Incidental Mutation 'R3893:Rsbn1l'
ID |
310033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsbn1l
|
Ensembl Gene |
ENSMUSG00000039968 |
Gene Name |
round spermatid basic protein 1-like |
Synonyms |
8430412F05Rik, C330002G24Rik |
MMRRC Submission |
040805-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R3893 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
21098026-21161396 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 21110838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 500
(R500H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036489]
[ENSMUST00000196780]
|
AlphaFold |
D3Z0K6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036489
AA Change: R500H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039482 Gene: ENSMUSG00000039968 AA Change: R500H
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
low complexity region
|
71 |
109 |
N/A |
INTRINSIC |
low complexity region
|
136 |
156 |
N/A |
INTRINSIC |
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
low complexity region
|
229 |
249 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000196780
AA Change: R500H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142789 Gene: ENSMUSG00000039968 AA Change: R500H
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
low complexity region
|
71 |
109 |
N/A |
INTRINSIC |
low complexity region
|
136 |
156 |
N/A |
INTRINSIC |
low complexity region
|
176 |
194 |
N/A |
INTRINSIC |
low complexity region
|
229 |
249 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9282 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610303G11Rik |
A |
T |
9: 98,068,864 (GRCm39) |
|
noncoding transcript |
Het |
Adam19 |
C |
T |
11: 46,019,665 (GRCm39) |
A455V |
probably damaging |
Het |
Akr1c19 |
G |
A |
13: 4,288,441 (GRCm39) |
D140N |
probably damaging |
Het |
Atoh1 |
A |
G |
6: 64,707,117 (GRCm39) |
T271A |
probably damaging |
Het |
Atp6v0a2 |
G |
A |
5: 124,777,203 (GRCm39) |
R168Q |
probably damaging |
Het |
B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
Cadps |
A |
G |
14: 12,488,883 (GRCm38) |
|
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,631,245 (GRCm39) |
V61E |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,445,113 (GRCm39) |
R365G |
probably damaging |
Het |
Cracdl |
T |
A |
1: 37,670,539 (GRCm39) |
M134L |
probably benign |
Het |
Cyria |
T |
C |
12: 12,412,526 (GRCm39) |
V232A |
probably benign |
Het |
Dnajc18 |
A |
T |
18: 35,834,048 (GRCm39) |
|
probably null |
Het |
Fmnl1 |
T |
A |
11: 103,087,583 (GRCm39) |
|
probably benign |
Het |
Gca |
A |
G |
2: 62,509,564 (GRCm39) |
Y89C |
probably damaging |
Het |
Gcnt2 |
A |
G |
13: 41,013,922 (GRCm39) |
Y31C |
probably benign |
Het |
Gem |
C |
T |
4: 11,705,889 (GRCm39) |
|
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
Gprin3 |
T |
C |
6: 59,331,464 (GRCm39) |
Y281C |
probably benign |
Het |
H2-M11 |
A |
G |
17: 36,857,982 (GRCm39) |
T6A |
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,928,268 (GRCm39) |
|
probably benign |
Het |
Macf1 |
A |
G |
4: 123,380,199 (GRCm39) |
Y1298H |
probably damaging |
Het |
Micu3 |
C |
T |
8: 40,819,265 (GRCm39) |
L315F |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,791,084 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,382,362 (GRCm39) |
Y2596* |
probably null |
Het |
Pnliprp2 |
A |
G |
19: 58,754,705 (GRCm39) |
S250G |
probably benign |
Het |
Prkcq |
A |
C |
2: 11,231,782 (GRCm39) |
E35A |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,391,083 (GRCm39) |
S1377R |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sart3 |
C |
T |
5: 113,884,697 (GRCm39) |
E636K |
probably benign |
Het |
Skint3 |
A |
G |
4: 112,111,115 (GRCm39) |
K80R |
probably damaging |
Het |
Slc11a1 |
G |
A |
1: 74,423,865 (GRCm39) |
A398T |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,453,505 (GRCm39) |
E2887* |
probably null |
Het |
Tmc5 |
A |
C |
7: 118,244,592 (GRCm39) |
Y490S |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tnfsf8 |
G |
T |
4: 63,779,196 (GRCm39) |
T34K |
possibly damaging |
Het |
Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
Vkorc1l1 |
A |
T |
5: 130,011,112 (GRCm39) |
I109L |
probably benign |
Het |
Vmn1r214 |
A |
G |
13: 23,218,811 (GRCm39) |
T102A |
probably benign |
Het |
Wdr19 |
A |
G |
5: 65,385,635 (GRCm39) |
D579G |
possibly damaging |
Het |
Zc3h6 |
A |
G |
2: 128,858,060 (GRCm39) |
Y697C |
probably damaging |
Het |
Zfp955b |
T |
C |
17: 33,521,968 (GRCm39) |
I479T |
probably benign |
Het |
|
Other mutations in Rsbn1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00793:Rsbn1l
|
APN |
5 |
21,101,153 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01631:Rsbn1l
|
APN |
5 |
21,101,570 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01631:Rsbn1l
|
APN |
5 |
21,101,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02237:Rsbn1l
|
APN |
5 |
21,124,604 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02434:Rsbn1l
|
APN |
5 |
21,124,732 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02458:Rsbn1l
|
APN |
5 |
21,156,734 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02994:Rsbn1l
|
APN |
5 |
21,113,232 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Rsbn1l
|
UTSW |
5 |
21,124,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R0288:Rsbn1l
|
UTSW |
5 |
21,125,038 (GRCm39) |
missense |
probably damaging |
0.97 |
R1429:Rsbn1l
|
UTSW |
5 |
21,125,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Rsbn1l
|
UTSW |
5 |
21,156,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Rsbn1l
|
UTSW |
5 |
21,156,488 (GRCm39) |
missense |
probably benign |
0.18 |
R1875:Rsbn1l
|
UTSW |
5 |
21,156,696 (GRCm39) |
missense |
probably benign |
0.17 |
R1998:Rsbn1l
|
UTSW |
5 |
21,107,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R1999:Rsbn1l
|
UTSW |
5 |
21,107,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R2000:Rsbn1l
|
UTSW |
5 |
21,107,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Rsbn1l
|
UTSW |
5 |
21,107,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Rsbn1l
|
UTSW |
5 |
21,124,767 (GRCm39) |
missense |
probably benign |
0.40 |
R3434:Rsbn1l
|
UTSW |
5 |
21,110,928 (GRCm39) |
splice site |
probably benign |
|
R3789:Rsbn1l
|
UTSW |
5 |
21,101,106 (GRCm39) |
missense |
probably benign |
0.24 |
R3924:Rsbn1l
|
UTSW |
5 |
21,124,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R4335:Rsbn1l
|
UTSW |
5 |
21,113,191 (GRCm39) |
missense |
probably null |
0.45 |
R4422:Rsbn1l
|
UTSW |
5 |
21,101,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5131:Rsbn1l
|
UTSW |
5 |
21,101,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5212:Rsbn1l
|
UTSW |
5 |
21,101,212 (GRCm39) |
missense |
probably benign |
0.03 |
R5739:Rsbn1l
|
UTSW |
5 |
21,110,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R6736:Rsbn1l
|
UTSW |
5 |
21,113,222 (GRCm39) |
missense |
probably benign |
0.45 |
R6980:Rsbn1l
|
UTSW |
5 |
21,101,482 (GRCm39) |
missense |
probably benign |
|
R7252:Rsbn1l
|
UTSW |
5 |
21,113,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Rsbn1l
|
UTSW |
5 |
21,132,621 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7538:Rsbn1l
|
UTSW |
5 |
21,101,455 (GRCm39) |
missense |
probably benign |
0.01 |
R7914:Rsbn1l
|
UTSW |
5 |
21,110,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R8396:Rsbn1l
|
UTSW |
5 |
21,132,665 (GRCm39) |
missense |
probably benign |
0.40 |
R8899:Rsbn1l
|
UTSW |
5 |
21,101,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R8941:Rsbn1l
|
UTSW |
5 |
21,110,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R9472:Rsbn1l
|
UTSW |
5 |
21,113,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R9723:Rsbn1l
|
UTSW |
5 |
21,101,464 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCCCATTTGGTCCTTG -3'
(R):5'- CATCTGTTGGCTTTCAGGTCGA -3'
Sequencing Primer
(F):5'- CCTTGTTTGGATAGATAAGTGGGCAC -3'
(R):5'- GCTTTCAGGTCGAGTTTTAATTTTTC -3'
|
Posted On |
2015-04-17 |