Incidental Mutation 'R2348:Khdc4'
| ID |
246023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khdc4
|
| Ensembl Gene |
ENSMUSG00000028060 |
| Gene Name |
KH domain containing 4, pre-mRNA splicing factor |
| Synonyms |
2810403A07Rik |
| MMRRC Submission |
040330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R2348 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88593110-88620231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88616183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 457
(S457P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029696]
[ENSMUST00000198042]
[ENSMUST00000198078]
[ENSMUST00000199684]
|
| AlphaFold |
Q3TCX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029696
AA Change: S457P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000029696
Gene: ENSMUSG00000028060
AA Change: S457P
| 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 benign
Transcript: ENSMUST00000198042
AA Change: S457P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142773
Gene: ENSMUSG00000028060
AA Change: S457P
| 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 |
unknown
Transcript: ENSMUST00000198078
AA Change: V422A
|
| SMART Domains |
Protein: ENSMUSP00000142760
Gene: ENSMUSG00000028060
AA Change: V422A
| 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 benign
Transcript: ENSMUST00000199684
AA Change: S457P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142353
Gene: ENSMUSG00000028060
AA Change: S457P
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1 |
A |
G |
17: 93,509,702 (GRCm39) |
D51G |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,614,088 (GRCm39) |
I205T |
possibly damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,177,555 (GRCm39) |
|
probably benign |
Het |
| Asb18 |
T |
G |
1: 89,942,256 (GRCm39) |
D15A |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,403,568 (GRCm39) |
S1368I |
possibly damaging |
Het |
| Atp9a |
A |
T |
2: 168,552,746 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,062,573 (GRCm39) |
V653A |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,917,017 (GRCm39) |
S304T |
probably benign |
Het |
| Dennd4c |
G |
A |
4: 86,729,764 (GRCm39) |
V789I |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,543,126 (GRCm39) |
D176E |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,090,840 (GRCm39) |
T747A |
probably benign |
Het |
| Htr2a |
A |
T |
14: 74,882,550 (GRCm39) |
N179Y |
probably damaging |
Het |
| Ift52 |
T |
C |
2: 162,887,177 (GRCm39) |
V393A |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,050,998 (GRCm39) |
S562P |
possibly damaging |
Het |
| Kiss1r |
G |
T |
10: 79,757,654 (GRCm39) |
R336L |
probably benign |
Het |
| Klra13-ps |
A |
T |
6: 130,268,271 (GRCm39) |
|
noncoding transcript |
Het |
| Krt8 |
T |
C |
15: 101,907,300 (GRCm39) |
D261G |
probably benign |
Het |
| Mycl |
A |
T |
4: 122,890,745 (GRCm39) |
T144S |
probably benign |
Het |
| Naip5 |
C |
T |
13: 100,356,246 (GRCm39) |
R1123K |
probably benign |
Het |
| Or5b122 |
A |
T |
19: 13,563,553 (GRCm39) |
E295V |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,278,507 (GRCm39) |
|
probably null |
Het |
| Rc3h1 |
C |
A |
1: 160,778,430 (GRCm39) |
R452S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,461 (GRCm39) |
K258N |
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,683,664 (GRCm39) |
S29P |
probably damaging |
Het |
| Zfp457 |
T |
A |
13: 67,441,468 (GRCm39) |
D369V |
probably benign |
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 |
|
|
R1160:Khdc4
|
UTSW |
3 |
88,616,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
PCR Primer
(F):5'- GTGAAACACGCTCACTGTTG -3'
(R):5'- ACTGGTCAAGTAAACTCACTCTTGC -3'
Sequencing Primer
(F):5'- CTCACTGTTGAGGTTTGTTCTTAG -3'
(R):5'- CCTAACATAACTGGATTTCAGAAGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation