Incidental Mutation 'R2216:Rnf112'
| ID |
241168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf112
|
| Ensembl Gene |
ENSMUSG00000010086 |
| Gene Name |
ring finger protein 112 |
| Synonyms |
Zfp179, 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 |
61448442-61454131 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61452279 bp (GRCm38)
|
| 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: 72,031,446 (GRCm38) |
P146T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 84,275,351 (GRCm38) |
T423S |
probably damaging |
Het |
| Bend5 |
A |
G |
4: 111,448,590 (GRCm38) |
N277S |
probably null |
Het |
| Cd22 |
G |
T |
7: 30,867,046 (GRCm38) |
T816N |
probably damaging |
Het |
| Cep126 |
G |
A |
9: 8,120,678 (GRCm38) |
R115C |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 134,131,430 (GRCm38) |
H710R |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,093,495 (GRCm38) |
L1695H |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,314,981 (GRCm38) |
V371A |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,027,339 (GRCm38) |
|
probably null |
Het |
| Cyp1a1 |
T |
A |
9: 57,702,069 (GRCm38) |
|
probably null |
Het |
| Dennd1c |
C |
T |
17: 57,074,492 (GRCm38) |
|
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,893,923 (GRCm38) |
V2033I |
probably benign |
Het |
| Dtna |
A |
G |
18: 23,569,565 (GRCm38) |
H51R |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,207,245 (GRCm38) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,593,661 (GRCm38) |
V945E |
probably benign |
Het |
| Gpbar1 |
C |
G |
1: 74,278,894 (GRCm38) |
L99V |
probably damaging |
Het |
| Hdac9 |
A |
T |
12: 34,429,517 (GRCm38) |
D212E |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 114,997,029 (GRCm38) |
D448E |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,467,866 (GRCm38) |
N75I |
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,228,586 (GRCm38) |
E117G |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,574,065 (GRCm38) |
R2349C |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,492,055 (GRCm38) |
N209S |
probably benign |
Het |
| Mybpc2 |
C |
T |
7: 44,512,500 (GRCm38) |
|
probably null |
Het |
| Myh15 |
C |
G |
16: 49,165,838 (GRCm38) |
S1557* |
probably null |
Het |
| Myo3a |
A |
C |
2: 22,577,771 (GRCm38) |
T346P |
probably benign |
Het |
| Nim1k |
A |
G |
13: 119,714,215 (GRCm38) |
Y152H |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,762,918 (GRCm38) |
R507* |
probably null |
Het |
| Or13n4 |
T |
A |
7: 106,823,998 (GRCm38) |
H176L |
probably damaging |
Het |
| Or5e1 |
C |
T |
7: 108,755,612 (GRCm38) |
T252M |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,857,205 (GRCm38) |
I798V |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 125,888,077 (GRCm38) |
A212T |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,573,895 (GRCm38) |
H3522L |
probably damaging |
Het |
| Pram1 |
C |
T |
17: 33,641,284 (GRCm38) |
A275V |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,910,060 (GRCm38) |
W169R |
probably damaging |
Het |
| Prkag1 |
A |
T |
15: 98,815,946 (GRCm38) |
M1K |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,113,593 (GRCm38) |
S276P |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,481,125 (GRCm38) |
V284D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,048,005 (GRCm38) |
D648G |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,513,085 (GRCm38) |
Y1138C |
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,485,612 (GRCm38) |
P2010Q |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,530,745 (GRCm38) |
H274R |
probably benign |
Het |
| Slc5a6 |
T |
G |
5: 31,039,335 (GRCm38) |
E391D |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,858,842 (GRCm38) |
Q32R |
possibly damaging |
Het |
| Tars1 |
A |
G |
15: 11,389,708 (GRCm38) |
V372A |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,337,268 (GRCm38) |
L1250Q |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,512,564 (GRCm38) |
Y222C |
probably benign |
Het |
| Trim40 |
T |
C |
17: 36,888,983 (GRCm38) |
I68V |
probably benign |
Het |
| Trp53tg5 |
T |
C |
2: 164,471,306 (GRCm38) |
I150V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,532,168 (GRCm38) |
V109A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,561,840 (GRCm38) |
D969E |
probably benign |
Het |
| Vil1 |
G |
T |
1: 74,425,679 (GRCm38) |
R495L |
probably benign |
Het |
| Wfs1 |
T |
A |
5: 36,967,220 (GRCm38) |
K700* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,707,403 (GRCm38) |
L298P |
probably damaging |
Het |
| Zfp946 |
A |
T |
17: 22,454,716 (GRCm38) |
Q150H |
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 |
|
IGL02102:Rnf112
|
APN |
11 |
61,452,015 (GRCm38) |
missense |
probably benign |
0.36 |
|
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 |
|
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 |
|
|
| 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 |
Incidental Mutation