Incidental Mutation 'R3546:Khdc4'
| ID |
268194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khdc4
|
| Ensembl Gene |
ENSMUSG00000028060 |
| Gene Name |
KH domain containing 4, pre-mRNA splicing factor |
| Synonyms |
2810403A07Rik |
| MMRRC Submission |
040665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R3546 (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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200364
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,668,926 (GRCm39) |
|
probably benign |
Het |
| Bves |
A |
G |
10: 45,230,907 (GRCm39) |
R293G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,339 (GRCm39) |
N375S |
probably benign |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,083,262 (GRCm39) |
V46A |
probably damaging |
Het |
| Ddx23 |
G |
A |
15: 98,548,613 (GRCm39) |
T365M |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,903,823 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Hdac7 |
G |
T |
15: 97,705,890 (GRCm39) |
Q361K |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,246,675 (GRCm39) |
L181P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,982,243 (GRCm39) |
Y677C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,943 (GRCm39) |
V424A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,014 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdilt |
C |
A |
7: 119,099,711 (GRCm39) |
E186* |
probably null |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Sult6b1 |
G |
A |
17: 79,214,336 (GRCm39) |
T29I |
probably benign |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ush1g |
T |
A |
11: 115,209,723 (GRCm39) |
H157L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly 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 |
|
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'- TAAAGGCAGGTTCTCTATGGGC -3'
(R):5'- CACAGCTCTGTCACTAGAGTAGTTAC -3'
Sequencing Primer
(F):5'- GGCTTTAGGGAATCAAATTCAGGTC -3'
(R):5'- ATACCAAAGAAGGAATGGACTAATGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation