Incidental Mutation 'R7065:Scaf8'
ID |
548542 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaf8
|
Ensembl Gene |
ENSMUSG00000046201 |
Gene Name |
SR-related CTD-associated factor 8 |
Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
MMRRC Submission |
045161-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.758)
|
Stock # |
R7065 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 3209486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 66
(V66M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
[ENSMUST00000232048]
|
AlphaFold |
Q6DID3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076734
AA Change: V70M
|
SMART Domains |
Protein: ENSMUSP00000076024 Gene: ENSMUSG00000046201 AA Change: V70M
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 |
probably damaging
Transcript: ENSMUST00000232048
AA Change: V66M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
T |
4: 53,074,233 (GRCm39) |
S1150Y |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,242,595 (GRCm39) |
V1486E |
probably benign |
Het |
Abca17 |
T |
A |
17: 24,546,725 (GRCm39) |
Y292F |
probably damaging |
Het |
Adam3 |
A |
G |
8: 25,201,691 (GRCm39) |
|
probably null |
Het |
Ankmy2 |
G |
A |
12: 36,237,707 (GRCm39) |
E269K |
probably damaging |
Het |
Cdan1 |
A |
G |
2: 120,549,402 (GRCm39) |
S1201P |
probably benign |
Het |
Cep57 |
T |
C |
9: 13,729,677 (GRCm39) |
Y122C |
probably damaging |
Het |
Cfh |
T |
A |
1: 140,014,140 (GRCm39) |
Y1210F |
probably damaging |
Het |
Cflar |
T |
G |
1: 58,770,368 (GRCm39) |
L154V |
probably damaging |
Het |
Chmp4b |
A |
G |
2: 154,533,162 (GRCm39) |
D134G |
probably damaging |
Het |
Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
Ctnna1 |
A |
T |
18: 35,285,669 (GRCm39) |
H5L |
probably benign |
Het |
Cyp2e1 |
T |
A |
7: 140,343,906 (GRCm39) |
L48Q |
probably damaging |
Het |
Dnah6 |
T |
G |
6: 73,064,545 (GRCm39) |
Q2627P |
possibly damaging |
Het |
Ehmt1 |
T |
C |
2: 24,730,709 (GRCm39) |
D569G |
probably damaging |
Het |
Frmd4a |
G |
A |
2: 4,570,923 (GRCm39) |
|
|
Het |
Fryl |
T |
C |
5: 73,248,099 (GRCm39) |
D1006G |
probably damaging |
Het |
Gclm |
A |
G |
3: 122,056,320 (GRCm39) |
N137D |
probably benign |
Het |
Gk5 |
A |
G |
9: 96,061,109 (GRCm39) |
Y531C |
probably damaging |
Het |
Gpm6a |
C |
A |
8: 55,490,493 (GRCm39) |
N56K |
probably benign |
Het |
Grik4 |
A |
C |
9: 42,455,127 (GRCm39) |
V656G |
probably damaging |
Het |
Grip2 |
C |
A |
6: 91,760,550 (GRCm39) |
|
probably null |
Het |
Gucy2c |
T |
C |
6: 136,697,764 (GRCm39) |
K636E |
probably damaging |
Het |
Ifi44l |
A |
G |
3: 151,465,429 (GRCm39) |
I107T |
|
Het |
Kif1b |
T |
C |
4: 149,286,982 (GRCm39) |
T1237A |
possibly damaging |
Het |
Klk1b11 |
A |
G |
7: 43,648,386 (GRCm39) |
D131G |
probably benign |
Het |
Lipe |
A |
G |
7: 25,084,603 (GRCm39) |
|
probably null |
Het |
Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
Madd |
A |
T |
2: 90,985,402 (GRCm39) |
M1273K |
probably benign |
Het |
Matn3 |
T |
A |
12: 9,002,472 (GRCm39) |
M228K |
probably damaging |
Het |
Mterf4 |
T |
A |
1: 93,232,617 (GRCm39) |
H78L |
probably benign |
Het |
Ncoa4 |
T |
A |
14: 31,894,857 (GRCm39) |
L128* |
probably null |
Het |
Nedd4l |
A |
G |
18: 65,329,040 (GRCm39) |
N627S |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,575,858 (GRCm39) |
|
probably null |
Het |
Nphp3 |
A |
G |
9: 103,919,189 (GRCm39) |
Y1279C |
probably damaging |
Het |
Nrp1 |
C |
A |
8: 129,187,193 (GRCm39) |
T413N |
probably benign |
Het |
Opn4 |
C |
A |
14: 34,317,834 (GRCm39) |
A267S |
probably benign |
Het |
Or4c11c |
A |
T |
2: 88,661,730 (GRCm39) |
I90F |
probably damaging |
Het |
Or5ak24 |
A |
G |
2: 85,260,523 (GRCm39) |
Y217H |
probably damaging |
Het |
Or5al6 |
A |
C |
2: 85,976,345 (GRCm39) |
H244Q |
probably damaging |
Het |
Or5p78 |
G |
A |
7: 108,212,266 (GRCm39) |
V251I |
probably damaging |
Het |
Pax3 |
T |
C |
1: 78,170,648 (GRCm39) |
|
probably null |
Het |
Pcdha12 |
A |
G |
18: 37,154,679 (GRCm39) |
E466G |
probably damaging |
Het |
Pdzk1 |
A |
G |
3: 96,775,748 (GRCm39) |
E372G |
probably benign |
Het |
Pigs |
T |
A |
11: 78,227,565 (GRCm39) |
V243D |
possibly damaging |
Het |
Pla2g5 |
C |
A |
4: 138,527,915 (GRCm39) |
C117F |
probably damaging |
Het |
Ppt2 |
A |
G |
17: 34,841,829 (GRCm39) |
S236P |
probably damaging |
Het |
Raver1 |
T |
C |
9: 21,001,590 (GRCm39) |
D81G |
probably benign |
Het |
Rpgrip1 |
T |
C |
14: 52,378,650 (GRCm39) |
L525P |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,803,068 (GRCm39) |
E662G |
probably damaging |
Het |
Scn3a |
A |
C |
2: 65,295,199 (GRCm39) |
L1508R |
probably benign |
Het |
Semp2l2b |
T |
C |
10: 21,943,197 (GRCm39) |
D261G |
probably benign |
Het |
Slfn8 |
T |
C |
11: 82,907,794 (GRCm39) |
R250G |
probably benign |
Het |
Speer4d |
A |
C |
5: 15,825,421 (GRCm39) |
T49P |
probably damaging |
Het |
Spice1 |
T |
A |
16: 44,175,898 (GRCm39) |
D32E |
probably damaging |
Het |
Stt3b |
A |
G |
9: 115,095,224 (GRCm39) |
L269P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,628,456 (GRCm39) |
I14568T |
possibly damaging |
Het |
U2surp |
T |
C |
9: 95,367,712 (GRCm39) |
T413A |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,784,049 (GRCm39) |
E755G |
probably damaging |
Het |
Unc5a |
A |
T |
13: 55,138,896 (GRCm39) |
S92C |
probably damaging |
Het |
Zfat |
T |
C |
15: 68,052,969 (GRCm39) |
Y275C |
probably damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,401 (GRCm39) |
S428T |
probably damaging |
Het |
Zfy1 |
A |
G |
Y: 725,428 (GRCm39) |
V779A |
probably benign |
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 |
|
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 |
|
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'- CGAATGGTTAACTACTAGGCAGAG -3'
(R):5'- ATCAGAGTAGCTAAGGAGTGTCAAC -3'
Sequencing Primer
(F):5'- AGAGTCTGCCTATTGATTACAGCC -3'
(R):5'- TCAACAGGAGGTCATATAATAAGGTC -3'
|
Posted On |
2019-05-13 |