Incidental Mutation 'R8268:Mkrn3'
| ID |
639536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkrn3
|
| Ensembl Gene |
ENSMUSG00000070527 |
| Gene Name |
makorin, ring finger protein, 3 |
| Synonyms |
D7H15S9-1, Zfp127 |
| MMRRC Submission |
067692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
62067341-62069887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62068270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 507
(L507P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094340]
|
| AlphaFold |
Q60764 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094340
AA Change: L507P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527
AA Change: L507P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
92 |
118 |
7.31e-8 |
SMART |
|
low complexity region
|
156 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
220 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
275 |
300 |
3.95e-4 |
SMART |
|
RING
|
347 |
400 |
5.14e-7 |
SMART |
|
low complexity region
|
415 |
422 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
432 |
458 |
1.16e-1 |
SMART |
|
Pfam:MKRN1_C
|
467 |
542 |
1.3e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,909,961 (GRCm39) |
C396S |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Ciapin1 |
A |
G |
8: 95,558,511 (GRCm39) |
V67A |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,802,057 (GRCm39) |
R2018G |
unknown |
Het |
| Dnah11 |
A |
T |
12: 117,991,243 (GRCm39) |
Y2374* |
probably null |
Het |
| Dnah7b |
G |
T |
1: 46,395,736 (GRCm39) |
M3879I |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Gm12258 |
A |
C |
11: 58,745,084 (GRCm39) |
|
probably null |
Het |
| Hpse |
A |
G |
5: 100,846,907 (GRCm39) |
L174S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,714,448 (GRCm39) |
K248R |
probably damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,450,954 (GRCm39) |
R744S |
probably damaging |
Het |
| Klhl32 |
G |
A |
4: 24,800,843 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
G |
8: 15,179,157 (GRCm39) |
F1330V |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,216,659 (GRCm38) |
S170P |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,186,407 (GRCm39) |
D388G |
probably damaging |
Het |
| Or12e9 |
C |
A |
2: 87,202,332 (GRCm39) |
A152E |
probably damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,430 (GRCm39) |
D204G |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
| Or7a36 |
T |
A |
10: 78,819,831 (GRCm39) |
V69E |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,486,509 (GRCm39) |
S721T |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,587,192 (GRCm39) |
L323P |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,993,263 (GRCm39) |
I742L |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,254,750 (GRCm39) |
S302G |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,126,651 (GRCm39) |
|
probably null |
Het |
| Sh3bgr |
A |
G |
16: 96,025,674 (GRCm39) |
T187A |
unknown |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,033 (GRCm39) |
R923H |
probably benign |
Het |
| Slc26a10 |
A |
G |
10: 127,009,491 (GRCm39) |
|
probably null |
Het |
| Slc9a1 |
T |
A |
4: 133,097,934 (GRCm39) |
V27E |
probably benign |
Het |
| Stard3nl |
A |
G |
13: 19,560,629 (GRCm39) |
S49P |
probably damaging |
Het |
| Stxbp2 |
G |
A |
8: 3,682,234 (GRCm39) |
V17I |
|
Het |
| Themis3 |
C |
T |
17: 66,862,786 (GRCm39) |
E391K |
probably benign |
Het |
| Tia1 |
A |
G |
6: 86,404,996 (GRCm39) |
|
probably benign |
Het |
| Tmem167 |
T |
C |
13: 90,252,554 (GRCm39) |
F70S |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,851,225 (GRCm39) |
Q1729K |
possibly damaging |
Het |
| Tsc2 |
A |
C |
17: 24,818,984 (GRCm39) |
L1285W |
probably benign |
Het |
| Uchl4 |
A |
T |
9: 64,142,791 (GRCm39) |
I91F |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,089,476 (GRCm39) |
A573T |
probably damaging |
Het |
| Zc2hc1c |
C |
T |
12: 85,336,595 (GRCm39) |
S84F |
probably benign |
Het |
| Zfp143 |
A |
G |
7: 109,690,991 (GRCm39) |
D515G |
probably benign |
Het |
|
| Other mutations in Mkrn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0558:Mkrn3
|
UTSW |
7 |
62,068,612 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1885:Mkrn3
|
UTSW |
7 |
62,068,486 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1886:Mkrn3
|
UTSW |
7 |
62,068,486 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2904:Mkrn3
|
UTSW |
7 |
62,068,207 (GRCm39) |
missense |
probably benign |
0.38 |
|
R3117:Mkrn3
|
UTSW |
7 |
62,068,962 (GRCm39) |
small deletion |
probably benign |
|
|
R3118:Mkrn3
|
UTSW |
7 |
62,068,962 (GRCm39) |
small deletion |
probably benign |
|
|
R4593:Mkrn3
|
UTSW |
7 |
62,068,552 (GRCm39) |
nonsense |
probably null |
|
|
R4654:Mkrn3
|
UTSW |
7 |
62,069,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Mkrn3
|
UTSW |
7 |
62,069,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Mkrn3
|
UTSW |
7 |
62,068,735 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5932:Mkrn3
|
UTSW |
7 |
62,068,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Mkrn3
|
UTSW |
7 |
62,069,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Mkrn3
|
UTSW |
7 |
62,069,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6618:Mkrn3
|
UTSW |
7 |
62,068,781 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6951:Mkrn3
|
UTSW |
7 |
62,068,881 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7009:Mkrn3
|
UTSW |
7 |
62,069,366 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7227:Mkrn3
|
UTSW |
7 |
62,069,415 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7228:Mkrn3
|
UTSW |
7 |
62,069,415 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7286:Mkrn3
|
UTSW |
7 |
62,068,675 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7339:Mkrn3
|
UTSW |
7 |
62,069,530 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8366:Mkrn3
|
UTSW |
7 |
62,069,543 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9390:Mkrn3
|
UTSW |
7 |
62,069,288 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0025:Mkrn3
|
UTSW |
7 |
62,069,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mkrn3
|
UTSW |
7 |
62,069,558 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTTGAAAGCGATAGGG -3'
(R):5'- ACTGCCCATTTGGAGAATTCTG -3'
Sequencing Primer
(F):5'- GAAAGCGATAGGGTTTTTCAGTC -3'
(R):5'- GTTTTTACAAGCATGAATACCCCGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation