Incidental Mutation 'R4617:Rnf10'
| ID |
351108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf10
|
| Ensembl Gene |
ENSMUSG00000041740 |
| Gene Name |
ring finger protein 10 |
| Synonyms |
|
| MMRRC Submission |
041828-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.700)
|
| Stock # |
R4617 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
115379829-115410980 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115386762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 508
(Q508L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040555]
[ENSMUST00000112096]
[ENSMUST00000112097]
[ENSMUST00000135455]
|
| AlphaFold |
Q3UIW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040555
AA Change: Q508L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041778
Gene: ENSMUSG00000041740
AA Change: Q508L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
RING
|
225 |
266 |
1.98e-8 |
SMART |
|
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
792 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112096
AA Change: Q508L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107725
Gene: ENSMUSG00000041740
AA Change: Q508L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
RING
|
225 |
266 |
1.98e-8 |
SMART |
|
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
671 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112097
AA Change: Q509L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107726
Gene: ENSMUSG00000041740
AA Change: Q509L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
RING
|
225 |
266 |
1.98e-8 |
SMART |
|
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135455
|
| SMART Domains |
Protein: ENSMUSP00000118408
Gene: ENSMUSG00000060152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_P_Rpp14
|
7 |
117 |
3.7e-31 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139853
AA Change: Q470L
|
| SMART Domains |
Protein: ENSMUSP00000131696
Gene: ENSMUSG00000041740
AA Change: Q470L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
RING
|
188 |
229 |
1.98e-8 |
SMART |
|
low complexity region
|
342 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151085
|
| Meta Mutation Damage Score |
0.5809 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (66/69) |
| MGI Phenotype |
FUNCTION: The protein encoding this gene is a member of the really interesting new gene finger protein family. Members of this family contain protein motifs similar to zinc finger domains and are involved in many processes that include transcriptional regulation, DNA repair and signal transduction. Expression of this gene is upregulated during neuronal differentiation of cultured cells, and inhibition of its expression impairs differentiation and cell cycle exit, providing evidence for a function in neuronal differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
| Acaa1a |
T |
A |
9: 119,178,006 (GRCm39) |
S279R |
probably damaging |
Het |
| Akr1cl |
A |
G |
1: 65,060,550 (GRCm39) |
C156R |
probably damaging |
Het |
| Arhgap11a |
G |
A |
2: 113,664,423 (GRCm39) |
T620M |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,681,198 (GRCm39) |
I444T |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,394,913 (GRCm39) |
I760V |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,102,435 (GRCm39) |
|
probably benign |
Het |
| Cpd |
A |
G |
11: 76,731,441 (GRCm39) |
L255P |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,144,845 (GRCm39) |
Y670H |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,620,643 (GRCm39) |
M458I |
probably benign |
Het |
| Dot1l |
T |
C |
10: 80,620,918 (GRCm39) |
I563T |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,484,442 (GRCm39) |
S1001T |
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,957,764 (GRCm39) |
Y256C |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,839,139 (GRCm39) |
T725I |
probably benign |
Het |
| Fam168b |
A |
G |
1: 34,859,063 (GRCm39) |
V72A |
possibly damaging |
Het |
| Fbxw20 |
C |
T |
9: 109,046,631 (GRCm39) |
S443N |
probably damaging |
Het |
| Flacc1 |
A |
T |
1: 58,700,601 (GRCm39) |
D301E |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,747,003 (GRCm39) |
V447A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,323,550 (GRCm39) |
S58P |
probably damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Lpcat2b |
T |
C |
5: 107,581,865 (GRCm39) |
L398P |
possibly damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrpl38 |
T |
C |
11: 116,023,278 (GRCm39) |
D325G |
probably damaging |
Het |
| Mtmr12 |
A |
G |
15: 12,270,132 (GRCm39) |
E430G |
probably damaging |
Het |
| Mup18 |
T |
A |
4: 61,590,154 (GRCm39) |
I125F |
possibly damaging |
Het |
| Ogdhl |
A |
G |
14: 32,047,842 (GRCm39) |
R31G |
probably benign |
Het |
| Or13f5 |
A |
T |
4: 52,825,399 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh1 |
C |
A |
18: 38,330,913 (GRCm39) |
V697L |
probably benign |
Het |
| Pcdhga9 |
T |
C |
18: 37,871,553 (GRCm39) |
Y461H |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,723 (GRCm39) |
Y625C |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
| Poglut2 |
A |
C |
1: 44,149,180 (GRCm39) |
F453V |
probably damaging |
Het |
| Ptprn |
T |
A |
1: 75,228,931 (GRCm39) |
D828V |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,700 (GRCm39) |
W97R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,413 (GRCm39) |
S126T |
possibly damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,768 (GRCm39) |
N100S |
probably benign |
Het |
| Speer1j |
T |
C |
5: 11,553,798 (GRCm39) |
S7P |
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,605,716 (GRCm39) |
D167E |
probably benign |
Het |
| Stambp |
G |
A |
6: 83,538,960 (GRCm39) |
Q147* |
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,047,000 (GRCm39) |
V556A |
possibly damaging |
Het |
| Tll2 |
T |
C |
19: 41,087,075 (GRCm39) |
D592G |
probably benign |
Het |
| Tmem199 |
A |
T |
11: 78,400,508 (GRCm39) |
|
probably benign |
Het |
| Traip |
T |
A |
9: 107,847,218 (GRCm39) |
N352K |
probably benign |
Het |
| Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
| Usp54 |
C |
A |
14: 20,600,406 (GRCm39) |
A1444S |
probably benign |
Het |
| Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,225,389 (GRCm39) |
T471I |
probably damaging |
Het |
| Zdhhc19 |
A |
G |
16: 32,316,494 (GRCm39) |
D83G |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,841,752 (GRCm39) |
|
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,944 (GRCm39) |
S170T |
probably benign |
Het |
| Zfp970 |
A |
G |
2: 177,167,961 (GRCm39) |
I512V |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,616 (GRCm39) |
I205V |
possibly damaging |
Het |
|
| Other mutations in Rnf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Rnf10
|
APN |
5 |
115,395,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Rnf10
|
APN |
5 |
115,389,161 (GRCm39) |
nonsense |
probably null |
|
|
IGL02291:Rnf10
|
APN |
5 |
115,398,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Rnf10
|
APN |
5 |
115,380,725 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02897:Rnf10
|
APN |
5 |
115,386,700 (GRCm39) |
missense |
probably benign |
|
|
IGL02968:Rnf10
|
APN |
5 |
115,383,947 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03008:Rnf10
|
APN |
5 |
115,389,355 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03098:Rnf10
|
UTSW |
5 |
115,410,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Rnf10
|
UTSW |
5 |
115,393,506 (GRCm39) |
splice site |
probably benign |
|
|
R1083:Rnf10
|
UTSW |
5 |
115,398,163 (GRCm39) |
splice site |
probably benign |
|
|
R1754:Rnf10
|
UTSW |
5 |
115,383,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1957:Rnf10
|
UTSW |
5 |
115,398,381 (GRCm39) |
splice site |
probably benign |
|
|
R2398:Rnf10
|
UTSW |
5 |
115,385,332 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2848:Rnf10
|
UTSW |
5 |
115,387,171 (GRCm39) |
missense |
probably benign |
|
|
R2849:Rnf10
|
UTSW |
5 |
115,387,171 (GRCm39) |
missense |
probably benign |
|
|
R4527:Rnf10
|
UTSW |
5 |
115,398,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4673:Rnf10
|
UTSW |
5 |
115,389,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4823:Rnf10
|
UTSW |
5 |
115,393,501 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5560:Rnf10
|
UTSW |
5 |
115,388,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5805:Rnf10
|
UTSW |
5 |
115,382,127 (GRCm39) |
missense |
probably benign |
|
|
R6192:Rnf10
|
UTSW |
5 |
115,395,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Rnf10
|
UTSW |
5 |
115,395,149 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7206:Rnf10
|
UTSW |
5 |
115,382,180 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7213:Rnf10
|
UTSW |
5 |
115,380,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7213:Rnf10
|
UTSW |
5 |
115,380,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Rnf10
|
UTSW |
5 |
115,386,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Rnf10
|
UTSW |
5 |
115,389,438 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8179:Rnf10
|
UTSW |
5 |
115,398,176 (GRCm39) |
frame shift |
probably null |
|
|
R8252:Rnf10
|
UTSW |
5 |
115,398,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8357:Rnf10
|
UTSW |
5 |
115,410,320 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8457:Rnf10
|
UTSW |
5 |
115,410,320 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9160:Rnf10
|
UTSW |
5 |
115,398,249 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9274:Rnf10
|
UTSW |
5 |
115,385,322 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAGCACATTGAGGCCTC -3'
(R):5'- GCCTCAGGTATTTGAAGGAGAG -3'
Sequencing Primer
(F):5'- TTGAGGCCTCAACAGTTGCAG -3'
(R):5'- CCTCAGGTATTTGAAGGAGAGGGATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation