Incidental Mutation 'R0320:Scaf8'
ID |
38315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaf8
|
Ensembl Gene |
ENSMUSG00000046201 |
Gene Name |
SR-related CTD-associated factor 8 |
Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
MMRRC Submission |
038530-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.761)
|
Stock # |
R0320 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3228530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 443
(S443P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
AlphaFold |
Q6DID3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076734
AA Change: S443P
|
SMART Domains |
Protein: ENSMUSP00000076024 Gene: ENSMUSG00000046201 AA Change: S443P
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 |
|
Meta Mutation Damage Score |
0.0960 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,571 (GRCm39) |
T465A |
probably benign |
Het |
A430110L20Rik |
T |
G |
1: 181,054,987 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl4fm1 |
A |
T |
4: 144,248,990 (GRCm39) |
H119L |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,689,746 (GRCm39) |
R439Q |
probably benign |
Het |
Abcb8 |
T |
C |
5: 24,605,788 (GRCm39) |
S199P |
probably damaging |
Het |
Adam8 |
C |
A |
7: 139,566,355 (GRCm39) |
C556F |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,750,819 (GRCm39) |
T523A |
probably benign |
Het |
Aldh3b1 |
T |
C |
19: 3,968,999 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
T |
A |
1: 171,231,372 (GRCm39) |
W230R |
possibly damaging |
Het |
Atp8b4 |
A |
G |
2: 126,301,614 (GRCm39) |
I82T |
possibly damaging |
Het |
Bptf |
A |
T |
11: 106,963,645 (GRCm39) |
L1850I |
probably damaging |
Het |
C4b |
C |
A |
17: 34,952,135 (GRCm39) |
V1237L |
probably benign |
Het |
Calu |
C |
A |
6: 29,374,550 (GRCm39) |
|
probably benign |
Het |
Cit |
C |
A |
5: 116,117,504 (GRCm39) |
L1227M |
possibly damaging |
Het |
Col4a1 |
C |
T |
8: 11,292,782 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,029,012 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
C |
11: 76,731,273 (GRCm39) |
D311G |
possibly damaging |
Het |
Ctc1 |
T |
A |
11: 68,924,363 (GRCm39) |
S972T |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,943,500 (GRCm39) |
F3201L |
possibly damaging |
Het |
Dop1b |
C |
A |
16: 93,607,035 (GRCm39) |
R2113S |
probably benign |
Het |
Dym |
T |
A |
18: 75,332,333 (GRCm39) |
D520E |
probably damaging |
Het |
Eif5a |
G |
T |
11: 69,808,305 (GRCm39) |
T64K |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,306,389 (GRCm39) |
|
probably benign |
Het |
Ints6 |
A |
T |
14: 62,945,084 (GRCm39) |
Y415* |
probably null |
Het |
Itga1 |
A |
G |
13: 115,114,130 (GRCm39) |
|
probably benign |
Het |
Itgae |
A |
G |
11: 73,021,825 (GRCm39) |
H902R |
possibly damaging |
Het |
Itprid1 |
T |
C |
6: 55,953,432 (GRCm39) |
I916T |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,366,581 (GRCm39) |
I406T |
probably benign |
Het |
Lmx1a |
C |
T |
1: 167,618,973 (GRCm39) |
Q111* |
probably null |
Het |
Lrrc25 |
T |
C |
8: 71,070,896 (GRCm39) |
Y226H |
probably benign |
Het |
Mcam |
T |
A |
9: 44,051,483 (GRCm39) |
N447K |
possibly damaging |
Het |
Mcm10 |
A |
T |
2: 5,008,897 (GRCm39) |
D357E |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,251 (GRCm39) |
T769A |
probably benign |
Het |
Ofcc1 |
G |
C |
13: 40,360,172 (GRCm39) |
Q286E |
probably benign |
Het |
Or1e23 |
T |
G |
11: 73,407,750 (GRCm39) |
I92L |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,861 (GRCm39) |
I217F |
probably benign |
Het |
Parp3 |
T |
A |
9: 106,353,011 (GRCm39) |
N55I |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,825,953 (GRCm39) |
|
probably null |
Het |
Pilrb1 |
G |
A |
5: 137,853,260 (GRCm39) |
T181I |
probably benign |
Het |
Ppm1n |
A |
G |
7: 19,012,281 (GRCm39) |
V317A |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,905,921 (GRCm39) |
F55L |
probably damaging |
Het |
Psd2 |
C |
T |
18: 36,112,697 (GRCm39) |
R131C |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,027 (GRCm39) |
C570S |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,088,442 (GRCm39) |
K190R |
probably damaging |
Het |
Spsb4 |
T |
A |
9: 96,878,161 (GRCm39) |
H54L |
probably damaging |
Het |
St7l |
T |
A |
3: 104,778,229 (GRCm39) |
L122* |
probably null |
Het |
Stom |
C |
T |
2: 35,211,646 (GRCm39) |
R125H |
probably damaging |
Het |
Tigd4 |
T |
A |
3: 84,502,481 (GRCm39) |
V466E |
probably benign |
Het |
Tmc3 |
A |
C |
7: 83,257,027 (GRCm39) |
|
probably benign |
Het |
Vcl |
C |
T |
14: 21,035,692 (GRCm39) |
|
probably benign |
Het |
Vmn1r168 |
G |
A |
7: 23,240,767 (GRCm39) |
R208H |
probably benign |
Het |
Vmn2r75 |
C |
A |
7: 85,814,288 (GRCm39) |
V402L |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,674,974 (GRCm39) |
H1698L |
probably damaging |
Het |
Wnt16 |
T |
G |
6: 22,297,992 (GRCm39) |
V286G |
possibly damaging |
Het |
Xirp1 |
C |
A |
9: 119,845,533 (GRCm39) |
V1117L |
probably benign |
Het |
Zfp788 |
C |
T |
7: 41,298,971 (GRCm39) |
H536Y |
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 |
|
IGL01610:Scaf8
|
APN |
17 |
3,246,124 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGGCATCTTTAGCATCAGACTG -3'
(R):5'- GAGGACTGTTTTCCGACACTGACTC -3'
Sequencing Primer
(F):5'- GACGAATGCCAAATGCCTTTTTTC -3'
(R):5'- CTAGAGAAGTTTAACACAAGTATGCC -3'
|
Posted On |
2013-05-23 |