Incidental Mutation 'R0041:Rnf112'
| ID |
64710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf112
|
| Ensembl Gene |
ENSMUSG00000010086 |
| Gene Name |
ring finger protein 112 |
| Synonyms |
Zfp179, neurolastin, bfp |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61339268-61344957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61343181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 165
(R165W)
|
| 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: R188W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: R188W
| 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: R188W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: R188W
| 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: R165W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: R165W
| 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 |
0.1109 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (58/60) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
| AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
| Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
| Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
| Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
| Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
| Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
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 |
|
|
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 |
|
R6023:Rnf112
|
UTSW |
11 |
61,340,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCCGCTGTCACCAGATTCCTAAAG -3'
(R):5'- ATGCTGTCCTGAATGCCGGAAG -3'
Sequencing Primer
(F):5'- AAGGTATCAGGCGGTCCTTTTC -3'
(R):5'- TACTCTATACTGTCCAGCAGGGG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation