Incidental Mutation 'R2086:Sbno2'
ID |
230006 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sbno2
|
Ensembl Gene |
ENSMUSG00000035673 |
Gene Name |
strawberry notch 2 |
Synonyms |
Stno |
MMRRC Submission |
040091-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79892826-79941405 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79893690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1204
(I1204F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151590
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042771]
[ENSMUST00000097227]
[ENSMUST00000105372]
[ENSMUST00000218630]
[ENSMUST00000219260]
[ENSMUST00000183037]
[ENSMUST00000217972]
|
AlphaFold |
Q7TNB8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042771
AA Change: I1204F
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000041635 Gene: ENSMUSG00000035673 AA Change: I1204F
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
Pfam:AAA_34
|
209 |
500 |
8.2e-135 |
PFAM |
Pfam:ResIII
|
239 |
419 |
7.7e-8 |
PFAM |
low complexity region
|
611 |
631 |
N/A |
INTRINSIC |
Pfam:Helicase_C_4
|
726 |
1004 |
7.5e-120 |
PFAM |
low complexity region
|
1263 |
1283 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097227
|
SMART Domains |
Protein: ENSMUSP00000094863 Gene: ENSMUSG00000075706
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
Pfam:GSHPx
|
97 |
204 |
6e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105372
|
SMART Domains |
Protein: ENSMUSP00000101011 Gene: ENSMUSG00000075706
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:GSHPx
|
41 |
148 |
1.3e-46 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145703
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154095
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218630
AA Change: I1203F
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219260
AA Change: I1204F
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217876
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183037
|
SMART Domains |
Protein: ENSMUSP00000138186 Gene: ENSMUSG00000075706
Domain | Start | End | E-Value | Type |
Pfam:GSHPx
|
1 |
108 |
3.6e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217972
|
Meta Mutation Damage Score |
0.5429 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
99% (80/81) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired osteoclast fusion, impaired osteoblastogenesis, osteopetrosis, increased bone mass, and decreased body weight. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533L02Rik |
T |
C |
7: 124,917,767 (GRCm39) |
M53T |
unknown |
Het |
Abcb11 |
T |
A |
2: 69,089,820 (GRCm39) |
|
probably benign |
Het |
Acap2 |
C |
G |
16: 30,929,763 (GRCm39) |
A432P |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,146,249 (GRCm39) |
R302G |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,536 (GRCm39) |
E558G |
probably damaging |
Het |
Ap2b1 |
T |
G |
11: 83,241,944 (GRCm39) |
S608A |
possibly damaging |
Het |
Atp13a3 |
T |
A |
16: 30,171,116 (GRCm39) |
T310S |
possibly damaging |
Het |
Atp6v1b1 |
T |
C |
6: 83,734,834 (GRCm39) |
V382A |
probably benign |
Het |
Atp6v1g1 |
T |
A |
4: 63,468,304 (GRCm39) |
F102L |
probably benign |
Het |
B430306N03Rik |
T |
A |
17: 48,623,810 (GRCm39) |
V37D |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,769,314 (GRCm39) |
Y1872C |
possibly damaging |
Het |
Carf |
T |
A |
1: 60,148,570 (GRCm39) |
Y54N |
probably damaging |
Het |
Cct5 |
T |
C |
15: 31,594,349 (GRCm39) |
E256G |
probably damaging |
Het |
Cd5 |
A |
G |
19: 10,700,620 (GRCm39) |
S295P |
probably benign |
Het |
Cenpb |
T |
C |
2: 131,020,517 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,942,076 (GRCm39) |
M218T |
possibly damaging |
Het |
Colec11 |
C |
T |
12: 28,644,786 (GRCm39) |
R236H |
probably damaging |
Het |
Crem |
T |
A |
18: 3,288,098 (GRCm39) |
|
probably benign |
Het |
Csnk2a1 |
A |
G |
2: 152,096,201 (GRCm39) |
N58S |
probably benign |
Het |
Cyp2a4 |
T |
G |
7: 26,011,733 (GRCm39) |
M318R |
probably damaging |
Het |
Dhrs1 |
T |
A |
14: 55,981,116 (GRCm39) |
Q98L |
probably null |
Het |
Dnah11 |
G |
T |
12: 118,077,606 (GRCm39) |
Q1296K |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
Eid2b |
C |
T |
7: 27,977,198 (GRCm39) |
|
probably benign |
Het |
Exoc1 |
A |
T |
5: 76,680,693 (GRCm39) |
K28* |
probably null |
Het |
Fam114a1 |
A |
G |
5: 65,137,402 (GRCm39) |
D115G |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,592,760 (GRCm39) |
|
probably null |
Het |
Gc |
T |
C |
5: 89,586,201 (GRCm39) |
Y313C |
probably damaging |
Het |
Gdpd1 |
A |
G |
11: 86,926,094 (GRCm39) |
Y284H |
probably benign |
Het |
Gm21957 |
T |
A |
7: 124,818,878 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
G |
A |
13: 59,792,999 (GRCm39) |
Q169* |
probably null |
Het |
Greb1l |
T |
C |
18: 10,523,281 (GRCm39) |
V813A |
probably damaging |
Het |
Itih1 |
C |
T |
14: 30,659,800 (GRCm39) |
A279T |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lama1 |
T |
C |
17: 68,124,618 (GRCm39) |
C2893R |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,657,887 (GRCm39) |
N334K |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,472,642 (GRCm39) |
D1053G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,228,729 (GRCm39) |
K316R |
probably benign |
Het |
Mapre3 |
A |
C |
5: 31,020,546 (GRCm39) |
|
probably null |
Het |
Mgam |
T |
A |
6: 40,737,962 (GRCm39) |
|
probably null |
Het |
Mical2 |
A |
C |
7: 111,917,810 (GRCm39) |
H389P |
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,711,248 (GRCm39) |
D347G |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
Nodal |
A |
T |
10: 61,259,077 (GRCm39) |
E171D |
possibly damaging |
Het |
Notch2 |
T |
C |
3: 98,009,683 (GRCm39) |
S537P |
probably damaging |
Het |
Obox6 |
A |
G |
7: 15,567,532 (GRCm39) |
L305S |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,969,082 (GRCm39) |
D2715G |
probably damaging |
Het |
Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
Or5g26 |
A |
C |
2: 85,494,090 (GRCm39) |
S229R |
probably benign |
Het |
Pcca |
T |
C |
14: 122,923,527 (GRCm39) |
S404P |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,906 (GRCm39) |
S407P |
probably damaging |
Het |
Plekha5 |
C |
A |
6: 140,516,044 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
G |
13: 67,101,619 (GRCm39) |
N72S |
probably benign |
Het |
Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
Pygm |
G |
A |
19: 6,441,511 (GRCm39) |
|
probably null |
Het |
Rab7 |
C |
T |
6: 87,989,300 (GRCm39) |
V57I |
probably benign |
Het |
Rasl10a |
A |
G |
11: 5,009,431 (GRCm39) |
|
probably null |
Het |
Rergl |
T |
C |
6: 139,471,832 (GRCm39) |
T106A |
probably benign |
Het |
Rnf17 |
T |
G |
14: 56,720,837 (GRCm39) |
V1023G |
probably damaging |
Het |
Rnf25 |
T |
A |
1: 74,633,126 (GRCm39) |
R409W |
probably damaging |
Het |
Rps6ka1 |
T |
C |
4: 133,600,280 (GRCm39) |
M1V |
probably null |
Het |
Rps6ka5 |
T |
C |
12: 100,585,874 (GRCm39) |
T140A |
possibly damaging |
Het |
Serpina16 |
A |
T |
12: 103,641,521 (GRCm39) |
I68N |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,964,628 (GRCm39) |
S202P |
probably damaging |
Het |
Slc35g3 |
G |
C |
11: 69,651,772 (GRCm39) |
S93W |
probably damaging |
Het |
Slc49a3 |
C |
T |
5: 108,593,487 (GRCm39) |
R117H |
probably damaging |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Spag1 |
T |
C |
15: 36,227,287 (GRCm39) |
L648P |
probably damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,102 (GRCm39) |
D198G |
probably benign |
Het |
Tedc2 |
T |
C |
17: 24,436,874 (GRCm39) |
E287G |
probably damaging |
Het |
Tjp1 |
C |
A |
7: 64,962,669 (GRCm39) |
R1089S |
probably damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
T |
A |
15: 85,722,928 (GRCm39) |
D125E |
probably benign |
Het |
Uggt1 |
C |
T |
1: 36,231,495 (GRCm39) |
R490Q |
probably null |
Het |
Uroc1 |
T |
G |
6: 90,321,096 (GRCm39) |
L224R |
probably damaging |
Het |
Vmn1r228 |
A |
T |
17: 20,997,455 (GRCm39) |
I21N |
possibly damaging |
Het |
Vmn2r102 |
T |
G |
17: 19,896,949 (GRCm39) |
L99V |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,857,571 (GRCm39) |
S2601F |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,010,830 (GRCm39) |
L932P |
probably damaging |
Het |
|
Other mutations in Sbno2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Sbno2
|
APN |
10 |
79,900,340 (GRCm39) |
splice site |
probably benign |
|
IGL01773:Sbno2
|
APN |
10 |
79,893,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01869:Sbno2
|
APN |
10 |
79,896,226 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01911:Sbno2
|
APN |
10 |
79,905,458 (GRCm39) |
nonsense |
probably null |
|
IGL02071:Sbno2
|
APN |
10 |
79,896,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02094:Sbno2
|
APN |
10 |
79,893,479 (GRCm39) |
missense |
probably benign |
|
IGL02220:Sbno2
|
APN |
10 |
79,908,202 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02366:Sbno2
|
APN |
10 |
79,900,036 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02608:Sbno2
|
APN |
10 |
79,903,236 (GRCm39) |
splice site |
probably null |
|
IGL03007:Sbno2
|
APN |
10 |
79,894,384 (GRCm39) |
splice site |
probably benign |
|
IGL03083:Sbno2
|
APN |
10 |
79,893,368 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03393:Sbno2
|
APN |
10 |
79,902,735 (GRCm39) |
missense |
probably damaging |
1.00 |
Narcissus
|
UTSW |
10 |
79,898,042 (GRCm39) |
missense |
probably damaging |
1.00 |
psychopomp
|
UTSW |
10 |
79,895,850 (GRCm39) |
missense |
probably damaging |
0.99 |
Unsafe
|
UTSW |
10 |
79,896,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Sbno2
|
UTSW |
10 |
79,894,174 (GRCm39) |
splice site |
probably benign |
|
R0126:Sbno2
|
UTSW |
10 |
79,904,687 (GRCm39) |
splice site |
probably null |
|
R0652:Sbno2
|
UTSW |
10 |
79,903,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R0964:Sbno2
|
UTSW |
10 |
79,920,093 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1571:Sbno2
|
UTSW |
10 |
79,896,226 (GRCm39) |
critical splice donor site |
probably null |
|
R1601:Sbno2
|
UTSW |
10 |
79,896,326 (GRCm39) |
missense |
probably damaging |
0.98 |
R1634:Sbno2
|
UTSW |
10 |
79,896,468 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1733:Sbno2
|
UTSW |
10 |
79,894,342 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1762:Sbno2
|
UTSW |
10 |
79,902,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Sbno2
|
UTSW |
10 |
79,896,439 (GRCm39) |
nonsense |
probably null |
|
R1859:Sbno2
|
UTSW |
10 |
79,894,473 (GRCm39) |
nonsense |
probably null |
|
R2136:Sbno2
|
UTSW |
10 |
79,898,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R2360:Sbno2
|
UTSW |
10 |
79,893,855 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4426:Sbno2
|
UTSW |
10 |
79,908,192 (GRCm39) |
missense |
probably null |
0.02 |
R4504:Sbno2
|
UTSW |
10 |
79,896,326 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4692:Sbno2
|
UTSW |
10 |
79,922,161 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5044:Sbno2
|
UTSW |
10 |
79,898,022 (GRCm39) |
missense |
probably benign |
0.11 |
R5166:Sbno2
|
UTSW |
10 |
79,902,762 (GRCm39) |
nonsense |
probably null |
|
R5576:Sbno2
|
UTSW |
10 |
79,903,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R5665:Sbno2
|
UTSW |
10 |
79,894,287 (GRCm39) |
missense |
probably benign |
0.00 |
R5709:Sbno2
|
UTSW |
10 |
79,922,171 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
R5828:Sbno2
|
UTSW |
10 |
79,902,424 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6192:Sbno2
|
UTSW |
10 |
79,895,850 (GRCm39) |
missense |
probably damaging |
0.99 |
R6971:Sbno2
|
UTSW |
10 |
79,895,868 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7012:Sbno2
|
UTSW |
10 |
79,905,352 (GRCm39) |
intron |
probably benign |
|
R7082:Sbno2
|
UTSW |
10 |
79,895,924 (GRCm39) |
splice site |
probably null |
|
R7133:Sbno2
|
UTSW |
10 |
79,922,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Sbno2
|
UTSW |
10 |
79,905,409 (GRCm39) |
missense |
unknown |
|
R7481:Sbno2
|
UTSW |
10 |
79,893,333 (GRCm39) |
missense |
probably benign |
0.11 |
R7746:Sbno2
|
UTSW |
10 |
79,894,708 (GRCm39) |
missense |
probably damaging |
0.99 |
R7964:Sbno2
|
UTSW |
10 |
79,904,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R8055:Sbno2
|
UTSW |
10 |
79,905,265 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8221:Sbno2
|
UTSW |
10 |
79,905,845 (GRCm39) |
missense |
probably benign |
|
R8329:Sbno2
|
UTSW |
10 |
79,900,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8725:Sbno2
|
UTSW |
10 |
79,911,090 (GRCm39) |
missense |
probably benign |
0.09 |
R8727:Sbno2
|
UTSW |
10 |
79,911,090 (GRCm39) |
missense |
probably benign |
0.09 |
R8840:Sbno2
|
UTSW |
10 |
79,893,360 (GRCm39) |
missense |
probably damaging |
0.97 |
R8932:Sbno2
|
UTSW |
10 |
79,898,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R8954:Sbno2
|
UTSW |
10 |
79,893,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R9003:Sbno2
|
UTSW |
10 |
79,896,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R9034:Sbno2
|
UTSW |
10 |
79,898,591 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Sbno2
|
UTSW |
10 |
79,893,293 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTGAAATTGATGTCGCAGC -3'
(R):5'- ATGGCGGATGTCAGCAGTAG -3'
Sequencing Primer
(F):5'- TGTTGGGAAAGCCTCAGC -3'
(R):5'- GTAGCAGCTACCTACAGATTGTGC -3'
|
Posted On |
2014-09-18 |