Incidental Mutation 'R1366:Mkrn1'
| ID |
156038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkrn1
|
| Ensembl Gene |
ENSMUSG00000029922 |
| Gene Name |
makorin, ring finger protein, 1 |
| Synonyms |
|
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39374738-39397396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39382851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 134
(T134A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031985]
[ENSMUST00000051671]
[ENSMUST00000114822]
[ENSMUST00000114823]
[ENSMUST00000146785]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031985
AA Change: T120A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
55 |
81 |
3.86e-7 |
SMART |
|
ZnF_C3H1
|
85 |
110 |
8.27e-7 |
SMART |
|
low complexity region
|
122 |
142 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
208 |
234 |
1.13e-4 |
SMART |
|
RING
|
281 |
334 |
2.09e-7 |
SMART |
|
low complexity region
|
349 |
363 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
366 |
392 |
2.53e-2 |
SMART |
|
Pfam:MKRN1_C
|
400 |
479 |
9.1e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051671
AA Change: T120A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000084244
Gene: ENSMUSG00000029922
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
55 |
81 |
3.86e-7 |
SMART |
|
ZnF_C3H1
|
85 |
110 |
8.27e-7 |
SMART |
|
low complexity region
|
122 |
142 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
208 |
234 |
1.13e-4 |
SMART |
|
RING
|
281 |
328 |
4.72e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114822
AA Change: T120A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110470
Gene: ENSMUSG00000029922
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gkub1
|
2 |
30 |
3e-3 |
SMART |
|
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
55 |
81 |
3.86e-7 |
SMART |
|
ZnF_C3H1
|
85 |
110 |
8.27e-7 |
SMART |
|
low complexity region
|
122 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114823
AA Change: T56A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: T56A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
1 |
17 |
6.26e1 |
SMART |
|
ZnF_C3H1
|
21 |
46 |
8.27e-7 |
SMART |
|
low complexity region
|
58 |
78 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
144 |
170 |
1.13e-4 |
SMART |
|
RING
|
217 |
270 |
2.09e-7 |
SMART |
|
low complexity region
|
285 |
299 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
302 |
328 |
2.53e-2 |
SMART |
|
low complexity region
|
378 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122874
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122996
AA Change: T134A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000115231
Gene: ENSMUSG00000029922
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
75 |
96 |
4.11e-2 |
SMART |
|
ZnF_C3H1
|
100 |
125 |
8.27e-7 |
SMART |
|
low complexity region
|
137 |
157 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
223 |
249 |
1.13e-4 |
SMART |
|
RING
|
296 |
343 |
4.72e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146785
AA Change: T98A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123440
Gene: ENSMUSG00000029922
AA Change: T98A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
34 |
59 |
1.56e-2 |
SMART |
|
ZnF_C3H1
|
63 |
88 |
8.27e-7 |
SMART |
|
low complexity region
|
100 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150575
|
| SMART Domains |
Protein: ENSMUSP00000121563
Gene: ENSMUSG00000029922
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
52 |
105 |
2.09e-7 |
SMART |
|
low complexity region
|
170 |
191 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0684 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and fertile, and show normal kidney morphology, eyelid development, and skeletal morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
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 |
| Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
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 |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
| Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
probably damaging |
Het |
|
| Other mutations in Mkrn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01921:Mkrn1
|
APN |
6 |
39,382,847 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03235:Mkrn1
|
APN |
6 |
39,378,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Mkrn1
|
UTSW |
6 |
39,376,209 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0445:Mkrn1
|
UTSW |
6 |
39,381,788 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1109:Mkrn1
|
UTSW |
6 |
39,376,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Mkrn1
|
UTSW |
6 |
39,377,390 (GRCm39) |
missense |
probably null |
|
|
R2002:Mkrn1
|
UTSW |
6 |
39,382,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4671:Mkrn1
|
UTSW |
6 |
39,382,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Mkrn1
|
UTSW |
6 |
39,396,939 (GRCm39) |
unclassified |
probably benign |
|
|
R7948:Mkrn1
|
UTSW |
6 |
39,377,344 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8099:Mkrn1
|
UTSW |
6 |
39,387,031 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8192:Mkrn1
|
UTSW |
6 |
39,376,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Mkrn1
|
UTSW |
6 |
39,376,344 (GRCm39) |
nonsense |
probably null |
|
|
R9223:Mkrn1
|
UTSW |
6 |
39,378,183 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9260:Mkrn1
|
UTSW |
6 |
39,382,530 (GRCm39) |
unclassified |
probably benign |
|
|
R9554:Mkrn1
|
UTSW |
6 |
39,376,838 (GRCm39) |
missense |
probably benign |
0.06 |
|
RF016:Mkrn1
|
UTSW |
6 |
39,396,925 (GRCm39) |
missense |
|
|
|
Z1088:Mkrn1
|
UTSW |
6 |
39,377,390 (GRCm39) |
missense |
probably null |
|
|
Z1176:Mkrn1
|
UTSW |
6 |
39,377,390 (GRCm39) |
missense |
probably null |
|
|
Z1177:Mkrn1
|
UTSW |
6 |
39,377,390 (GRCm39) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAAACAGAAAAGGCTGACACTG -3'
(R):5'- GGAATAAGTCTTGACAGGTGCTCCC -3'
Sequencing Primer
(F):5'- TACTTACTACGGCCACAGTAGGG -3'
(R):5'- CTGCTCATGTTCACACTGAAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation