Incidental Mutation 'R6883:Unkl'
| ID |
536916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unkl
|
| Ensembl Gene |
ENSMUSG00000015127 |
| Gene Name |
unkempt family like zinc finger |
| Synonyms |
1300004G08Rik |
| MMRRC Submission |
044978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R6883 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25407371-25453417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25449307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 78
(A78V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015271]
[ENSMUST00000038973]
[ENSMUST00000039734]
[ENSMUST00000115154]
[ENSMUST00000160896]
[ENSMUST00000161679]
[ENSMUST00000162498]
|
| AlphaFold |
Q5FWH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015271
AA Change: A78V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000015271
Gene: ENSMUSG00000015127
AA Change: A78V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
73 |
154 |
N/A |
INTRINSIC |
|
RING
|
198 |
232 |
4.13e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038973
|
| SMART Domains |
Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
69 |
152 |
1.4e-10 |
PFAM |
|
DMAP_binding
|
176 |
278 |
2.55e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039734
AA Change: A566V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039670
Gene: ENSMUSG00000015127
AA Change: A566V
| 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: ENSMUST00000115154
|
| SMART Domains |
Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:PRKCSH
|
69 |
151 |
3.9e-11 |
PFAM |
|
DMAP_binding
|
183 |
285 |
2.55e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160896
AA Change: A380V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124276
Gene: ENSMUSG00000015127
AA Change: A380V
| 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 |
possibly damaging
Transcript: ENSMUST00000161679
AA Change: A70V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125294
Gene: ENSMUSG00000015127
AA Change: A70V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
9 |
N/A |
INTRINSIC |
|
low complexity region
|
15 |
31 |
N/A |
INTRINSIC |
|
coiled coil region
|
65 |
146 |
N/A |
INTRINSIC |
|
RING
|
190 |
224 |
4.13e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162498
|
| SMART Domains |
Protein: ENSMUSP00000124530
Gene: ENSMUSG00000015127
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
93 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
92% (45/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
G |
9: 118,985,728 (GRCm39) |
S66P |
possibly damaging |
Het |
| Adh7 |
A |
T |
3: 137,929,825 (GRCm39) |
E167V |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,859,992 (GRCm39) |
S705P |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,063,739 (GRCm39) |
V329A |
probably benign |
Het |
| Btla |
C |
T |
16: 45,063,092 (GRCm39) |
H152Y |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,465,883 (GRCm38) |
E1009G |
probably damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,507 (GRCm39) |
|
probably null |
Het |
| Cyp4a12a |
G |
T |
4: 115,159,221 (GRCm39) |
V164F |
probably damaging |
Het |
| Duox1 |
G |
T |
2: 122,155,065 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,260 (GRCm39) |
H1261L |
possibly damaging |
Het |
| Fmo6 |
A |
G |
1: 162,757,461 (GRCm39) |
I104T |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,576,172 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
C |
18: 21,262,769 (GRCm39) |
T682A |
probably benign |
Het |
| Gm49358 |
A |
G |
10: 86,651,762 (GRCm39) |
E188G |
probably benign |
Het |
| Gm5773 |
T |
C |
3: 93,681,162 (GRCm39) |
I278T |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,409,756 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
A |
C |
1: 87,627,412 (GRCm39) |
K308T |
probably damaging |
Het |
| Irf6 |
A |
T |
1: 192,849,774 (GRCm39) |
Y232F |
probably damaging |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,248 (GRCm39) |
Q60R |
probably benign |
Het |
| Klri2 |
T |
C |
6: 129,709,985 (GRCm39) |
D205G |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,492,110 (GRCm39) |
W352R |
probably damaging |
Het |
| Nat8 |
A |
G |
6: 85,807,650 (GRCm39) |
V161A |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,556 (GRCm39) |
M742K |
probably benign |
Het |
| Or10ag58 |
C |
A |
2: 87,265,623 (GRCm39) |
T264K |
probably damaging |
Het |
| Or13j1 |
T |
C |
4: 43,705,723 (GRCm39) |
T282A |
possibly damaging |
Het |
| Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,144,242 (GRCm39) |
D111V |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,198 (GRCm39) |
D373V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,560,396 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,983,453 (GRCm39) |
M52V |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,774,729 (GRCm39) |
E118G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,307 (GRCm39) |
S99G |
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Sim2 |
G |
T |
16: 93,926,395 (GRCm39) |
A540S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,767,403 (GRCm39) |
|
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,769,719 (GRCm39) |
V90A |
probably benign |
Het |
| Spns2 |
T |
C |
11: 72,347,196 (GRCm39) |
|
probably null |
Het |
| Syne1 |
G |
T |
10: 5,181,704 (GRCm39) |
C4210* |
probably null |
Het |
| Tek |
T |
C |
4: 94,725,426 (GRCm39) |
I564T |
possibly damaging |
Het |
| Tmem94 |
T |
G |
11: 115,687,287 (GRCm39) |
C1135W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,937,493 (GRCm39) |
D3827E |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,992 (GRCm39) |
D235G |
possibly damaging |
Het |
| Tuba4a |
A |
G |
1: 75,194,066 (GRCm39) |
S5P |
probably damaging |
Het |
| Uaca |
T |
A |
9: 60,777,173 (GRCm39) |
V518D |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,685,563 (GRCm39) |
Q2229L |
probably benign |
Het |
| Uroc1 |
C |
T |
6: 90,315,574 (GRCm39) |
Q152* |
probably null |
Het |
| Vmn2r51 |
G |
T |
7: 9,834,025 (GRCm39) |
Q338K |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,498,513 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
|
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'- GCAGGTGACTTACAGGGTAC -3'
(R):5'- ATCATACAGGAGACAGCCATGC -3'
Sequencing Primer
(F):5'- AGACATCTCAGCCCTTGGATG -3'
(R):5'- AGACAGCCATGCCTGGTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation