Incidental Mutation 'R5520:Unkl'
| ID |
431522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unkl
|
| Ensembl Gene |
ENSMUSG00000015127 |
| Gene Name |
unkempt family like zinc finger |
| Synonyms |
1300004G08Rik |
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25407371-25453417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25424584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 204
(V204I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039734]
[ENSMUST00000160785]
[ENSMUST00000160896]
|
| AlphaFold |
Q5FWH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039734
AA Change: V204I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: V204I
| 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: ENSMUST00000160785
|
| SMART Domains |
Protein: ENSMUSP00000124121
Gene: ENSMUSG00000015127
| 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 |
possibly damaging
Transcript: ENSMUST00000160896
AA Change: V18I
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127
AA Change: V18I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly damaging |
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 |
|
|
R1364:Unkl
|
UTSW |
17 |
25,408,597 (GRCm39) |
missense |
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 |
|
|
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'- GCAGTCCACAGTACAGTAGC -3'
(R):5'- CCAGTGGCTACAGCAGAGTATC -3'
Sequencing Primer
(F):5'- AGTAGCTCTGGCCCTTCC -3'
(R):5'- AGTATCTCTCTAGAGCCGGAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation