Incidental Mutation 'R5559:Unkl'
| ID |
436479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unkl
|
| Ensembl Gene |
ENSMUSG00000015127 |
| Gene Name |
unkempt family like zinc finger |
| Synonyms |
1300004G08Rik |
| MMRRC Submission |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
154 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25407371-25453417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25424687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 52
(N52S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039734]
[ENSMUST00000160785]
[ENSMUST00000160896]
|
| AlphaFold |
Q5FWH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039734
AA Change: N238S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: N238S
| 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 |
probably benign
Transcript: ENSMUST00000160896
AA Change: N52S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127
AA Change: N52S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162838
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
probably 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 |
|
|
R5520:Unkl
|
UTSW |
17 |
25,424,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAACCACGGTTGCTTACCTACTC -3'
(R):5'- TCTGTCAGGTAAAGGGAGGC -3'
Sequencing Primer
(F):5'- ACGGTTGCTTACCTACTCAGTGG -3'
(R):5'- TCAGGTAAAGGGAGGCAGCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation