Incidental Mutation 'R5429:Scaf8'
ID |
427096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaf8
|
Ensembl Gene |
ENSMUSG00000046201 |
Gene Name |
SR-related CTD-associated factor 8 |
Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
MMRRC Submission |
042995-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.761)
|
Stock # |
R5429 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 3247385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 903
(P903T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
AlphaFold |
Q6DID3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076734
AA Change: P903T
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000076024 Gene: ENSMUSG00000046201 AA Change: P903T
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
G |
7: 75,252,652 (GRCm39) |
S261A |
possibly damaging |
Het |
Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
Auts2 |
G |
A |
5: 131,501,173 (GRCm39) |
T289M |
probably damaging |
Het |
Btaf1 |
G |
A |
19: 36,972,257 (GRCm39) |
V1331I |
possibly damaging |
Het |
Ciz1 |
T |
A |
2: 32,266,055 (GRCm39) |
I609K |
possibly damaging |
Het |
Clca3b |
C |
T |
3: 144,552,220 (GRCm39) |
V154I |
probably damaging |
Het |
Csde1 |
A |
G |
3: 102,960,157 (GRCm39) |
T564A |
possibly damaging |
Het |
Csrnp2 |
A |
G |
15: 100,379,935 (GRCm39) |
V452A |
probably benign |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,744,177 (GRCm39) |
D677G |
probably damaging |
Het |
Filip1l |
A |
T |
16: 57,390,618 (GRCm39) |
E402V |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ghr |
G |
A |
15: 3,418,157 (GRCm39) |
Q37* |
probably null |
Het |
Gm10770 |
C |
T |
2: 150,021,343 (GRCm39) |
R58H |
probably benign |
Het |
Gm12789 |
T |
C |
4: 101,847,158 (GRCm39) |
Y148H |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,110,792 (GRCm39) |
N234K |
probably benign |
Het |
Itih3 |
A |
G |
14: 30,645,478 (GRCm39) |
V10A |
probably benign |
Het |
Kat14 |
T |
A |
2: 144,235,243 (GRCm39) |
D234E |
probably benign |
Het |
Kif13a |
A |
G |
13: 46,926,245 (GRCm39) |
|
probably null |
Het |
Kif2b |
A |
G |
11: 91,468,055 (GRCm39) |
V76A |
probably benign |
Het |
Mboat1 |
A |
G |
13: 30,403,650 (GRCm39) |
T150A |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,507,293 (GRCm39) |
L398H |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nfx1 |
T |
C |
4: 41,004,343 (GRCm39) |
C705R |
probably damaging |
Het |
Or13a27 |
A |
G |
7: 139,925,186 (GRCm39) |
F239L |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,350 (GRCm39) |
N175Y |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,338,635 (GRCm39) |
S931P |
probably benign |
Het |
Pdpk1 |
T |
C |
17: 24,310,534 (GRCm39) |
E205G |
probably benign |
Het |
Ppp2r2a |
A |
T |
14: 67,261,205 (GRCm39) |
F172I |
probably damaging |
Het |
Ppp2r5e |
T |
A |
12: 75,500,537 (GRCm39) |
D452V |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,208,751 (GRCm39) |
T185S |
probably damaging |
Het |
Rpusd4 |
T |
C |
9: 35,183,898 (GRCm39) |
V209A |
probably benign |
Het |
Safb |
T |
C |
17: 56,895,822 (GRCm39) |
V20A |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,800,574 (GRCm39) |
S31P |
possibly damaging |
Het |
Slc9b1 |
T |
C |
3: 135,079,024 (GRCm39) |
|
probably null |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Tbc1d32 |
T |
C |
10: 55,904,089 (GRCm39) |
D1226G |
probably damaging |
Het |
Tlnrd1 |
G |
T |
7: 83,531,522 (GRCm39) |
T303N |
probably damaging |
Het |
Tmc1 |
G |
T |
19: 20,766,986 (GRCm39) |
N738K |
possibly damaging |
Het |
Tmem41a |
A |
G |
16: 21,753,606 (GRCm39) |
I255T |
probably benign |
Het |
Trim7 |
G |
A |
11: 48,740,782 (GRCm39) |
C293Y |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,634,075 (GRCm39) |
Q385* |
probably null |
Het |
Ttc39b |
A |
G |
4: 83,162,190 (GRCm39) |
I330T |
possibly damaging |
Het |
Vil1 |
C |
T |
1: 74,471,490 (GRCm39) |
T757I |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,060,077 (GRCm39) |
V1201A |
probably damaging |
Het |
Zfp473 |
T |
A |
7: 44,382,272 (GRCm39) |
E686V |
possibly damaging |
Het |
Zfp998 |
G |
A |
13: 66,579,887 (GRCm39) |
P199S |
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 |
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'- GGGTTCGTCCAGCTAATGTTTCC -3'
(R):5'- GCTGCATCAAGTACCGATGG -3'
Sequencing Primer
(F):5'- TCCAACAGTGCTGCAATTATGGG -3'
(R):5'- CATCAAGTACCGATGGGGGAG -3'
|
Posted On |
2016-09-01 |