Incidental Mutation 'R3548:Khdc4'
ID |
268293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Khdc4
|
Ensembl Gene |
ENSMUSG00000028060 |
Gene Name |
KH domain containing 4, pre-mRNA splicing factor |
Synonyms |
2810403A07Rik |
MMRRC Submission |
040667-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.297)
|
Stock # |
R3548 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88593110-88620231 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 88600443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000029696 Gene: ENSMUSG00000028060
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: ENSMUST00000197300
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197479
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198042
|
SMART Domains |
Protein: ENSMUSP00000142773 Gene: ENSMUSG00000028060
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 |
probably benign
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: ENSMUST00000198589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200364
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199684
|
SMART Domains |
Protein: ENSMUSP00000142353 Gene: ENSMUSG00000028060
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.8%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amph |
C |
A |
13: 19,287,129 (GRCm39) |
H279Q |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
Bmal1 |
A |
T |
7: 112,912,752 (GRCm39) |
I610F |
probably damaging |
Het |
Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
Chrnb2 |
T |
A |
3: 89,668,898 (GRCm39) |
Y139F |
probably benign |
Het |
Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
Cr2 |
A |
T |
1: 194,838,196 (GRCm39) |
C1089* |
probably null |
Het |
Dnah10 |
A |
T |
5: 124,824,694 (GRCm39) |
I617F |
possibly damaging |
Het |
F12 |
T |
C |
13: 55,565,950 (GRCm39) |
N132D |
probably benign |
Het |
Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
Frs3 |
T |
G |
17: 48,014,561 (GRCm39) |
I418S |
probably damaging |
Het |
Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
Il17rb |
A |
G |
14: 29,730,729 (GRCm39) |
|
probably null |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Mtus2 |
C |
A |
5: 148,232,316 (GRCm39) |
H120Q |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
Nes |
C |
A |
3: 87,880,429 (GRCm39) |
|
probably benign |
Het |
Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,070,876 (GRCm39) |
C790S |
probably damaging |
Het |
Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
Phf24 |
T |
G |
4: 42,937,879 (GRCm39) |
Y85* |
probably null |
Het |
Pycr1 |
T |
C |
11: 120,533,072 (GRCm39) |
S33G |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sirt2 |
A |
G |
7: 28,467,096 (GRCm39) |
E19G |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,245,225 (GRCm39) |
V359A |
possibly damaging |
Het |
Tnni1 |
A |
G |
1: 135,732,791 (GRCm39) |
|
probably null |
Het |
Ube2q1 |
T |
A |
3: 89,688,383 (GRCm39) |
M183K |
probably damaging |
Het |
Vmn1r50 |
T |
A |
6: 90,084,476 (GRCm39) |
F74I |
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 |
|
R1160:Khdc4
|
UTSW |
3 |
88,616,169 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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'- AAAGGCAGGTTCTCTATGGGC -3'
(R):5'- CACAGCTCTGTCACTAGAGTAG -3'
Sequencing Primer
(F):5'- GGCTTTAGGGAATCAAATTCAGGTC -3'
(R):5'- GCTCTGTCACTAGAGTAGTTACATTG -3'
|
Posted On |
2015-02-19 |