Incidental Mutation 'R9763:Rubcnl'
| ID |
735837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rubcnl
|
| Ensembl Gene |
ENSMUSG00000034959 |
| Gene Name |
RUN and cysteine rich domain containing beclin 1 interacting protein like |
| Synonyms |
5031414D18Rik, LOC380917 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R9763 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75253467-75289972 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 75287108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 592
(L592*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036072]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036072
AA Change: L592*
|
| SMART Domains |
Protein: ENSMUSP00000045566
Gene: ENSMUSG00000034959
AA Change: L592*
| Domain | Start | End | E-Value | Type |
|---|
|
DUF4206
|
463 |
664 |
1.01e-108 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,302,717 (GRCm39) |
D2167E |
possibly damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,327 (GRCm39) |
Y420N |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,014,126 (GRCm39) |
L176Q |
probably damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,367,398 (GRCm39) |
K252M |
possibly damaging |
Het |
| Aspa |
C |
A |
11: 73,213,094 (GRCm39) |
E83* |
probably null |
Het |
| Atat1 |
A |
G |
17: 36,220,899 (GRCm39) |
L10P |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,869,919 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,809,692 (GRCm39) |
C217* |
probably null |
Het |
| Cttnbp2 |
C |
T |
6: 18,435,240 (GRCm39) |
S206N |
probably benign |
Het |
| Dner |
A |
T |
1: 84,361,656 (GRCm39) |
I651N |
possibly damaging |
Het |
| Efcab3 |
G |
A |
11: 104,890,485 (GRCm39) |
G4189E |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 63,982,438 (GRCm39) |
V91A |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,805,421 (GRCm39) |
D404G |
probably damaging |
Het |
| Gm13941 |
A |
G |
2: 110,931,518 (GRCm39) |
L38S |
unknown |
Het |
| Golph3l |
G |
A |
3: 95,517,085 (GRCm39) |
E198K |
possibly damaging |
Het |
| Hecw2 |
A |
C |
1: 53,963,074 (GRCm39) |
D812E |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,587,835 (GRCm39) |
E212V |
possibly damaging |
Het |
| Il6st |
C |
T |
13: 112,627,051 (GRCm39) |
S281F |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
T |
G |
15: 101,646,757 (GRCm39) |
K317T |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,760,020 (GRCm39) |
F72S |
probably damaging |
Het |
| Map3k1 |
C |
T |
13: 111,912,499 (GRCm39) |
R174H |
probably damaging |
Het |
| Marveld3 |
T |
A |
8: 110,688,375 (GRCm39) |
H122L |
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,174 (GRCm39) |
S184P |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,699,482 (GRCm39) |
G282* |
probably null |
Het |
| Myo16 |
T |
A |
8: 10,450,528 (GRCm39) |
M510K |
unknown |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Or10a3 |
T |
A |
7: 108,480,874 (GRCm39) |
|
probably benign |
Het |
| Or10a3n |
T |
G |
7: 108,493,210 (GRCm39) |
I140L |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,238,041 (GRCm39) |
Y3C |
probably damaging |
Het |
| Or4e5 |
T |
G |
14: 52,728,307 (GRCm39) |
Y38S |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,181 (GRCm39) |
M305K |
probably benign |
Het |
| Or9g20 |
T |
G |
2: 85,630,060 (GRCm39) |
N185H |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,376 (GRCm39) |
Y843H |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,903,867 (GRCm39) |
V242A |
possibly damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,865,261 (GRCm39) |
M717L |
probably benign |
Het |
| Rnf150 |
T |
C |
8: 83,732,968 (GRCm39) |
S272P |
probably benign |
Het |
| Rtraf |
A |
G |
14: 19,866,314 (GRCm39) |
V134A |
probably damaging |
Het |
| Slc23a1 |
A |
G |
18: 35,755,364 (GRCm39) |
S484P |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,204,118 (GRCm39) |
Y68H |
probably damaging |
Het |
| Speer4b |
C |
A |
5: 27,705,206 (GRCm39) |
V56L |
probably damaging |
Het |
| Sycp2l |
T |
A |
13: 41,306,232 (GRCm39) |
S84T |
|
Het |
| Syne1 |
T |
C |
10: 5,007,858 (GRCm39) |
D122G |
probably benign |
Het |
| Timd2 |
G |
T |
11: 46,573,540 (GRCm39) |
P155T |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,223,923 (GRCm39) |
R1401Q |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,309,125 (GRCm39) |
D312Y |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,818,860 (GRCm39) |
T1094A |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,186,988 (GRCm39) |
Y465N |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,531 (GRCm39) |
L530P |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,425,965 (GRCm39) |
T100S |
probably benign |
Het |
|
| Other mutations in Rubcnl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02571:Rubcnl
|
APN |
14 |
75,269,576 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02730:Rubcnl
|
APN |
14 |
75,287,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Rubcnl
|
UTSW |
14 |
75,285,703 (GRCm39) |
splice site |
probably benign |
|
|
R0147:Rubcnl
|
UTSW |
14 |
75,279,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Rubcnl
|
UTSW |
14 |
75,279,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0350:Rubcnl
|
UTSW |
14 |
75,278,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0487:Rubcnl
|
UTSW |
14 |
75,273,521 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0558:Rubcnl
|
UTSW |
14 |
75,284,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Rubcnl
|
UTSW |
14 |
75,278,267 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1791:Rubcnl
|
UTSW |
14 |
75,284,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Rubcnl
|
UTSW |
14 |
75,279,849 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2227:Rubcnl
|
UTSW |
14 |
75,279,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Rubcnl
|
UTSW |
14 |
75,278,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2910:Rubcnl
|
UTSW |
14 |
75,278,248 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2911:Rubcnl
|
UTSW |
14 |
75,278,248 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3826:Rubcnl
|
UTSW |
14 |
75,269,665 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3870:Rubcnl
|
UTSW |
14 |
75,278,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3871:Rubcnl
|
UTSW |
14 |
75,278,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4007:Rubcnl
|
UTSW |
14 |
75,287,143 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4161:Rubcnl
|
UTSW |
14 |
75,281,898 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5004:Rubcnl
|
UTSW |
14 |
75,269,617 (GRCm39) |
nonsense |
probably null |
|
|
R5041:Rubcnl
|
UTSW |
14 |
75,287,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Rubcnl
|
UTSW |
14 |
75,269,471 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5495:Rubcnl
|
UTSW |
14 |
75,279,777 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5739:Rubcnl
|
UTSW |
14 |
75,278,381 (GRCm39) |
splice site |
probably null |
|
|
R5910:Rubcnl
|
UTSW |
14 |
75,272,912 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5948:Rubcnl
|
UTSW |
14 |
75,285,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Rubcnl
|
UTSW |
14 |
75,269,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6038:Rubcnl
|
UTSW |
14 |
75,269,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6197:Rubcnl
|
UTSW |
14 |
75,269,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6297:Rubcnl
|
UTSW |
14 |
75,287,584 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6372:Rubcnl
|
UTSW |
14 |
75,285,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6376:Rubcnl
|
UTSW |
14 |
75,269,834 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6377:Rubcnl
|
UTSW |
14 |
75,287,635 (GRCm39) |
splice site |
probably null |
|
|
R6724:Rubcnl
|
UTSW |
14 |
75,289,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6884:Rubcnl
|
UTSW |
14 |
75,272,910 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7183:Rubcnl
|
UTSW |
14 |
75,287,066 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7186:Rubcnl
|
UTSW |
14 |
75,269,453 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7345:Rubcnl
|
UTSW |
14 |
75,279,793 (GRCm39) |
missense |
probably benign |
|
|
R7423:Rubcnl
|
UTSW |
14 |
75,287,083 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7548:Rubcnl
|
UTSW |
14 |
75,279,792 (GRCm39) |
missense |
probably benign |
|
|
R7606:Rubcnl
|
UTSW |
14 |
75,276,314 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7699:Rubcnl
|
UTSW |
14 |
75,269,404 (GRCm39) |
missense |
probably benign |
|
|
R7781:Rubcnl
|
UTSW |
14 |
75,269,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Rubcnl
|
UTSW |
14 |
75,289,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Rubcnl
|
UTSW |
14 |
75,269,359 (GRCm39) |
missense |
|
|
|
R9053:Rubcnl
|
UTSW |
14 |
75,269,717 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
RF011:Rubcnl
|
UTSW |
14 |
75,281,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Rubcnl
|
UTSW |
14 |
75,273,637 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGTGTTCAGTAATGGGAC -3'
(R):5'- AATGCTCTCCATGCTTGGG -3'
Sequencing Primer
(F):5'- CCAAGAGAGCTTTTTAACCCAGGG -3'
(R):5'- TCCATGCTTGGGGCTGAGAAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation