Incidental Mutation 'R2880:Rnf112'
ID |
260286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf112
|
Ensembl Gene |
ENSMUSG00000010086 |
Gene Name |
ring finger protein 112 |
Synonyms |
Zfp179, neurolastin, bfp |
MMRRC Submission |
040468-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2880 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
61339268-61344957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61341293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 431
(H431Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054927]
[ENSMUST00000060255]
[ENSMUST00000102661]
|
AlphaFold |
Q96DY5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054927
AA Change: H406Y
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000056464 Gene: ENSMUSG00000010086 AA Change: H406Y
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 |
possibly damaging
Transcript: ENSMUST00000060255
AA Change: H431Y
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000059903 Gene: ENSMUSG00000010086 AA Change: H431Y
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 |
possibly damaging
Transcript: ENSMUST00000102661
AA Change: H383Y
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099722 Gene: ENSMUSG00000010086 AA Change: H383Y
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
Map3k14 |
C |
A |
11: 103,111,858 (GRCm39) |
R941L |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
Pak1 |
T |
A |
7: 97,554,018 (GRCm39) |
Y463N |
probably damaging |
Het |
Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
Slc25a30 |
A |
G |
14: 76,007,651 (GRCm39) |
V118A |
probably benign |
Het |
Slc4a7 |
T |
A |
14: 14,773,277 (GRCm38) |
I872K |
probably damaging |
Het |
Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably damaging |
Het |
Zbtb12 |
T |
A |
17: 35,114,455 (GRCm39) |
I80N |
probably damaging |
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 |
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'- GGGCTCCTCAGGAACTTTTCAC -3'
(R):5'- CAGAAGCTGTCCGGCAAATACC -3'
Sequencing Primer
(F):5'- CAGGAACTTTTCACACCTTGATC -3'
(R):5'- AGCTGCTCCTCGGGAAAC -3'
|
Posted On |
2015-01-23 |