Incidental Mutation 'R1488:Scaf8'
| ID |
165521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf8
|
| Ensembl Gene |
ENSMUSG00000046201 |
| Gene Name |
SR-related CTD-associated factor 8 |
| Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
| MMRRC Submission |
039540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R1488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 3247872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1065
(M1065R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
| AlphaFold |
Q6DID3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076734
AA Change: M1065R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: M1065R
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
G |
6: 48,910,381 (GRCm39) |
N691S |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,391,685 (GRCm39) |
S1401G |
possibly damaging |
Het |
| Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
| Atg4c |
T |
A |
4: 99,109,479 (GRCm39) |
W149R |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,460,049 (GRCm39) |
I71T |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,176,530 (GRCm39) |
L748F |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 135,002,602 (GRCm39) |
Y157C |
probably damaging |
Het |
| C2cd4a |
G |
T |
9: 67,738,990 (GRCm39) |
R18S |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,560,526 (GRCm39) |
H839R |
probably damaging |
Het |
| Ccdc24 |
C |
A |
4: 117,727,765 (GRCm39) |
S134I |
possibly damaging |
Het |
| Cd55 |
G |
T |
1: 130,376,115 (GRCm39) |
T70K |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,789,925 (GRCm39) |
K470N |
possibly damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,755 (GRCm39) |
Q91* |
probably null |
Het |
| Ctsh |
G |
A |
9: 89,953,944 (GRCm39) |
D218N |
possibly damaging |
Het |
| Cyb5r4 |
C |
G |
9: 86,911,591 (GRCm39) |
Y88* |
probably null |
Het |
| Dgkq |
A |
G |
5: 108,798,743 (GRCm39) |
F601S |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,161,916 (GRCm39) |
V352A |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,255,997 (GRCm39) |
T421A |
probably benign |
Het |
| Lamp5 |
T |
C |
2: 135,911,011 (GRCm39) |
V248A |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,515,850 (GRCm39) |
L483Q |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,392,036 (GRCm39) |
M509I |
probably benign |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,354 (GRCm39) |
V253A |
probably damaging |
Het |
| Mpdz |
C |
A |
4: 81,266,945 (GRCm39) |
E981* |
probably null |
Het |
| Mpo |
A |
C |
11: 87,688,256 (GRCm39) |
N305T |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,385,945 (GRCm39) |
E195G |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,733,859 (GRCm39) |
I143V |
probably benign |
Het |
| Or5p79 |
A |
T |
7: 108,221,696 (GRCm39) |
I226F |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,614,490 (GRCm39) |
S69P |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,941 (GRCm39) |
T470A |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,705,247 (GRCm39) |
D884G |
possibly damaging |
Het |
| Prex2 |
T |
A |
1: 11,263,752 (GRCm39) |
I1239K |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,592,364 (GRCm39) |
F625I |
probably damaging |
Het |
| Rab20 |
A |
T |
8: 11,504,268 (GRCm39) |
V144E |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,371,715 (GRCm39) |
N4840S |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,996,449 (GRCm39) |
L319P |
possibly damaging |
Het |
| Slit1 |
A |
G |
19: 41,596,824 (GRCm39) |
C1092R |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,786 (GRCm39) |
D193G |
probably damaging |
Het |
| Tmem145 |
T |
A |
7: 25,006,860 (GRCm39) |
|
probably null |
Het |
| Tmem184a |
T |
A |
5: 139,793,395 (GRCm39) |
K235N |
probably benign |
Het |
| Tnpo1 |
A |
T |
13: 98,993,415 (GRCm39) |
D590E |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,741,053 (GRCm39) |
G2724V |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,696,301 (GRCm39) |
Y34F |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,045 (GRCm39) |
T190A |
probably benign |
Het |
| Tubgcp4 |
T |
G |
2: 121,007,031 (GRCm39) |
V136G |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,510 (GRCm39) |
I270T |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,922 (GRCm39) |
E238V |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,137 (GRCm39) |
F313L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,731,752 (GRCm39) |
Y310H |
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 |
|
|
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 |
|
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'- ACATTCGCCCAGGACTGATAGCAC -3'
(R):5'- GACCAAATCCTCTGTTCCAAGGACC -3'
Sequencing Primer
(F):5'- ATCGGTACTTGATGCAGCTC -3'
(R):5'- GGATCAAATCGGTAATTTCCAGCC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation