Incidental Mutation 'R6023:Rnf112'
ID |
479050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf112
|
Ensembl Gene |
ENSMUSG00000010086 |
Gene Name |
ring finger protein 112 |
Synonyms |
Zfp179, neurolastin, bfp |
MMRRC Submission |
044195-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6023 (G1)
|
Quality Score |
199.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61339268-61344957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61340555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 525
(E525V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054927]
[ENSMUST00000060255]
[ENSMUST00000102661]
|
AlphaFold |
Q96DY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054927
AA Change: E548V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056464 Gene: ENSMUSG00000010086 AA Change: E548V
Domain | Start | End | E-Value | Type |
RING
|
80 |
120 |
3.78e-5 |
SMART |
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
Pfam:GBP
|
171 |
423 |
1.3e-21 |
PFAM |
low complexity region
|
541 |
557 |
N/A |
INTRINSIC |
transmembrane domain
|
570 |
592 |
N/A |
INTRINSIC |
transmembrane domain
|
605 |
627 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060255
AA Change: E573V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000059903 Gene: ENSMUSG00000010086 AA Change: E573V
Domain | Start | End | E-Value | Type |
RING
|
80 |
120 |
3.78e-5 |
SMART |
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
Pfam:GBP
|
171 |
448 |
2.8e-21 |
PFAM |
low complexity region
|
566 |
582 |
N/A |
INTRINSIC |
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
transmembrane domain
|
630 |
652 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102661
AA Change: E525V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099722 Gene: ENSMUSG00000010086 AA Change: E525V
Domain | Start | End | E-Value | Type |
RING
|
57 |
97 |
1.7e-7 |
SMART |
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
Pfam:GBP
|
148 |
400 |
2.7e-19 |
PFAM |
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
transmembrane domain
|
547 |
569 |
N/A |
INTRINSIC |
transmembrane domain
|
582 |
604 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136966
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152137
|
Meta Mutation Damage Score |
0.1762 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced dendritic spines, functional synapses and paired pulse facilitation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,757,843 (GRCm39) |
N1302S |
possibly damaging |
Het |
Aff3 |
A |
T |
1: 38,257,451 (GRCm39) |
S424T |
probably damaging |
Het |
Ap2b1 |
C |
T |
11: 83,226,224 (GRCm39) |
T207M |
probably damaging |
Het |
Appl2 |
T |
C |
10: 83,484,393 (GRCm39) |
Q18R |
probably null |
Het |
Atrn |
T |
C |
2: 130,862,900 (GRCm39) |
F1327L |
probably benign |
Het |
Birc6 |
A |
T |
17: 74,961,372 (GRCm39) |
I47F |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,301,321 (GRCm39) |
I451N |
probably damaging |
Het |
Clec3a |
A |
G |
8: 115,144,883 (GRCm39) |
T20A |
possibly damaging |
Het |
Cpz |
T |
A |
5: 35,669,922 (GRCm39) |
I252F |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,913,433 (GRCm39) |
D143G |
probably benign |
Het |
Dhrs1 |
A |
T |
14: 55,981,127 (GRCm39) |
Y94* |
probably null |
Het |
Dnajc25 |
A |
G |
4: 59,013,752 (GRCm39) |
K157E |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,928,545 (GRCm39) |
I789T |
probably damaging |
Het |
Duox1 |
T |
G |
2: 122,168,165 (GRCm39) |
F1097V |
probably benign |
Het |
Ercc8 |
A |
G |
13: 108,315,111 (GRCm39) |
T242A |
probably damaging |
Het |
Evc2 |
T |
A |
5: 37,505,960 (GRCm39) |
M93K |
probably benign |
Het |
Glra1 |
A |
T |
11: 55,424,679 (GRCm39) |
V94E |
probably damaging |
Het |
Got1l1 |
A |
T |
8: 27,689,932 (GRCm39) |
Y151* |
probably null |
Het |
Hcrtr2 |
T |
A |
9: 76,137,886 (GRCm39) |
I410F |
probably benign |
Het |
Ighv1-72 |
T |
A |
12: 115,721,532 (GRCm39) |
|
probably benign |
Het |
Kel |
C |
A |
6: 41,674,409 (GRCm39) |
E340D |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,379,158 (GRCm39) |
E283G |
probably damaging |
Het |
Klk4 |
T |
G |
7: 43,533,482 (GRCm39) |
F114V |
probably benign |
Het |
Krt7 |
T |
C |
15: 101,310,278 (GRCm39) |
|
probably benign |
Het |
Lrrc74a |
A |
G |
12: 86,805,380 (GRCm39) |
I401V |
probably damaging |
Het |
Luzp2 |
T |
C |
7: 54,707,815 (GRCm39) |
S68P |
possibly damaging |
Het |
Naip1 |
T |
C |
13: 100,562,694 (GRCm39) |
T824A |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,659,376 (GRCm39) |
Q747R |
possibly damaging |
Het |
Or13p4 |
T |
A |
4: 118,547,271 (GRCm39) |
Y126F |
probably damaging |
Het |
Or1j11 |
A |
G |
2: 36,311,523 (GRCm39) |
T38A |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,059 (GRCm39) |
D83G |
possibly damaging |
Het |
Or51f1 |
T |
C |
7: 102,506,169 (GRCm39) |
I107V |
possibly damaging |
Het |
Or52h2 |
T |
C |
7: 103,838,880 (GRCm39) |
H178R |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,067 (GRCm39) |
D120G |
probably damaging |
Het |
Or7g22 |
A |
C |
9: 19,049,021 (GRCm39) |
H244P |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,555,978 (GRCm39) |
I436T |
possibly damaging |
Het |
Pfdn2 |
T |
C |
1: 171,184,319 (GRCm39) |
Y65H |
probably damaging |
Het |
Polr2h |
T |
C |
16: 20,537,776 (GRCm39) |
Y58H |
probably benign |
Het |
Prrt4 |
G |
A |
6: 29,176,452 (GRCm39) |
P291L |
probably benign |
Het |
Psg29 |
G |
T |
7: 16,944,437 (GRCm39) |
V316L |
possibly damaging |
Het |
Sgms1 |
T |
C |
19: 32,101,773 (GRCm39) |
K411R |
probably benign |
Het |
Sh3tc1 |
T |
A |
5: 35,864,295 (GRCm39) |
K631* |
probably null |
Het |
Syne1 |
T |
C |
10: 5,393,223 (GRCm39) |
M48V |
probably benign |
Het |
Thrb |
C |
T |
14: 18,011,209 (GRCm38) |
T226I |
probably damaging |
Het |
Trim67 |
A |
T |
8: 125,541,843 (GRCm39) |
D347V |
probably damaging |
Het |
Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,565,744 (GRCm39) |
L19876I |
probably damaging |
Het |
Vars1 |
C |
T |
17: 35,220,585 (GRCm39) |
R56C |
probably damaging |
Het |
Vmn1r9 |
A |
G |
6: 57,048,239 (GRCm39) |
I105V |
probably benign |
Het |
Vps8 |
C |
A |
16: 21,279,988 (GRCm39) |
T313K |
probably benign |
Het |
|
Other mutations in Rnf112 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Rnf112
|
APN |
11 |
61,343,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01339:Rnf112
|
APN |
11 |
61,341,303 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01469:Rnf112
|
APN |
11 |
61,342,167 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02102:Rnf112
|
APN |
11 |
61,342,841 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02216:Rnf112
|
APN |
11 |
61,340,804 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02431:Rnf112
|
APN |
11 |
61,341,205 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02638:Rnf112
|
APN |
11 |
61,340,231 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02657:Rnf112
|
APN |
11 |
61,341,078 (GRCm39) |
splice site |
probably null |
|
R0041:Rnf112
|
UTSW |
11 |
61,343,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Rnf112
|
UTSW |
11 |
61,341,236 (GRCm39) |
missense |
probably benign |
0.01 |
R1991:Rnf112
|
UTSW |
11 |
61,343,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R2119:Rnf112
|
UTSW |
11 |
61,341,854 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2216:Rnf112
|
UTSW |
11 |
61,343,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R2880:Rnf112
|
UTSW |
11 |
61,341,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3775:Rnf112
|
UTSW |
11 |
61,341,011 (GRCm39) |
splice site |
probably benign |
|
R3904:Rnf112
|
UTSW |
11 |
61,341,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Rnf112
|
UTSW |
11 |
61,342,936 (GRCm39) |
missense |
probably damaging |
0.99 |
R4710:Rnf112
|
UTSW |
11 |
61,340,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Rnf112
|
UTSW |
11 |
61,343,570 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4860:Rnf112
|
UTSW |
11 |
61,343,570 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4894:Rnf112
|
UTSW |
11 |
61,343,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R4930:Rnf112
|
UTSW |
11 |
61,344,291 (GRCm39) |
missense |
probably benign |
|
R4967:Rnf112
|
UTSW |
11 |
61,343,752 (GRCm39) |
splice site |
probably benign |
|
R4992:Rnf112
|
UTSW |
11 |
61,343,537 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5547:Rnf112
|
UTSW |
11 |
61,341,854 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5874:Rnf112
|
UTSW |
11 |
61,340,273 (GRCm39) |
missense |
probably damaging |
0.98 |
R5997:Rnf112
|
UTSW |
11 |
61,341,848 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6906:Rnf112
|
UTSW |
11 |
61,341,215 (GRCm39) |
missense |
probably null |
0.38 |
R7194:Rnf112
|
UTSW |
11 |
61,341,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7439:Rnf112
|
UTSW |
11 |
61,341,854 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7984:Rnf112
|
UTSW |
11 |
61,340,306 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8984:Rnf112
|
UTSW |
11 |
61,343,277 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9756:Rnf112
|
UTSW |
11 |
61,340,667 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rnf112
|
UTSW |
11 |
61,340,505 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Rnf112
|
UTSW |
11 |
61,341,775 (GRCm39) |
missense |
unknown |
|
Z1187:Rnf112
|
UTSW |
11 |
61,341,775 (GRCm39) |
missense |
unknown |
|
Z1188:Rnf112
|
UTSW |
11 |
61,341,775 (GRCm39) |
missense |
unknown |
|
Z1189:Rnf112
|
UTSW |
11 |
61,341,775 (GRCm39) |
missense |
unknown |
|
Z1190:Rnf112
|
UTSW |
11 |
61,341,775 (GRCm39) |
missense |
unknown |
|
Z1191:Rnf112
|
UTSW |
11 |
61,341,775 (GRCm39) |
missense |
unknown |
|
Z1192:Rnf112
|
UTSW |
11 |
61,341,775 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTCCATGCAGCCCACAG -3'
(R):5'- TTCGAGGAGTACGTGAGACAGC -3'
Sequencing Primer
(F):5'- GCCCCAGCTGCTACCATC -3'
(R):5'- TGAGACAGCAGGTGAGCCTC -3'
|
Posted On |
2017-06-26 |