Incidental Mutation 'IGL01610:Scaf8'
| ID |
91968 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scaf8
|
| Ensembl Gene |
ENSMUSG00000046201 |
| Gene Name |
SR-related CTD-associated factor 8 |
| Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.758)
|
| Stock # |
IGL01610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3246124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 738
(P738S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
| AlphaFold |
Q6DID3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076734
AA Change: P738S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: P738S
| Domain | Start | End | E-Value | Type |
|---|
|
RPR
|
6 |
136 |
1.26e-42 |
SMART |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
462 |
N/A |
INTRINSIC |
|
RRM
|
478 |
547 |
9.2e-14 |
SMART |
|
low complexity region
|
644 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
953 |
N/A |
INTRINSIC |
|
low complexity region
|
962 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
1027 |
1044 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1048 |
1064 |
2e-5 |
PROSPERO |
|
internal_repeat_1
|
1059 |
1075 |
2e-5 |
PROSPERO |
|
low complexity region
|
1146 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231685
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018A14Rik |
T |
C |
18: 46,332,633 (GRCm39) |
|
probably benign |
Het |
| 4921524J17Rik |
T |
C |
8: 86,138,871 (GRCm39) |
I73V |
probably benign |
Het |
| 4930562C15Rik |
T |
A |
16: 4,669,429 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,939,867 (GRCm39) |
V323D |
probably damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,781 (GRCm39) |
Y320C |
probably damaging |
Het |
| Acp6 |
T |
A |
3: 97,083,036 (GRCm39) |
V349D |
possibly damaging |
Het |
| Adcy9 |
G |
T |
16: 4,235,978 (GRCm39) |
Q478K |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,369,928 (GRCm39) |
I1843V |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,397,353 (GRCm39) |
I2528F |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,082,839 (GRCm39) |
A1988T |
possibly damaging |
Het |
| Alox5 |
C |
T |
6: 116,390,508 (GRCm39) |
V490M |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,417,408 (GRCm39) |
R1537* |
probably null |
Het |
| Bmf |
G |
A |
2: 118,379,639 (GRCm39) |
P46S |
probably benign |
Het |
| Brf1 |
T |
A |
12: 112,951,703 (GRCm39) |
H92L |
probably benign |
Het |
| Chchd1 |
A |
G |
14: 20,753,245 (GRCm39) |
N35S |
probably benign |
Het |
| Cntnap3 |
C |
T |
13: 64,905,115 (GRCm39) |
G889S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,924,906 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,816,949 (GRCm39) |
|
probably null |
Het |
| Ddx27 |
T |
C |
2: 166,863,964 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,097,504 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,814,166 (GRCm39) |
V1461A |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,804,430 (GRCm39) |
R843W |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,742 (GRCm39) |
E13G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,499,909 (GRCm39) |
|
probably benign |
Het |
| Hpse2 |
T |
C |
19: 43,373,228 (GRCm39) |
S134G |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,284,345 (GRCm39) |
T3206A |
probably benign |
Het |
| Ier5l |
T |
A |
2: 30,363,966 (GRCm39) |
S20C |
probably damaging |
Het |
| Il1r1 |
A |
G |
1: 40,341,560 (GRCm39) |
E324G |
probably benign |
Het |
| Kdm4b |
C |
T |
17: 56,660,522 (GRCm39) |
|
probably benign |
Het |
| Lztfl1 |
T |
A |
9: 123,529,156 (GRCm39) |
E298D |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,815,405 (GRCm39) |
M647K |
probably damaging |
Het |
| Or13a25 |
C |
T |
7: 140,247,584 (GRCm39) |
A128V |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,274 (GRCm39) |
T138S |
probably benign |
Het |
| Or5j1 |
G |
T |
2: 86,878,632 (GRCm39) |
|
probably benign |
Het |
| Parvb |
A |
T |
15: 84,187,666 (GRCm39) |
K258M |
probably damaging |
Het |
| Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,566,372 (GRCm39) |
A1024S |
possibly damaging |
Het |
| Pde4a |
T |
C |
9: 21,122,646 (GRCm39) |
|
probably benign |
Het |
| Pgr |
A |
T |
9: 8,903,692 (GRCm39) |
H571L |
possibly damaging |
Het |
| Phf20 |
G |
T |
2: 156,144,809 (GRCm39) |
E806* |
probably null |
Het |
| Pilra |
T |
A |
5: 137,833,803 (GRCm39) |
I85F |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,480,622 (GRCm39) |
V125M |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,705 (GRCm39) |
N708S |
probably benign |
Het |
| Resf1 |
C |
T |
6: 149,230,449 (GRCm39) |
T1165M |
probably benign |
Het |
| Rnase4 |
A |
T |
14: 51,342,378 (GRCm39) |
Y34F |
probably damaging |
Het |
| Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
| Rpl9-ps6 |
T |
A |
19: 32,443,699 (GRCm39) |
T85S |
probably benign |
Het |
| Sec31a |
A |
T |
5: 100,550,217 (GRCm39) |
|
probably benign |
Het |
| Sel1l |
C |
T |
12: 91,784,064 (GRCm39) |
V459I |
probably damaging |
Het |
| Senp7 |
A |
T |
16: 55,996,186 (GRCm39) |
D755V |
possibly damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,381,985 (GRCm39) |
K151N |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,576 (GRCm39) |
F81S |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,083,502 (GRCm39) |
L162Q |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,216 (GRCm39) |
I264T |
possibly damaging |
Het |
| Tbl3 |
A |
T |
17: 24,923,018 (GRCm39) |
V379D |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,707,512 (GRCm39) |
L1762Q |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,630,501 (GRCm39) |
|
noncoding transcript |
Het |
| Ttc13 |
T |
C |
8: 125,403,083 (GRCm39) |
D552G |
probably damaging |
Het |
| Tuba3a |
G |
T |
6: 125,255,529 (GRCm39) |
T382K |
possibly damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,977 (GRCm39) |
V103E |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,307 (GRCm39) |
H139R |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,940,670 (GRCm39) |
F141Y |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,673,333 (GRCm39) |
Y143* |
probably null |
Het |
| Zfp207 |
T |
A |
11: 80,276,796 (GRCm39) |
C26S |
probably damaging |
Het |
|
| Other mutations in Scaf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Scaf8
|
APN |
17 |
3,221,409 (GRCm39) |
missense |
unknown |
|
|
IGL00956:Scaf8
|
APN |
17 |
3,221,422 (GRCm39) |
missense |
unknown |
|
|
IGL01967:Scaf8
|
APN |
17 |
3,247,213 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02005:Scaf8
|
APN |
17 |
3,236,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Scaf8
|
APN |
17 |
3,240,496 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB004:Scaf8
|
UTSW |
17 |
3,209,495 (GRCm39) |
missense |
unknown |
|
|
BB014:Scaf8
|
UTSW |
17 |
3,209,495 (GRCm39) |
missense |
unknown |
|
|
R0320:Scaf8
|
UTSW |
17 |
3,228,530 (GRCm39) |
missense |
unknown |
|
|
R0789:Scaf8
|
UTSW |
17 |
3,247,112 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0850:Scaf8
|
UTSW |
17 |
3,246,049 (GRCm39) |
splice site |
probably null |
|
|
R0919:Scaf8
|
UTSW |
17 |
3,247,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Scaf8
|
UTSW |
17 |
3,247,872 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1544:Scaf8
|
UTSW |
17 |
3,195,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1928:Scaf8
|
UTSW |
17 |
3,218,352 (GRCm39) |
missense |
unknown |
|
|
R1972:Scaf8
|
UTSW |
17 |
3,219,646 (GRCm39) |
missense |
unknown |
|
|
R2156:Scaf8
|
UTSW |
17 |
3,214,407 (GRCm39) |
splice site |
probably null |
|
|
R2164:Scaf8
|
UTSW |
17 |
3,247,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Scaf8
|
UTSW |
17 |
3,247,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3794:Scaf8
|
UTSW |
17 |
3,240,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:Scaf8
|
UTSW |
17 |
3,221,470 (GRCm39) |
missense |
unknown |
|
|
R4673:Scaf8
|
UTSW |
17 |
3,248,260 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4694:Scaf8
|
UTSW |
17 |
3,247,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Scaf8
|
UTSW |
17 |
3,227,398 (GRCm39) |
missense |
unknown |
|
|
R4852:Scaf8
|
UTSW |
17 |
3,228,494 (GRCm39) |
missense |
unknown |
|
|
R5036:Scaf8
|
UTSW |
17 |
3,214,537 (GRCm39) |
unclassified |
probably benign |
|
|
R5193:Scaf8
|
UTSW |
17 |
3,240,440 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5429:Scaf8
|
UTSW |
17 |
3,247,385 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5816:Scaf8
|
UTSW |
17 |
3,227,988 (GRCm39) |
missense |
unknown |
|
|
R6050:Scaf8
|
UTSW |
17 |
3,218,383 (GRCm39) |
missense |
unknown |
|
|
R6493:Scaf8
|
UTSW |
17 |
3,221,394 (GRCm39) |
missense |
unknown |
|
|
R6616:Scaf8
|
UTSW |
17 |
3,218,330 (GRCm39) |
missense |
unknown |
|
|
R7065:Scaf8
|
UTSW |
17 |
3,209,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Scaf8
|
UTSW |
17 |
3,213,304 (GRCm39) |
missense |
unknown |
|
|
R7141:Scaf8
|
UTSW |
17 |
3,209,457 (GRCm39) |
missense |
unknown |
|
|
R7198:Scaf8
|
UTSW |
17 |
3,213,373 (GRCm39) |
missense |
unknown |
|
|
R7265:Scaf8
|
UTSW |
17 |
3,227,900 (GRCm39) |
missense |
unknown |
|
|
R7592:Scaf8
|
UTSW |
17 |
3,221,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7711:Scaf8
|
UTSW |
17 |
3,237,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7813:Scaf8
|
UTSW |
17 |
3,247,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Scaf8
|
UTSW |
17 |
3,227,994 (GRCm39) |
missense |
unknown |
|
|
R7927:Scaf8
|
UTSW |
17 |
3,209,495 (GRCm39) |
missense |
unknown |
|
|
R7937:Scaf8
|
UTSW |
17 |
3,247,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7958:Scaf8
|
UTSW |
17 |
3,221,397 (GRCm39) |
missense |
unknown |
|
|
R7960:Scaf8
|
UTSW |
17 |
3,221,397 (GRCm39) |
missense |
unknown |
|
|
R8024:Scaf8
|
UTSW |
17 |
3,209,568 (GRCm39) |
missense |
unknown |
|
|
R8118:Scaf8
|
UTSW |
17 |
3,214,458 (GRCm39) |
missense |
unknown |
|
|
R8285:Scaf8
|
UTSW |
17 |
3,227,404 (GRCm39) |
missense |
unknown |
|
|
R8303:Scaf8
|
UTSW |
17 |
3,198,827 (GRCm39) |
missense |
unknown |
|
|
R8365:Scaf8
|
UTSW |
17 |
3,246,241 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8544:Scaf8
|
UTSW |
17 |
3,213,295 (GRCm39) |
unclassified |
probably benign |
|
|
R8768:Scaf8
|
UTSW |
17 |
3,243,349 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9520:Scaf8
|
UTSW |
17 |
3,248,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Scaf8
|
UTSW |
17 |
3,248,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9603:Scaf8
|
UTSW |
17 |
3,246,070 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9622:Scaf8
|
UTSW |
17 |
3,248,170 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9687:Scaf8
|
UTSW |
17 |
3,221,410 (GRCm39) |
missense |
unknown |
|
|
Z1088:Scaf8
|
UTSW |
17 |
3,213,258 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Scaf8
|
UTSW |
17 |
3,213,269 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation