Incidental Mutation 'R1364:Unkl'
| ID |
162865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unkl
|
| Ensembl Gene |
ENSMUSG00000015127 |
| Gene Name |
unkempt family like zinc finger |
| Synonyms |
1300004G08Rik |
| MMRRC Submission |
039429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R1364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25407371-25453417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25408597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 54
(I54V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039734]
[ENSMUST00000088307]
[ENSMUST00000160785]
[ENSMUST00000160896]
|
| AlphaFold |
Q5FWH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039734
AA Change: I79V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: I79V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
69 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
76 |
103 |
1.33e-1 |
SMART |
|
Blast:ZnF_C3H1
|
115 |
144 |
7e-13 |
BLAST |
|
ZnF_C3H1
|
207 |
232 |
2.49e1 |
SMART |
|
ZnF_C3H1
|
243 |
276 |
9.28e-1 |
SMART |
|
ZnF_C3H1
|
285 |
312 |
8.47e-4 |
SMART |
|
low complexity region
|
371 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
527 |
N/A |
INTRINSIC |
|
coiled coil region
|
561 |
642 |
N/A |
INTRINSIC |
|
RING
|
686 |
720 |
4.13e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088307
|
| SMART Domains |
Protein: ENSMUSP00000137122
Gene: ENSMUSG00000067722
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Pfam:CCSMST1
|
49 |
121 |
6.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160785
AA Change: I54V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124121
Gene: ENSMUSG00000015127
AA Change: I54V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
44 |
N/A |
INTRINSIC |
|
Blast:ZnF_C3H1
|
51 |
78 |
3e-12 |
BLAST |
|
Blast:ZnF_C3H1
|
90 |
119 |
2e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160896
|
| SMART Domains |
Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
21 |
46 |
2.49e1 |
SMART |
|
ZnF_C3H1
|
57 |
90 |
9.28e-1 |
SMART |
|
ZnF_C3H1
|
99 |
126 |
8.47e-4 |
SMART |
|
low complexity region
|
185 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
341 |
N/A |
INTRINSIC |
|
coiled coil region
|
375 |
456 |
N/A |
INTRINSIC |
|
RING
|
500 |
534 |
4.13e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,848,055 (GRCm39) |
L488I |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,179 (GRCm39) |
F2519S |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,956,654 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
T |
C |
5: 87,825,443 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 103,985,363 (GRCm39) |
S1920T |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 118,016,432 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,949,043 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,307,375 (GRCm39) |
L1023Q |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,351 (GRCm39) |
T333A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,106 (GRCm39) |
M906V |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,672 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,397,848 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,809 (GRCm39) |
V206A |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,058,768 (GRCm39) |
D320G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,225,310 (GRCm39) |
E563G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,687 (GRCm39) |
T643A |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Ripk3 |
A |
C |
14: 56,022,717 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
T |
C |
15: 80,892,143 (GRCm39) |
F237S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,560,934 (GRCm39) |
V960I |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,782,693 (GRCm39) |
L543P |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,838,222 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Unkl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Unkl
|
APN |
17 |
25,429,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02011:Unkl
|
APN |
17 |
25,437,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Unkl
|
APN |
17 |
25,448,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Unkl
|
UTSW |
17 |
25,449,685 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0394:Unkl
|
UTSW |
17 |
25,449,751 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0638:Unkl
|
UTSW |
17 |
25,427,057 (GRCm39) |
splice site |
probably benign |
|
|
R1596:Unkl
|
UTSW |
17 |
25,424,707 (GRCm39) |
missense |
probably null |
1.00 |
|
R1899:Unkl
|
UTSW |
17 |
25,448,434 (GRCm39) |
splice site |
probably null |
|
|
R1960:Unkl
|
UTSW |
17 |
25,428,619 (GRCm39) |
splice site |
probably benign |
|
|
R3774:Unkl
|
UTSW |
17 |
25,407,381 (GRCm39) |
splice site |
probably null |
|
|
R3927:Unkl
|
UTSW |
17 |
25,448,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5164:Unkl
|
UTSW |
17 |
25,432,083 (GRCm39) |
splice site |
probably null |
|
|
R5481:Unkl
|
UTSW |
17 |
25,420,146 (GRCm39) |
nonsense |
probably null |
|
|
R5520:Unkl
|
UTSW |
17 |
25,424,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5559:Unkl
|
UTSW |
17 |
25,424,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6267:Unkl
|
UTSW |
17 |
25,450,839 (GRCm39) |
makesense |
probably null |
|
|
R6296:Unkl
|
UTSW |
17 |
25,450,839 (GRCm39) |
makesense |
probably null |
|
|
R6883:Unkl
|
UTSW |
17 |
25,449,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Unkl
|
UTSW |
17 |
25,418,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Unkl
|
UTSW |
17 |
25,437,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Unkl
|
UTSW |
17 |
25,437,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Unkl
|
UTSW |
17 |
25,450,689 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9170:Unkl
|
UTSW |
17 |
25,448,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9331:Unkl
|
UTSW |
17 |
25,450,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Unkl
|
UTSW |
17 |
25,448,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGTCTCCGAGTTGGGAAGTG -3'
(R):5'- AGGTTCCCTCTACAGGTAGTGGGTG -3'
Sequencing Primer
(F):5'- AGGATCGCTCAgtgtgtgtg -3'
(R):5'- catacacctttaatgccagcac -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation