Incidental Mutation 'R3789:Rsbn1l'
| ID |
272431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsbn1l
|
| Ensembl Gene |
ENSMUSG00000039968 |
| Gene Name |
round spermatid basic protein 1-like |
| Synonyms |
8430412F05Rik, C330002G24Rik |
| MMRRC Submission |
041604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R3789 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21098026-21161396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 21101106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 811
(S811R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036489]
[ENSMUST00000196780]
|
| AlphaFold |
D3Z0K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036489
AA Change: S811R
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039482
Gene: ENSMUSG00000039968
AA Change: S811R
| 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 benign
Transcript: ENSMUST00000196780
|
| SMART Domains |
Protein: ENSMUSP00000142789
Gene: ENSMUSG00000039968
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
| Acvrl1 |
C |
T |
15: 101,035,350 (GRCm39) |
T292M |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,870,588 (GRCm39) |
S688P |
probably damaging |
Het |
| Adprs |
A |
T |
4: 126,210,544 (GRCm39) |
I312N |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,680,717 (GRCm39) |
G20V |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,547,005 (GRCm39) |
V2276L |
possibly damaging |
Het |
| Cstdc2 |
C |
A |
2: 148,689,878 (GRCm39) |
E92* |
probably null |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
A |
14: 67,476,942 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,384,869 (GRCm39) |
T195A |
probably benign |
Het |
| Frs3 |
G |
A |
17: 48,010,621 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,813,058 (GRCm39) |
S640P |
probably damaging |
Het |
| Hdhd2 |
G |
A |
18: 77,042,883 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,955,613 (GRCm39) |
S1310P |
probably damaging |
Het |
| Hltf |
C |
T |
3: 20,123,211 (GRCm39) |
P200S |
probably damaging |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,407,838 (GRCm39) |
D1817G |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,078,956 (GRCm39) |
I253V |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,492,113 (GRCm39) |
R403W |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,517,115 (GRCm39) |
D222G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,156 (GRCm39) |
D127E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,730,464 (GRCm39) |
|
probably benign |
Het |
| Plekha7 |
A |
C |
7: 115,774,969 (GRCm39) |
I175R |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Rexo2 |
A |
G |
9: 48,384,362 (GRCm39) |
I139T |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,814,276 (GRCm39) |
D345G |
probably benign |
Het |
| Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,825,844 (GRCm39) |
E539G |
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,387,150 (GRCm39) |
T212A |
possibly damaging |
Het |
| Spa17 |
T |
G |
9: 37,523,141 (GRCm39) |
K49Q |
possibly damaging |
Het |
| St3gal6 |
C |
T |
16: 58,305,136 (GRCm39) |
E109K |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,050,955 (GRCm39) |
N5D |
probably benign |
Het |
| Tmem232 |
C |
T |
17: 65,689,520 (GRCm39) |
D532N |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
| Tmem81 |
A |
G |
1: 132,435,809 (GRCm39) |
N205S |
probably benign |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,348 (GRCm39) |
N567I |
probably damaging |
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 |
|
|
R3893:Rsbn1l
|
UTSW |
5 |
21,110,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACTGAGGAATGTGACAACGC -3'
(R):5'- CTGGTGCAGCTCTAAGAATCAAG -3'
Sequencing Primer
(F):5'- CTGAGGAATGTGACAACGCTACATC -3'
(R):5'- GGATGGCTCCCATACCTGAAAAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation