Incidental Mutation 'PIT4280001:Rsbn1l'
| ID |
554403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsbn1l
|
| Ensembl Gene |
ENSMUSG00000039968 |
| Gene Name |
round spermatid basic protein 1-like |
| Synonyms |
8430412F05Rik, C330002G24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
PIT4280001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21098026-21161396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21124653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 383
(H383L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036489]
[ENSMUST00000196780]
[ENSMUST00000197089]
|
| AlphaFold |
D3Z0K6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036489
AA Change: H383L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039482
Gene: ENSMUSG00000039968
AA Change: H383L
| 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: H383L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142789
Gene: ENSMUSG00000039968
AA Change: H383L
| 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: ENSMUST00000197089
|
| SMART Domains |
Protein: ENSMUSP00000142461
Gene: ENSMUSG00000039968
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
45 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.9%
- 10x: 85.5%
- 20x: 73.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,660 (GRCm39) |
D161G |
probably damaging |
Het |
| Acer2 |
C |
T |
4: 86,805,320 (GRCm39) |
L95F |
probably damaging |
Het |
| Adam15 |
C |
T |
3: 89,251,285 (GRCm39) |
|
probably null |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,054 (GRCm39) |
M21L |
probably benign |
Het |
| Bmi1 |
T |
A |
2: 18,687,820 (GRCm39) |
Y98* |
probably null |
Het |
| Cdon |
T |
C |
9: 35,398,231 (GRCm39) |
C983R |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,153,135 (GRCm39) |
V160I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,585,387 (GRCm39) |
R1297G |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,681,850 (GRCm39) |
M1132K |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,989,408 (GRCm39) |
R1267W |
possibly damaging |
Het |
| Dnah9 |
G |
A |
11: 65,895,839 (GRCm39) |
A2512V |
probably benign |
Het |
| Eri3 |
G |
A |
4: 117,439,831 (GRCm39) |
G175D |
probably damaging |
Het |
| Fbxo9 |
C |
A |
9: 77,994,793 (GRCm39) |
W244L |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,889,576 (GRCm39) |
H343L |
probably benign |
Het |
| Fmnl2 |
G |
A |
2: 53,008,208 (GRCm39) |
A803T |
unknown |
Het |
| Fmnl3 |
A |
G |
15: 99,219,134 (GRCm39) |
|
probably null |
Het |
| Fth1 |
C |
A |
19: 9,961,973 (GRCm39) |
A104E |
probably damaging |
Het |
| Gcm1 |
T |
C |
9: 77,966,915 (GRCm39) |
Y45H |
probably damaging |
Het |
| Gm5157 |
C |
G |
7: 20,919,007 (GRCm39) |
G179R |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,234,941 (GRCm39) |
I463T |
probably damaging |
Het |
| Gpr35 |
T |
C |
1: 92,910,356 (GRCm39) |
Y23H |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,761,046 (GRCm39) |
H647Y |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,062,148 (GRCm39) |
K436M |
probably benign |
Het |
| Lacc1 |
T |
A |
14: 77,272,517 (GRCm39) |
Q93L |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,119,217 (GRCm39) |
R801G |
probably damaging |
Het |
| Lrp2bp |
T |
G |
8: 46,476,048 (GRCm39) |
V263G |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,961,668 (GRCm39) |
K453N |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,700,039 (GRCm39) |
Y703F |
probably benign |
Het |
| Mms22l |
A |
G |
4: 24,581,149 (GRCm39) |
T820A |
probably benign |
Het |
| Ndufa12 |
T |
C |
10: 94,034,994 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,290,063 (GRCm39) |
C150S |
possibly damaging |
Het |
| Noc4l |
G |
A |
5: 110,799,305 (GRCm39) |
T159I |
probably benign |
Het |
| Olfml2b |
T |
A |
1: 170,475,305 (GRCm39) |
C77S |
probably damaging |
Het |
| Or4c12 |
A |
T |
2: 89,774,087 (GRCm39) |
I124N |
probably damaging |
Het |
| Or9a4 |
C |
A |
6: 40,548,650 (GRCm39) |
T110K |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,399,374 (GRCm39) |
V784A |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,470 (GRCm39) |
Y369F |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,704,136 (GRCm39) |
I600N |
probably benign |
Het |
| Psg19 |
T |
C |
7: 18,530,831 (GRCm39) |
I108V |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,045,327 (GRCm39) |
V539M |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,227,023 (GRCm39) |
I23S |
probably benign |
Het |
| Scamp2 |
A |
T |
9: 57,488,076 (GRCm39) |
N118I |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,546,074 (GRCm39) |
V879A |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,855,370 (GRCm39) |
E172K |
probably damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,349,419 (GRCm39) |
C214Y |
possibly damaging |
Het |
| Stag1 |
A |
G |
9: 100,824,769 (GRCm39) |
T922A |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,157,586 (GRCm39) |
H1307R |
probably damaging |
Het |
| Tut1 |
T |
G |
19: 8,936,626 (GRCm39) |
V150G |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,255,789 (GRCm39) |
R1371W |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,487 (GRCm39) |
N394D |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,553,409 (GRCm39) |
T616A |
probably damaging |
Het |
| Zp3 |
G |
A |
5: 136,013,318 (GRCm39) |
V217M |
possibly 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 |
|
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 |
|
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'- CCAAGAAGTTACTCTCAAACAGTTTC -3'
(R):5'- ATTCACATTGAGCACCAGCC -3'
Sequencing Primer
(F):5'- TCCCATTTTACCTCAAACCTACAG -3'
(R):5'- TTGAGCACCAGCCTAACGGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation