Incidental Mutation 'R7958:Scaf8'
ID |
649973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaf8
|
Ensembl Gene |
ENSMUSG00000046201 |
Gene Name |
SR-related CTD-associated factor 8 |
Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
MMRRC Submission |
046002-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.761)
|
Stock # |
R7958 (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 3221397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 295
(V295M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
AlphaFold |
Q6DID3 |
Predicted Effect |
unknown
Transcript: ENSMUST00000076734
AA Change: V295M
|
SMART Domains |
Protein: ENSMUSP00000076024 Gene: ENSMUSG00000046201 AA Change: V295M
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 |
|
Meta Mutation Damage Score |
0.0894 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,911,464 (GRCm39) |
T571S |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,922,498 (GRCm39) |
Y1362H |
probably damaging |
Het |
Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
Alg8 |
T |
C |
7: 97,036,128 (GRCm39) |
C340R |
possibly damaging |
Het |
BC028528 |
T |
C |
3: 95,796,224 (GRCm39) |
D46G |
probably benign |
Het |
Cdh5 |
A |
T |
8: 104,839,649 (GRCm39) |
H40L |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,249,274 (GRCm39) |
T666A |
probably benign |
Het |
Cwc27 |
T |
C |
13: 104,941,472 (GRCm39) |
D150G |
probably benign |
Het |
Cyp2a12 |
T |
A |
7: 26,728,677 (GRCm39) |
N49K |
probably benign |
Het |
Dhrs4 |
T |
C |
14: 55,725,078 (GRCm39) |
L191P |
probably damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Fam171a1 |
T |
A |
2: 3,179,298 (GRCm39) |
S41R |
probably damaging |
Het |
Fam186a |
A |
T |
15: 99,841,189 (GRCm39) |
L1685H |
probably damaging |
Het |
Fgfr1 |
G |
T |
8: 26,022,358 (GRCm39) |
W2L |
probably benign |
Het |
Fpr-rs6 |
T |
A |
17: 20,402,705 (GRCm39) |
I219F |
probably damaging |
Het |
Gm28360 |
T |
A |
1: 117,781,409 (GRCm39) |
C133* |
probably null |
Het |
Herc1 |
A |
G |
9: 66,393,475 (GRCm39) |
D4118G |
probably damaging |
Het |
Hhatl |
A |
G |
9: 121,613,652 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,696,218 (GRCm39) |
L384H |
probably damaging |
Het |
Klhl12 |
G |
A |
1: 134,395,455 (GRCm39) |
R139K |
probably benign |
Het |
Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
Krtap19-4 |
A |
G |
16: 88,681,833 (GRCm39) |
F41S |
unknown |
Het |
Lifr |
T |
C |
15: 7,211,478 (GRCm39) |
V672A |
possibly damaging |
Het |
Lrrc25 |
A |
G |
8: 71,070,497 (GRCm39) |
T93A |
possibly damaging |
Het |
Map7 |
T |
A |
10: 20,105,575 (GRCm39) |
S9T |
unknown |
Het |
Mycbp2 |
A |
T |
14: 103,367,400 (GRCm39) |
F4281L |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,612,173 (GRCm39) |
I162V |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,732,383 (GRCm39) |
V1293A |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,340,742 (GRCm39) |
S1993P |
possibly damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Oas2 |
C |
T |
5: 120,886,831 (GRCm39) |
E112K |
probably benign |
Het |
Oosp3 |
A |
T |
19: 11,682,820 (GRCm39) |
I163F |
probably benign |
Het |
Or8a1 |
A |
G |
9: 37,641,682 (GRCm39) |
F199S |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,748,292 (GRCm39) |
E710D |
probably benign |
Het |
Plekhg4 |
A |
T |
8: 106,103,281 (GRCm39) |
D318V |
possibly damaging |
Het |
Potefam1 |
T |
C |
2: 111,000,670 (GRCm39) |
E183G |
unknown |
Het |
Ptprj |
T |
C |
2: 90,299,971 (GRCm39) |
I277V |
possibly damaging |
Het |
Ranbp17 |
A |
G |
11: 33,437,702 (GRCm39) |
S179P |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,336,537 (GRCm39) |
I690F |
probably damaging |
Het |
Serpinb1b |
A |
T |
13: 33,273,636 (GRCm39) |
K110N |
possibly damaging |
Het |
Sgsh |
T |
C |
11: 119,243,599 (GRCm39) |
N41S |
probably damaging |
Het |
Sh2d1b1 |
A |
G |
1: 170,110,704 (GRCm39) |
T67A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,480,980 (GRCm39) |
L958M |
unknown |
Het |
Spg11 |
T |
A |
2: 121,923,426 (GRCm39) |
|
probably null |
Het |
Spo11 |
T |
A |
2: 172,825,815 (GRCm39) |
D84E |
probably benign |
Het |
Spta1 |
G |
A |
1: 174,001,956 (GRCm39) |
E29K |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,040,286 (GRCm39) |
V2310A |
probably benign |
Het |
Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
Tbpl2 |
A |
T |
2: 23,985,079 (GRCm39) |
|
probably null |
Het |
Tjp3 |
C |
T |
10: 81,118,828 (GRCm39) |
V69I |
possibly damaging |
Het |
Ube3b |
T |
C |
5: 114,539,484 (GRCm39) |
V425A |
probably benign |
Het |
Vmn1r151 |
A |
T |
7: 22,198,492 (GRCm39) |
S204R |
probably damaging |
Het |
Vmn1r42 |
A |
T |
6: 89,822,059 (GRCm39) |
I170N |
probably damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,254 (GRCm39) |
S327P |
probably benign |
Het |
Vmn2r104 |
T |
C |
17: 20,262,988 (GRCm39) |
I158V |
probably benign |
Het |
Wdr49 |
T |
A |
3: 75,338,454 (GRCm39) |
M21L |
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 |
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 |
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'- ACTGCAGTAGAGTTCCTTGTG -3'
(R):5'- GCACAGCTATAAAGGTCTTTGAAAGG -3'
Sequencing Primer
(F):5'- ACTGCAGTAGAGTTCCTTGTGTGAAG -3'
(R):5'- CTAGAAAGGTCATAAAGTAGCTGGC -3'
|
Posted On |
2020-09-15 |