Incidental Mutation 'R2216:Rnf112'
ID |
241168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf112
|
Ensembl Gene |
ENSMUSG00000010086 |
Gene Name |
ring finger protein 112 |
Synonyms |
Zfp179, neurolastin, bfp |
MMRRC Submission |
040218-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2216 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
61339268-61344957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61343105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 190
(L190P)
|
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: L213P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056464 Gene: ENSMUSG00000010086 AA Change: L213P
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: L213P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059903 Gene: ENSMUSG00000010086 AA Change: L213P
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: L190P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099722 Gene: ENSMUSG00000010086 AA Change: L190P
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,858,741 (GRCm39) |
H710R |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
Dtna |
A |
G |
18: 23,702,622 (GRCm39) |
H51R |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,479,516 (GRCm39) |
D212E |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
Mybpc2 |
C |
T |
7: 44,161,924 (GRCm39) |
|
probably null |
Het |
Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
Slc4a9 |
A |
G |
18: 36,663,798 (GRCm39) |
H274R |
probably benign |
Het |
Slc5a6 |
T |
G |
5: 31,196,679 (GRCm39) |
E391D |
possibly damaging |
Het |
Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,611,908 (GRCm39) |
D969E |
probably benign |
Het |
Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
possibly 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 |
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'- GGTGACTCCACATCCAGATACC -3'
(R):5'- AGAACGTCTGCTGTTGGTACG -3'
Sequencing Primer
(F):5'- TCTGATCCCAGGCAGAGAC -3'
(R):5'- GTTGGTACGAATCAATGCCTCCG -3'
|
Posted On |
2014-10-15 |