Incidental Mutation 'R0563:Rnf40'
| ID |
46011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf40
|
| Ensembl Gene |
ENSMUSG00000030816 |
| Gene Name |
ring finger protein 40 |
| Synonyms |
|
| MMRRC Submission |
038754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R0563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127187870-127202777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127192048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 398
(L398P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033088]
[ENSMUST00000072155]
[ENSMUST00000205694]
[ENSMUST00000206914]
|
| AlphaFold |
Q3U319 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033088
AA Change: L358P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
AA Change: L358P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
55 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
189 |
209 |
N/A |
INTRINSIC |
|
coiled coil region
|
231 |
377 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
760 |
N/A |
INTRINSIC |
|
coiled coil region
|
800 |
839 |
N/A |
INTRINSIC |
|
RING
|
948 |
986 |
1.86e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072155
|
| SMART Domains |
Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
130 |
228 |
3.1e-37 |
PFAM |
|
low complexity region
|
243 |
274 |
N/A |
INTRINSIC |
|
coiled coil region
|
285 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205694
AA Change: L398P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206914
|
| Meta Mutation Damage Score |
0.7855 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,586,635 (GRCm39) |
P146T |
probably damaging |
Het |
| Ambn |
A |
C |
5: 88,611,309 (GRCm39) |
N163T |
probably benign |
Het |
| Ankrd36 |
A |
T |
11: 5,579,322 (GRCm39) |
E870D |
probably benign |
Het |
| Cdc123 |
T |
C |
2: 5,803,212 (GRCm39) |
N269S |
probably benign |
Het |
| Cdc7 |
A |
T |
5: 107,120,776 (GRCm39) |
|
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,762,738 (GRCm39) |
V402D |
possibly damaging |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Dcdc5 |
G |
A |
2: 106,180,035 (GRCm39) |
|
noncoding transcript |
Het |
| Eif4g3 |
T |
C |
4: 137,903,151 (GRCm39) |
|
probably benign |
Het |
| Elovl4 |
C |
T |
9: 83,667,087 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
T |
G |
4: 25,213,610 (GRCm39) |
I109L |
probably damaging |
Het |
| Gm16181 |
A |
G |
17: 35,442,872 (GRCm39) |
|
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,585,483 (GRCm39) |
Y287C |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,730,268 (GRCm39) |
C1720S |
probably benign |
Het |
| Gypa |
T |
A |
8: 81,236,089 (GRCm39) |
S165T |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,993,241 (GRCm39) |
D531G |
probably damaging |
Het |
| Hsf2bp |
A |
T |
17: 32,226,692 (GRCm39) |
L221Q |
probably damaging |
Het |
| Itsn1 |
A |
G |
16: 91,617,684 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,352,020 (GRCm39) |
E914G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,195,135 (GRCm39) |
N225S |
probably damaging |
Het |
| Lysmd4 |
T |
A |
7: 66,875,925 (GRCm39) |
L196Q |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,041,820 (GRCm39) |
C1245R |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,777 (GRCm39) |
K183R |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mindy2 |
T |
A |
9: 70,538,334 (GRCm39) |
I334L |
possibly damaging |
Het |
| Mrm1 |
A |
G |
11: 84,705,539 (GRCm39) |
S287P |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,234,056 (GRCm39) |
I382T |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,702,342 (GRCm39) |
T30A |
probably benign |
Het |
| Nelfe |
A |
G |
17: 35,073,215 (GRCm39) |
E250G |
possibly damaging |
Het |
| Nsd1 |
C |
A |
13: 55,394,391 (GRCm39) |
T767K |
possibly damaging |
Het |
| Or1i2 |
G |
A |
10: 78,448,467 (GRCm39) |
P3S |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,625,013 (GRCm39) |
K227* |
probably null |
Het |
| Or4e5 |
T |
A |
14: 52,727,714 (GRCm39) |
K236* |
probably null |
Het |
| Or5b111 |
A |
G |
19: 13,291,112 (GRCm39) |
I179T |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 81,964,718 (GRCm39) |
D295G |
probably damaging |
Het |
| Pex14 |
A |
G |
4: 149,046,003 (GRCm39) |
V309A |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,933,600 (GRCm39) |
|
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,573,333 (GRCm39) |
D399G |
possibly damaging |
Het |
| Prim1 |
A |
G |
10: 127,862,423 (GRCm39) |
D340G |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,454,207 (GRCm39) |
F564L |
probably damaging |
Het |
| Rcc1l |
G |
C |
5: 134,205,394 (GRCm39) |
R54G |
probably benign |
Het |
| Rnf151 |
G |
A |
17: 24,936,430 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
C |
T |
16: 72,769,174 (GRCm39) |
T531I |
probably benign |
Het |
| Rps6ka2 |
A |
T |
17: 7,521,836 (GRCm39) |
I198F |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,846,164 (GRCm39) |
L264P |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,734,869 (GRCm39) |
I281N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,935,921 (GRCm39) |
K2657N |
probably benign |
Het |
| Tor1aip1 |
G |
A |
1: 155,911,554 (GRCm39) |
T143M |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,284,609 (GRCm39) |
D358G |
probably benign |
Het |
| Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 32,019,792 (GRCm39) |
K488R |
possibly damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,997,915 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rnf40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02155:Rnf40
|
APN |
7 |
127,189,888 (GRCm39) |
splice site |
probably benign |
|
|
IGL02331:Rnf40
|
APN |
7 |
127,188,999 (GRCm39) |
missense |
probably benign |
|
|
IGL02626:Rnf40
|
APN |
7 |
127,195,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02867:Rnf40
|
APN |
7 |
127,190,601 (GRCm39) |
nonsense |
probably null |
|
|
IGL02889:Rnf40
|
APN |
7 |
127,190,601 (GRCm39) |
nonsense |
probably null |
|
|
IGL03353:Rnf40
|
APN |
7 |
127,192,063 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Rnf40
|
UTSW |
7 |
127,199,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Rnf40
|
UTSW |
7 |
127,199,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Rnf40
|
UTSW |
7 |
127,196,032 (GRCm39) |
splice site |
probably null |
|
|
R0554:Rnf40
|
UTSW |
7 |
127,201,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Rnf40
|
UTSW |
7 |
127,189,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1551:Rnf40
|
UTSW |
7 |
127,195,506 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1804:Rnf40
|
UTSW |
7 |
127,195,120 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1929:Rnf40
|
UTSW |
7 |
127,190,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2194:Rnf40
|
UTSW |
7 |
127,196,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2356:Rnf40
|
UTSW |
7 |
127,190,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4839:Rnf40
|
UTSW |
7 |
127,191,812 (GRCm39) |
nonsense |
probably null |
|
|
R5071:Rnf40
|
UTSW |
7 |
127,196,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Rnf40
|
UTSW |
7 |
127,196,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Rnf40
|
UTSW |
7 |
127,195,120 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5537:Rnf40
|
UTSW |
7 |
127,195,261 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5547:Rnf40
|
UTSW |
7 |
127,188,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5871:Rnf40
|
UTSW |
7 |
127,190,757 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6767:Rnf40
|
UTSW |
7 |
127,195,757 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6834:Rnf40
|
UTSW |
7 |
127,195,578 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6969:Rnf40
|
UTSW |
7 |
127,195,495 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6980:Rnf40
|
UTSW |
7 |
127,193,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Rnf40
|
UTSW |
7 |
127,189,047 (GRCm39) |
missense |
probably benign |
|
|
R8177:Rnf40
|
UTSW |
7 |
127,195,322 (GRCm39) |
missense |
probably benign |
|
|
R8719:Rnf40
|
UTSW |
7 |
127,191,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Rnf40
|
UTSW |
7 |
127,188,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Rnf40
|
UTSW |
7 |
127,196,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Rnf40
|
UTSW |
7 |
127,190,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Rnf40
|
UTSW |
7 |
127,188,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9337:Rnf40
|
UTSW |
7 |
127,188,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9462:Rnf40
|
UTSW |
7 |
127,191,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9464:Rnf40
|
UTSW |
7 |
127,190,954 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9469:Rnf40
|
UTSW |
7 |
127,195,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Rnf40
|
UTSW |
7 |
127,201,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Rnf40
|
UTSW |
7 |
127,201,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Rnf40
|
UTSW |
7 |
127,193,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGGACCAATGAGCGTCTCAAG -3'
(R):5'- GCCAAGGAACAATCTATGCCCAAGG -3'
Sequencing Primer
(F):5'- ATGAGCGTCTCAAGGTCGG -3'
(R):5'- TCTATGCCCAAGGGACTCTCAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation