Pkinase
|
80 |
327 |
1e-26 |
PFAM |
|
low complexity region
|
412 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041565
|
| SMART Domains |
Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
44 |
6e-3 |
SMART |
|
WD40
|
55 |
94 |
2.22e0 |
SMART |
|
WD40
|
102 |
139 |
1.23e2 |
SMART |
|
WD40
|
141 |
180 |
4.6e0 |
SMART |
|
WD40
|
186 |
223 |
3.3e1 |
SMART |
|
WD40
|
225 |
267 |
4.42e1 |
SMART |
|
WD40
|
279 |
314 |
1.03e1 |
SMART |
|
Blast:WD40
|
516 |
550 |
5e-13 |
BLAST |
|
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
625 |
1026 |
1.7e-10 |
PROSPERO |
|
Blast:TPR
|
1029 |
1062 |
2e-13 |
BLAST |
|
low complexity region
|
1077 |
1091 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1101 |
1498 |
1.7e-10 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054829
AA Change: H227R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149
AA Change: H227R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
211 |
8.6e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114570
AA Change: H227R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110217
Gene: ENSMUSG00000029149
AA Change: H227R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201937
AA Change: H227R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149
AA Change: H227R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201625
AA Change: H227R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
AA Change: H227R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCLP
|
19 |
206 |
1.8e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202576
|
| SMART Domains |
Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
60 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
79 |
335 |
1e-24 |
PFAM |
|
Pfam:Pkinase_Tyr
|
81 |
332 |
6.5e-25 |
PFAM |
|
low complexity region
|
420 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
484 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 84.2%
- 3x: 78.9%
- 10x: 65.7%
- 20x: 50.3%
|
| Validation Efficiency |
96% (92/96) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,462,643 (GRCm39) |
E1105G |
probably damaging |
Het |
| Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| Ccr6 |
G |
A |
17: 8,475,598 (GRCm39) |
V268M |
possibly damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,314,830 (GRCm39) |
T626A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
| Duxf4 |
C |
A |
10: 58,071,385 (GRCm39) |
E276D |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,830,201 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,870,453 (GRCm39) |
D94V |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,370 (GRCm39) |
H232R |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,413,997 (GRCm39) |
T1099I |
possibly damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
| Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
| Prss52 |
T |
G |
14: 64,341,857 (GRCm39) |
V16G |
probably benign |
Het |
| Psmb9 |
G |
A |
17: 34,403,277 (GRCm39) |
A80V |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,500,859 (GRCm39) |
V7A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
| Setd6 |
A |
G |
8: 96,443,293 (GRCm39) |
K19E |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
| Slc27a2 |
T |
C |
2: 126,409,806 (GRCm39) |
|
probably benign |
Het |
| Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
| Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
| Wrap53 |
A |
T |
11: 69,454,712 (GRCm39) |
M219K |
probably damaging |
Het |
| Zfp790 |
G |
A |
7: 29,525,113 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Krtcap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01503:Krtcap3
|
APN |
5 |
31,409,167 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
|
IGL02172:Krtcap3
|
APN |
5 |
31,409,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Krtcap3
|
UTSW |
5 |
31,410,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0553:Krtcap3
|
UTSW |
5 |
31,409,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6258:Krtcap3
|
UTSW |
5 |
31,409,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7418:Krtcap3
|
UTSW |
5 |
31,409,881 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7655:Krtcap3
|
UTSW |
5 |
31,409,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Krtcap3
|
UTSW |
5 |
31,409,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Krtcap3
|
UTSW |
5 |
31,410,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation