Incidental Mutation 'R7112:Scaf8'
ID |
551585 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaf8
|
Ensembl Gene |
ENSMUSG00000046201 |
Gene Name |
SR-related CTD-associated factor 8 |
Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
MMRRC Submission |
045204-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.758)
|
Stock # |
R7112 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3213304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 131
(L131H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
[ENSMUST00000232048]
|
AlphaFold |
Q6DID3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076734
AA Change: L131H
|
SMART Domains |
Protein: ENSMUSP00000076024 Gene: ENSMUSG00000046201 AA Change: L131H
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 benign
Transcript: ENSMUST00000232048
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
G |
T |
12: 112,747,747 (GRCm39) |
A1036E |
|
Het |
Baz2b |
A |
T |
2: 59,792,528 (GRCm39) |
H533Q |
possibly damaging |
Het |
Bcl2l11 |
T |
A |
2: 128,000,235 (GRCm39) |
W193R |
probably damaging |
Het |
Bcl2l12 |
C |
T |
7: 44,646,338 (GRCm39) |
G24D |
probably damaging |
Het |
Cacna1b |
A |
G |
2: 24,580,773 (GRCm39) |
V691A |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,922,984 (GRCm39) |
D304G |
probably damaging |
Het |
Ces3a |
A |
T |
8: 105,784,594 (GRCm39) |
Q525H |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,151,142 (GRCm39) |
C1391F |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,962,624 (GRCm39) |
G85V |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,090,366 (GRCm39) |
V4623I |
possibly damaging |
Het |
Dnhd1 |
T |
A |
7: 105,363,192 (GRCm39) |
L3918Q |
probably damaging |
Het |
Exoc4 |
A |
T |
6: 33,898,423 (GRCm39) |
N881Y |
probably damaging |
Het |
Flt1 |
G |
C |
5: 147,540,379 (GRCm39) |
A770G |
probably damaging |
Het |
Fndc5 |
A |
G |
4: 129,035,915 (GRCm39) |
N184S |
probably benign |
Het |
Folh1 |
A |
G |
7: 86,424,845 (GRCm39) |
|
probably null |
Het |
Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
Gba2 |
A |
G |
4: 43,568,453 (GRCm39) |
V671A |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Jph2 |
G |
A |
2: 163,217,704 (GRCm39) |
T324M |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,649,758 (GRCm39) |
V937A |
probably damaging |
Het |
Kdm3a |
T |
A |
6: 71,609,154 (GRCm39) |
E24D |
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,054,018 (GRCm39) |
L464Q |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,476,210 (GRCm39) |
V1159E |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 15,929,987 (GRCm39) |
N1498D |
unknown |
Het |
Mplkipl1 |
T |
G |
19: 61,163,997 (GRCm39) |
D146A |
probably damaging |
Het |
Mrgprb5 |
C |
T |
7: 47,818,655 (GRCm39) |
V27I |
probably benign |
Het |
Mtfr2 |
A |
G |
10: 20,233,312 (GRCm39) |
N294D |
probably damaging |
Het |
Muc6 |
A |
T |
7: 141,235,542 (GRCm39) |
L498H |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,050 (GRCm39) |
T227A |
possibly damaging |
Het |
Nin |
C |
T |
12: 70,149,573 (GRCm39) |
R12Q |
|
Het |
Obscn |
G |
C |
11: 58,920,151 (GRCm39) |
A27G |
|
Het |
Or11h7 |
T |
A |
14: 50,891,583 (GRCm39) |
D296E |
probably benign |
Het |
Or4k5 |
T |
G |
14: 50,385,392 (GRCm39) |
E313A |
probably benign |
Het |
Or52r1b |
G |
A |
7: 102,690,862 (GRCm39) |
D54N |
probably damaging |
Het |
Or8b48 |
T |
A |
9: 38,493,330 (GRCm39) |
Y252* |
probably null |
Het |
Or8s5 |
T |
A |
15: 98,238,421 (GRCm39) |
M150L |
possibly damaging |
Het |
Polr2a |
A |
G |
11: 69,626,135 (GRCm39) |
S1672P |
unknown |
Het |
Qprt |
A |
G |
7: 126,707,361 (GRCm39) |
V245A |
probably damaging |
Het |
Rab11fip5 |
T |
A |
6: 85,325,176 (GRCm39) |
E377V |
probably damaging |
Het |
Rere |
A |
G |
4: 150,491,061 (GRCm39) |
T71A |
probably benign |
Het |
Ret |
A |
T |
6: 118,174,063 (GRCm39) |
L11Q |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,419,241 (GRCm39) |
V624I |
probably benign |
Het |
Scgb2a2 |
A |
G |
19: 9,829,021 (GRCm39) |
R58G |
probably benign |
Het |
Scn11a |
A |
G |
9: 119,583,875 (GRCm39) |
I1580T |
probably damaging |
Het |
Slco4c1 |
T |
G |
1: 96,768,866 (GRCm39) |
K332T |
probably damaging |
Het |
Sntg1 |
T |
G |
1: 8,518,289 (GRCm39) |
Y368S |
possibly damaging |
Het |
Stim1 |
A |
G |
7: 102,057,615 (GRCm39) |
T143A |
probably benign |
Het |
Tbr1 |
A |
G |
2: 61,642,160 (GRCm39) |
D475G |
probably benign |
Het |
Tcp1 |
A |
G |
17: 13,136,760 (GRCm39) |
D47G |
probably damaging |
Het |
Tpgs2 |
T |
C |
18: 25,282,194 (GRCm39) |
D119G |
probably damaging |
Het |
Trim40 |
C |
A |
17: 37,193,534 (GRCm39) |
R225M |
probably null |
Het |
Tro |
GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
X: 149,428,852 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,885,593 (GRCm39) |
N870Y |
probably damaging |
Het |
Tsr3 |
A |
G |
17: 25,459,445 (GRCm39) |
D47G |
probably benign |
Het |
Vil1 |
G |
A |
1: 74,455,161 (GRCm39) |
G38R |
probably damaging |
Het |
Vmn2r91 |
A |
T |
17: 18,325,880 (GRCm39) |
Q166L |
possibly damaging |
Het |
Wdr33 |
C |
T |
18: 32,026,056 (GRCm39) |
T919I |
unknown |
Het |
Wdr36 |
T |
C |
18: 32,972,504 (GRCm39) |
V64A |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 52,998,538 (GRCm39) |
I237V |
probably benign |
Het |
Zfp780b |
A |
T |
7: 27,662,566 (GRCm39) |
I663N |
probably damaging |
Het |
Zfyve9 |
G |
A |
4: 108,507,519 (GRCm39) |
A513V |
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 |
|
R7065:Scaf8
|
UTSW |
17 |
3,209,486 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGAAACAGTCTTAGAGATGTAATGTGC -3'
(R):5'- AGCCTTCAAGTCTCTTAACACTGG -3'
Sequencing Primer
(F):5'- CTATGCTCAGATAATCTGTGAA -3'
(R):5'- TGGACAAACTCCTCTGCCCTATAG -3'
|
Posted On |
2019-05-15 |