Incidental Mutation 'IGL03007:Rsbn1'
| ID |
407599 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rsbn1
|
| Ensembl Gene |
ENSMUSG00000044098 |
| Gene Name |
rosbin, round spermatid basic protein 1 |
| Synonyms |
C230004D03Rik, Rsbp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03007
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103821436-103873952 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103836195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 411
(A411V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051139]
[ENSMUST00000068879]
|
| AlphaFold |
Q80T69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051139
AA Change: A411V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: A411V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068879
AA Change: A411V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: A411V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151927
AA Change: A372V
|
| SMART Domains |
Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: A372V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000185731
AA Change: A87V
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(9) : Targeted, other(3) Gene trapped(6) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,098,034 (GRCm39) |
N144D |
possibly damaging |
Het |
| A830031A19Rik |
T |
C |
11: 23,999,248 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,641,347 (GRCm39) |
F640S |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,040,615 (GRCm39) |
Y16H |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,496,193 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,651,542 (GRCm39) |
V145E |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,394,444 (GRCm39) |
T183A |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,159,690 (GRCm39) |
V56A |
probably damaging |
Het |
| Erbb2 |
A |
C |
11: 98,319,819 (GRCm39) |
|
probably benign |
Het |
| Ighv6-4 |
A |
T |
12: 114,370,213 (GRCm39) |
Y80N |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,378 (GRCm39) |
S782P |
probably damaging |
Het |
| Itsn1 |
A |
T |
16: 91,581,050 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,282,245 (GRCm39) |
Y77N |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,680,401 (GRCm39) |
F359S |
probably damaging |
Het |
| Mtmr6 |
G |
T |
14: 60,526,984 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,570,866 (GRCm39) |
S642F |
possibly damaging |
Het |
| Ncoa1 |
T |
A |
12: 4,389,114 (GRCm39) |
I54F |
possibly damaging |
Het |
| Nfx1 |
C |
A |
4: 40,984,962 (GRCm39) |
T362K |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,690,050 (GRCm39) |
S449G |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,598,811 (GRCm39) |
H230Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,767 (GRCm39) |
V138A |
possibly damaging |
Het |
| Or10h28 |
A |
G |
17: 33,487,857 (GRCm39) |
E53G |
probably damaging |
Het |
| Or1j19 |
T |
C |
2: 36,676,812 (GRCm39) |
S92P |
probably damaging |
Het |
| Or8d1 |
C |
T |
9: 38,766,592 (GRCm39) |
T78I |
probably damaging |
Het |
| Plekhh2 |
A |
C |
17: 84,882,388 (GRCm39) |
S665R |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,378,294 (GRCm39) |
F155I |
probably damaging |
Het |
| Rcor2 |
C |
A |
19: 7,251,718 (GRCm39) |
T379K |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,020,699 (GRCm39) |
N574S |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,894,384 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,668,115 (GRCm39) |
S661P |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,900,778 (GRCm39) |
M370K |
possibly damaging |
Het |
| Tex101 |
G |
A |
7: 24,369,906 (GRCm39) |
|
probably benign |
Het |
| Tmem255b |
C |
T |
8: 13,507,066 (GRCm39) |
T265I |
possibly damaging |
Het |
| Trio |
G |
T |
15: 27,902,828 (GRCm39) |
A211D |
probably damaging |
Het |
| Zfp638 |
C |
A |
6: 83,961,866 (GRCm39) |
Q1902K |
probably damaging |
Het |
|
| Other mutations in Rsbn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Rsbn1
|
APN |
3 |
103,836,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00725:Rsbn1
|
APN |
3 |
103,836,137 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01682:Rsbn1
|
APN |
3 |
103,869,696 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01978:Rsbn1
|
APN |
3 |
103,868,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02281:Rsbn1
|
APN |
3 |
103,869,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02615:Rsbn1
|
APN |
3 |
103,861,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Rsbn1
|
APN |
3 |
103,860,972 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02903:Rsbn1
|
APN |
3 |
103,835,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Rsbn1
|
APN |
3 |
103,869,668 (GRCm39) |
missense |
probably benign |
|
|
IGL03062:Rsbn1
|
APN |
3 |
103,860,945 (GRCm39) |
intron |
probably benign |
|
|
IGL03345:Rsbn1
|
APN |
3 |
103,822,466 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
F2404:Rsbn1
|
UTSW |
3 |
103,821,892 (GRCm39) |
nonsense |
probably null |
|
|
R0277:Rsbn1
|
UTSW |
3 |
103,821,897 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0815:Rsbn1
|
UTSW |
3 |
103,861,469 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1760:Rsbn1
|
UTSW |
3 |
103,867,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Rsbn1
|
UTSW |
3 |
103,822,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2021:Rsbn1
|
UTSW |
3 |
103,821,789 (GRCm39) |
missense |
probably benign |
|
|
R2078:Rsbn1
|
UTSW |
3 |
103,868,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2330:Rsbn1
|
UTSW |
3 |
103,821,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3956:Rsbn1
|
UTSW |
3 |
103,835,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4094:Rsbn1
|
UTSW |
3 |
103,835,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4649:Rsbn1
|
UTSW |
3 |
103,861,096 (GRCm39) |
splice site |
probably null |
|
|
R4720:Rsbn1
|
UTSW |
3 |
103,836,336 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5299:Rsbn1
|
UTSW |
3 |
103,821,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5505:Rsbn1
|
UTSW |
3 |
103,836,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Rsbn1
|
UTSW |
3 |
103,869,801 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5775:Rsbn1
|
UTSW |
3 |
103,869,888 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6509:Rsbn1
|
UTSW |
3 |
103,867,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6629:Rsbn1
|
UTSW |
3 |
103,835,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Rsbn1
|
UTSW |
3 |
103,836,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Rsbn1
|
UTSW |
3 |
103,821,892 (GRCm39) |
nonsense |
probably null |
|
|
R7623:Rsbn1
|
UTSW |
3 |
103,822,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8021:Rsbn1
|
UTSW |
3 |
103,835,898 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8524:Rsbn1
|
UTSW |
3 |
103,835,687 (GRCm39) |
nonsense |
probably null |
|
|
R8525:Rsbn1
|
UTSW |
3 |
103,821,538 (GRCm39) |
unclassified |
probably benign |
|
|
R8948:Rsbn1
|
UTSW |
3 |
103,868,830 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9003:Rsbn1
|
UTSW |
3 |
103,822,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9502:Rsbn1
|
UTSW |
3 |
103,822,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2016-08-02 |
Incidental Mutation