Incidental Mutation 'R1160:Khdc4'
| ID |
100293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khdc4
|
| Ensembl Gene |
ENSMUSG00000028060 |
| Gene Name |
KH domain containing 4, pre-mRNA splicing factor |
| Synonyms |
2810403A07Rik |
| MMRRC Submission |
039233-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R1160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88593110-88620231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88616169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 452
(P452Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029696]
[ENSMUST00000198042]
[ENSMUST00000198078]
[ENSMUST00000199684]
|
| AlphaFold |
Q3TCX3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029696
AA Change: P452Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029696
Gene: ENSMUSG00000028060
AA Change: P452Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
66 |
N/A |
INTRINSIC |
|
Blast:KH
|
103 |
185 |
2e-28 |
BLAST |
|
PDB:2YQR|A
|
229 |
340 |
6e-76 |
PDB |
|
Blast:KH
|
233 |
319 |
1e-36 |
BLAST |
|
SCOP:d1k1ga_
|
233 |
327 |
4e-16 |
SMART |
|
low complexity region
|
344 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
510 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197300
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198042
AA Change: P452Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142773
Gene: ENSMUSG00000028060
AA Change: P452Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
66 |
N/A |
INTRINSIC |
|
Blast:KH
|
103 |
185 |
7e-29 |
BLAST |
|
PDB:2YQR|A
|
229 |
340 |
2e-77 |
PDB |
|
Blast:KH
|
233 |
319 |
2e-37 |
BLAST |
|
SCOP:d1k1ga_
|
233 |
327 |
3e-16 |
SMART |
|
low complexity region
|
344 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000198078
|
| SMART Domains |
Protein: ENSMUSP00000142760
Gene: ENSMUSG00000028060
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
66 |
N/A |
INTRINSIC |
|
Blast:KH
|
103 |
185 |
5e-29 |
BLAST |
|
PDB:2YQR|A
|
229 |
340 |
1e-77 |
PDB |
|
Blast:KH
|
233 |
319 |
3e-37 |
BLAST |
|
SCOP:d1k1ga_
|
233 |
327 |
4e-17 |
SMART |
|
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198721
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199684
AA Change: P452Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142353
Gene: ENSMUSG00000028060
AA Change: P452Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
66 |
N/A |
INTRINSIC |
|
Blast:KH
|
103 |
185 |
7e-29 |
BLAST |
|
PDB:2YQR|A
|
229 |
340 |
2e-77 |
PDB |
|
Blast:KH
|
233 |
319 |
2e-37 |
BLAST |
|
SCOP:d1k1ga_
|
233 |
327 |
3e-16 |
SMART |
|
low complexity region
|
344 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200622
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.7%
- 20x: 81.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
G |
T |
1: 89,770,876 (GRCm39) |
K622N |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,115,917 (GRCm39) |
|
probably null |
Het |
| Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,427,935 (GRCm39) |
V702A |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,512,322 (GRCm39) |
V15A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccar2 |
C |
T |
14: 70,377,218 (GRCm39) |
V774M |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,989 (GRCm39) |
D379G |
possibly damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,100,405 (GRCm39) |
I45K |
possibly damaging |
Het |
| Ddx17 |
T |
A |
15: 79,425,288 (GRCm39) |
S128C |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,910,614 (GRCm39) |
N192S |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,593,431 (GRCm39) |
D219A |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,298,683 (GRCm39) |
N154S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,640,033 (GRCm39) |
N373D |
possibly damaging |
Het |
| Map3k20 |
A |
G |
2: 72,271,864 (GRCm39) |
N664S |
probably benign |
Het |
| Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pglyrp4 |
T |
A |
3: 90,636,138 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,443,119 (GRCm39) |
E349G |
possibly damaging |
Het |
| Ptprj |
A |
G |
2: 90,274,868 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Rasd1 |
T |
A |
11: 59,855,547 (GRCm39) |
I29F |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,505 (GRCm39) |
F237S |
probably damaging |
Het |
| Sccpdh |
T |
G |
1: 179,511,775 (GRCm39) |
D82E |
probably benign |
Het |
| Slc19a3 |
A |
C |
1: 83,000,413 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,013,995 (GRCm39) |
A401T |
possibly damaging |
Het |
| Snupn |
T |
G |
9: 56,864,389 (GRCm39) |
C29W |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,562,075 (GRCm39) |
V310E |
probably damaging |
Het |
| Srgap1 |
T |
A |
10: 121,691,382 (GRCm39) |
Y284F |
probably benign |
Het |
| Srpk1 |
C |
A |
17: 28,818,748 (GRCm39) |
V363F |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,773,387 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
| Tal1 |
A |
T |
4: 114,925,813 (GRCm39) |
D294V |
probably damaging |
Het |
| Tbl2 |
A |
G |
5: 135,188,246 (GRCm39) |
T347A |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,381,434 (GRCm39) |
S110P |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,835,938 (GRCm39) |
V864A |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,221,073 (GRCm39) |
I80T |
probably benign |
Het |
| Trappc6b |
G |
A |
12: 59,097,064 (GRCm39) |
T86I |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,038,910 (GRCm39) |
I1130N |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,231 (GRCm39) |
V824A |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,654,936 (GRCm39) |
V685E |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,735,268 (GRCm39) |
D368E |
probably damaging |
Het |
|
| Other mutations in Khdc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0085:Khdc4
|
UTSW |
3 |
88,619,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0271:Khdc4
|
UTSW |
3 |
88,593,636 (GRCm39) |
splice site |
probably benign |
|
|
R2348:Khdc4
|
UTSW |
3 |
88,616,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3121:Khdc4
|
UTSW |
3 |
88,596,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3546:Khdc4
|
UTSW |
3 |
88,600,443 (GRCm39) |
splice site |
probably benign |
|
|
R3548:Khdc4
|
UTSW |
3 |
88,600,443 (GRCm39) |
splice site |
probably benign |
|
|
R4688:Khdc4
|
UTSW |
3 |
88,593,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Khdc4
|
UTSW |
3 |
88,604,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5393:Khdc4
|
UTSW |
3 |
88,603,913 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5558:Khdc4
|
UTSW |
3 |
88,600,403 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5579:Khdc4
|
UTSW |
3 |
88,607,582 (GRCm39) |
missense |
probably benign |
|
|
R5782:Khdc4
|
UTSW |
3 |
88,618,985 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5809:Khdc4
|
UTSW |
3 |
88,616,192 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6415:Khdc4
|
UTSW |
3 |
88,607,279 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6566:Khdc4
|
UTSW |
3 |
88,618,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6765:Khdc4
|
UTSW |
3 |
88,593,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Khdc4
|
UTSW |
3 |
88,593,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Khdc4
|
UTSW |
3 |
88,600,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Khdc4
|
UTSW |
3 |
88,619,002 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7852:Khdc4
|
UTSW |
3 |
88,604,043 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8294:Khdc4
|
UTSW |
3 |
88,603,915 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8948:Khdc4
|
UTSW |
3 |
88,617,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8988:Khdc4
|
UTSW |
3 |
88,607,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9053:Khdc4
|
UTSW |
3 |
88,596,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Khdc4
|
UTSW |
3 |
88,593,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation