Incidental Mutation 'IGL02102:Rnf112'
| ID |
279775 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf112
|
| Ensembl Gene |
ENSMUSG00000010086 |
| Gene Name |
ring finger protein 112 |
| Synonyms |
Zfp179, bfp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61448442-61454131 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61452015 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 262
(K262E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054927]
[ENSMUST00000060255]
[ENSMUST00000102661]
|
| AlphaFold |
Q96DY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054927
AA Change: K262E
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: K262E
| 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 benign
Transcript: ENSMUST00000060255
AA Change: K262E
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: K262E
| 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 benign
Transcript: ENSMUST00000102661
AA Change: K239E
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: K239E
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,777,439 (GRCm38) |
T1338A |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,134,699 (GRCm38) |
C125Y |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,905,962 (GRCm38) |
K257N |
probably damaging |
Het |
| Apob |
T |
C |
12: 7,989,407 (GRCm38) |
V497A |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,364,167 (GRCm38) |
V684D |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,589,691 (GRCm38) |
W763R |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,469,756 (GRCm38) |
T1026M |
probably damaging |
Het |
| Cd160 |
A |
G |
3: 96,805,570 (GRCm38) |
I126T |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 5,380,083 (GRCm38) |
K15E |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,091,659 (GRCm38) |
K261R |
probably damaging |
Het |
| Cyp3a13 |
T |
G |
5: 137,911,603 (GRCm38) |
T153P |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,408,484 (GRCm38) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,662,247 (GRCm38) |
T1288I |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,229,009 (GRCm38) |
V322A |
possibly damaging |
Het |
| Dnajc25 |
T |
A |
4: 59,017,693 (GRCm38) |
Y117* |
probably null |
Het |
| Dsg1a |
A |
G |
18: 20,332,032 (GRCm38) |
N427D |
probably benign |
Het |
| Gabrq |
T |
G |
X: 72,827,545 (GRCm38) |
|
probably null |
Het |
| Glce |
A |
G |
9: 62,070,601 (GRCm38) |
|
probably benign |
Het |
| Gm10477 |
T |
C |
X: 56,525,401 (GRCm38) |
L45P |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,891,481 (GRCm38) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,033,130 (GRCm38) |
E317G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,159,086 (GRCm38) |
M827T |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,220,222 (GRCm38) |
V932A |
probably damaging |
Het |
| Mdm2 |
A |
C |
10: 117,692,717 (GRCm38) |
S227R |
possibly damaging |
Het |
| Olfr1216 |
A |
G |
2: 89,013,126 (GRCm38) |
|
probably benign |
Het |
| Olfr153 |
T |
C |
2: 87,532,461 (GRCm38) |
F143L |
probably benign |
Het |
| Olfr305 |
T |
C |
7: 86,363,866 (GRCm38) |
Y157C |
probably benign |
Het |
| Olfr995 |
A |
G |
2: 85,438,267 (GRCm38) |
V297A |
probably damaging |
Het |
| Olfr996 |
G |
A |
2: 85,579,673 (GRCm38) |
V145I |
probably damaging |
Het |
| Pdilt |
T |
G |
7: 119,486,950 (GRCm38) |
E514A |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,945,603 (GRCm38) |
D153G |
probably damaging |
Het |
| Ptgis |
A |
T |
2: 167,225,447 (GRCm38) |
V70E |
probably damaging |
Het |
| Setd5 |
G |
T |
6: 113,150,985 (GRCm38) |
G1300* |
probably null |
Het |
| Snx15 |
A |
G |
19: 6,122,074 (GRCm38) |
L113P |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,137,427 (GRCm38) |
D1004G |
probably damaging |
Het |
| Ston2 |
A |
C |
12: 91,639,724 (GRCm38) |
*896G |
probably null |
Het |
| Suco |
A |
G |
1: 161,827,705 (GRCm38) |
S1073P |
probably damaging |
Het |
| Susd1 |
A |
C |
4: 59,369,636 (GRCm38) |
D344E |
possibly damaging |
Het |
| Trnt1 |
G |
T |
6: 106,778,112 (GRCm38) |
|
probably null |
Het |
| Ttll12 |
A |
G |
15: 83,582,063 (GRCm38) |
F399S |
probably damaging |
Het |
| Vmn1r124 |
C |
T |
7: 21,260,542 (GRCm38) |
V26I |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,179,207 (GRCm38) |
N164K |
possibly damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,196,336 (GRCm38) |
M94K |
possibly damaging |
Het |
| Vmn1r80 |
T |
C |
7: 12,193,691 (GRCm38) |
F243L |
probably damaging |
Het |
| Zdhhc8 |
G |
A |
16: 18,225,199 (GRCm38) |
S379F |
possibly damaging |
Het |
|
| Other mutations in Rnf112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Rnf112
|
APN |
11 |
61,452,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01339:Rnf112
|
APN |
11 |
61,450,477 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01469:Rnf112
|
APN |
11 |
61,451,341 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02216:Rnf112
|
APN |
11 |
61,449,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02431:Rnf112
|
APN |
11 |
61,450,379 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02638:Rnf112
|
APN |
11 |
61,449,405 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02657:Rnf112
|
APN |
11 |
61,450,252 (GRCm38) |
splice site |
probably null |
|
|
R0041:Rnf112
|
UTSW |
11 |
61,452,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Rnf112
|
UTSW |
11 |
61,450,410 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1991:Rnf112
|
UTSW |
11 |
61,452,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2119:Rnf112
|
UTSW |
11 |
61,451,028 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2216:Rnf112
|
UTSW |
11 |
61,452,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2880:Rnf112
|
UTSW |
11 |
61,450,467 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R3775:Rnf112
|
UTSW |
11 |
61,450,185 (GRCm38) |
splice site |
probably benign |
|
|
R3904:Rnf112
|
UTSW |
11 |
61,450,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4646:Rnf112
|
UTSW |
11 |
61,452,110 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4710:Rnf112
|
UTSW |
11 |
61,449,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4860:Rnf112
|
UTSW |
11 |
61,452,744 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4860:Rnf112
|
UTSW |
11 |
61,452,744 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4894:Rnf112
|
UTSW |
11 |
61,452,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4930:Rnf112
|
UTSW |
11 |
61,453,465 (GRCm38) |
missense |
probably benign |
|
|
R4967:Rnf112
|
UTSW |
11 |
61,452,926 (GRCm38) |
splice site |
probably benign |
|
|
R4992:Rnf112
|
UTSW |
11 |
61,452,711 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5547:Rnf112
|
UTSW |
11 |
61,451,028 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5874:Rnf112
|
UTSW |
11 |
61,449,447 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5997:Rnf112
|
UTSW |
11 |
61,451,022 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6023:Rnf112
|
UTSW |
11 |
61,449,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6906:Rnf112
|
UTSW |
11 |
61,450,389 (GRCm38) |
missense |
probably null |
0.38 |
|
R7194:Rnf112
|
UTSW |
11 |
61,450,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7439:Rnf112
|
UTSW |
11 |
61,451,028 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7984:Rnf112
|
UTSW |
11 |
61,449,480 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R8984:Rnf112
|
UTSW |
11 |
61,452,451 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9756:Rnf112
|
UTSW |
11 |
61,449,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Rnf112
|
UTSW |
11 |
61,449,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1186:Rnf112
|
UTSW |
11 |
61,450,949 (GRCm38) |
missense |
unknown |
|
|
Z1187:Rnf112
|
UTSW |
11 |
61,450,949 (GRCm38) |
missense |
unknown |
|
|
Z1188:Rnf112
|
UTSW |
11 |
61,450,949 (GRCm38) |
missense |
unknown |
|
|
Z1189:Rnf112
|
UTSW |
11 |
61,450,949 (GRCm38) |
missense |
unknown |
|
|
Z1190:Rnf112
|
UTSW |
11 |
61,450,949 (GRCm38) |
missense |
unknown |
|
|
Z1191:Rnf112
|
UTSW |
11 |
61,450,949 (GRCm38) |
missense |
unknown |
|
|
Z1192:Rnf112
|
UTSW |
11 |
61,450,949 (GRCm38) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation