Incidental Mutation 'R3775:Rnf112'
| ID |
273555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf112
|
| Ensembl Gene |
ENSMUSG00000010086 |
| Gene Name |
ring finger protein 112 |
| Synonyms |
Zfp179, neurolastin, bfp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61339268-61344957 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 61341011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054927]
[ENSMUST00000060255]
[ENSMUST00000102661]
|
| AlphaFold |
Q96DY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054927
|
| SMART Domains |
Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
| 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
|
| SMART Domains |
Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or13p3 |
C |
T |
4: 118,567,351 (GRCm39) |
T249I |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
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 |
|
R2880:Rnf112
|
UTSW |
11 |
61,341,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- CTTTCCTCAGATCATGGAGCTG -3'
(R):5'- ACATCTTGGACGTGCTGAGC -3'
Sequencing Primer
(F):5'- TGAGCAGCCATCTGTCCACAG -3'
(R):5'- CTAAGAGCCGCTGTCAAGGGTAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation