Incidental Mutation 'R2680:Scaf8'
| ID |
250968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf8
|
| Ensembl Gene |
ENSMUSG00000046201 |
| Gene Name |
SR-related CTD-associated factor 8 |
| Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
| MMRRC Submission |
040433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.758)
|
| Stock # |
R2680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3247866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1063
(V1063A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
| AlphaFold |
Q6DID3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076734
AA Change: V1063A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: V1063A
| 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: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC024139 |
A |
G |
15: 76,005,939 (GRCm39) |
W421R |
probably damaging |
Het |
| Car11 |
T |
C |
7: 45,351,909 (GRCm39) |
S113P |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,510,267 (GRCm39) |
A582T |
possibly damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,722,133 (GRCm39) |
T283A |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,419,043 (GRCm39) |
I1118V |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,971 (GRCm39) |
Q1199* |
probably null |
Het |
| Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
| Cspp1 |
A |
G |
1: 10,174,530 (GRCm39) |
D661G |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,466,474 (GRCm39) |
Q729R |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,924,751 (GRCm39) |
I2168V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,609,681 (GRCm39) |
R2821H |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,196,133 (GRCm39) |
V42A |
probably benign |
Het |
| Evc |
A |
G |
5: 37,467,581 (GRCm39) |
V566A |
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,164,656 (GRCm39) |
Y290C |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,539,364 (GRCm39) |
R171G |
probably damaging |
Het |
| Galnt17 |
G |
A |
5: 131,140,661 (GRCm39) |
P152L |
probably damaging |
Het |
| Gfi1 |
A |
G |
5: 107,869,297 (GRCm39) |
L245P |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,027,237 (GRCm39) |
K7E |
possibly damaging |
Het |
| Ifit3b |
A |
G |
19: 34,589,705 (GRCm39) |
N294D |
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,541,265 (GRCm39) |
Y230C |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,232,875 (GRCm39) |
V1953I |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,490 (GRCm39) |
D14G |
probably damaging |
Het |
| Il12rb2 |
T |
A |
6: 67,331,789 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgae |
T |
A |
11: 73,005,752 (GRCm39) |
D305E |
probably damaging |
Het |
| Kif23 |
A |
C |
9: 61,844,758 (GRCm39) |
D90E |
probably benign |
Het |
| Kprp |
A |
G |
3: 92,731,770 (GRCm39) |
F427L |
unknown |
Het |
| Lmnb1 |
T |
A |
18: 56,864,177 (GRCm39) |
Y261N |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,016,981 (GRCm39) |
V17A |
probably benign |
Het |
| Mfap4 |
T |
C |
11: 61,378,057 (GRCm39) |
Y190H |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,065,085 (GRCm39) |
|
probably null |
Het |
| Mocos |
C |
A |
18: 24,809,686 (GRCm39) |
Q430K |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,774,822 (GRCm39) |
F794L |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,296,201 (GRCm39) |
I197F |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,361,235 (GRCm39) |
L343P |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,070,291 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,148,655 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,342,157 (GRCm39) |
L496* |
probably null |
Het |
| Nom1 |
T |
C |
5: 29,648,415 (GRCm39) |
F654S |
probably damaging |
Het |
| Or4k2 |
A |
T |
14: 50,424,304 (GRCm39) |
Y123* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,639 (GRCm39) |
K540E |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,608,933 (GRCm39) |
N1974S |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,131 (GRCm39) |
|
probably null |
Het |
| Pik3ca |
C |
T |
3: 32,490,697 (GRCm39) |
R115* |
probably null |
Het |
| Pik3ca |
T |
C |
3: 32,498,034 (GRCm39) |
I492T |
probably benign |
Het |
| Ppp1ca |
G |
A |
19: 4,244,594 (GRCm39) |
E218K |
possibly damaging |
Het |
| Prex1 |
G |
T |
2: 166,443,692 (GRCm39) |
D492E |
possibly damaging |
Het |
| Scn3a |
G |
T |
2: 65,366,880 (GRCm39) |
N47K |
probably benign |
Het |
| Sec61a2 |
G |
T |
2: 5,878,556 (GRCm39) |
N348K |
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,234,715 (GRCm39) |
E166G |
probably damaging |
Het |
| Slc19a2 |
C |
A |
1: 164,076,982 (GRCm39) |
T54K |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,249,113 (GRCm39) |
I765F |
probably damaging |
Het |
| Snap91 |
A |
T |
9: 86,761,603 (GRCm39) |
M1K |
probably null |
Het |
| Spef1l |
T |
C |
7: 139,558,474 (GRCm39) |
D41G |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,195,592 (GRCm39) |
H1619R |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,245,615 (GRCm39) |
T207M |
possibly damaging |
Het |
| Tchp |
T |
C |
5: 114,847,580 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
T |
4: 43,539,668 (GRCm39) |
F1581Y |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,594 (GRCm39) |
V2469A |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,055 (GRCm39) |
F165L |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,322,178 (GRCm39) |
D173G |
possibly damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,445,707 (GRCm39) |
S673A |
possibly damaging |
Het |
| Vta1 |
G |
A |
10: 14,581,171 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,766,756 (GRCm39) |
T500A |
probably benign |
Het |
| Zfp784 |
T |
A |
7: 5,039,116 (GRCm39) |
Q147H |
possibly 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 |
|
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 |
|
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'- TTTTCTGGCCCCTGGAAGAC -3'
(R):5'- AAATCGGTAATTTCCAGCCCG -3'
Sequencing Primer
(F):5'- CCACTTGGGAATGACAATATTCAGC -3'
(R):5'- TCGGTAATTTCCAGCCCGAAATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation