Incidental Mutation 'R8303:Scaf8'
| ID |
639354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf8
|
| Ensembl Gene |
ENSMUSG00000046201 |
| Gene Name |
SR-related CTD-associated factor 8 |
| Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
| MMRRC Submission |
067715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R8303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3198827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
| AlphaFold |
Q6DID3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000076734
AA Change: V44A
|
| SMART Domains |
Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: V44A
| 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 |
0.1369 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,966 (GRCm39) |
D149E |
probably benign |
Het |
| Aars2 |
T |
C |
17: 45,818,523 (GRCm39) |
C103R |
probably damaging |
Het |
| Aass |
T |
C |
6: 23,092,367 (GRCm39) |
D591G |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,172,205 (GRCm39) |
T1662A |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,009,327 (GRCm39) |
I520N |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,116,095 (GRCm39) |
I279T |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,294,808 (GRCm39) |
K30R |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,657,473 (GRCm39) |
R1828W |
probably benign |
Het |
| Bid |
T |
C |
6: 120,877,200 (GRCm39) |
Y47C |
probably benign |
Het |
| Card6 |
T |
C |
15: 5,134,847 (GRCm39) |
T119A |
probably benign |
Het |
| Cbr1 |
T |
C |
16: 93,406,905 (GRCm39) |
I207T |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,759,575 (GRCm39) |
L443P |
probably damaging |
Het |
| Cfap251 |
T |
A |
5: 123,460,650 (GRCm39) |
V1204E |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,754,274 (GRCm39) |
R1017* |
probably null |
Het |
| Cfap52 |
T |
A |
11: 67,830,621 (GRCm39) |
S280C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,069,022 (GRCm39) |
F81L |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,186,130 (GRCm39) |
D430G |
probably damaging |
Het |
| Cyp4f37 |
G |
A |
17: 32,853,152 (GRCm39) |
|
probably null |
Het |
| Dclre1a |
A |
G |
19: 56,531,121 (GRCm39) |
S742P |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,759,855 (GRCm39) |
F414S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,381,319 (GRCm39) |
N2688S |
probably benign |
Het |
| Elovl4 |
A |
T |
9: 83,670,320 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
C |
13: 103,966,694 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,818,724 (GRCm39) |
D4819G |
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,602,212 (GRCm39) |
P645L |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,171 (GRCm39) |
E492G |
possibly damaging |
Het |
| Gpc5 |
T |
A |
14: 115,665,667 (GRCm39) |
I497K |
probably benign |
Het |
| Hlx |
A |
G |
1: 184,459,905 (GRCm39) |
L411P |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,754,526 (GRCm39) |
I520N |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,410,412 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
C |
11: 94,953,466 (GRCm39) |
D292G |
probably benign |
Het |
| Kif21a |
T |
C |
15: 90,855,399 (GRCm39) |
N655S |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,662 (GRCm39) |
H373R |
probably benign |
Het |
| Ngdn |
A |
T |
14: 55,260,602 (GRCm39) |
H270L |
probably benign |
Het |
| Nol4 |
G |
A |
18: 23,173,231 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,702 (GRCm39) |
E114G |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,239,264 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,467 (GRCm39) |
I45V |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or8d1 |
A |
C |
9: 38,766,837 (GRCm39) |
T160P |
probably damaging |
Het |
| Or8g30 |
A |
C |
9: 39,230,689 (GRCm39) |
S74A |
probably damaging |
Het |
| Pask |
C |
A |
1: 93,248,286 (GRCm39) |
R1005L |
probably benign |
Het |
| Pcm1 |
A |
G |
8: 41,736,758 (GRCm39) |
T875A |
probably damaging |
Het |
| Pdrg1 |
A |
T |
2: 152,851,587 (GRCm39) |
I130N |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,466 (GRCm39) |
M448K |
unknown |
Het |
| R3hdml |
T |
G |
2: 163,341,832 (GRCm39) |
V204G |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,118,235 (GRCm39) |
V32M |
possibly damaging |
Het |
| Smad3 |
G |
T |
9: 63,574,760 (GRCm39) |
P177T |
probably benign |
Het |
| Smpd4 |
T |
A |
16: 17,457,195 (GRCm39) |
F384L |
probably damaging |
Het |
| Sycp2l |
G |
C |
13: 41,283,275 (GRCm39) |
L170F |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,585 (GRCm39) |
S155G |
probably benign |
Het |
| Tmem143 |
T |
A |
7: 45,565,994 (GRCm39) |
M439K |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,555,494 (GRCm39) |
T317S |
probably benign |
Het |
| Umps |
A |
G |
16: 33,784,240 (GRCm39) |
V71A |
possibly damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,389 (GRCm39) |
G228D |
possibly damaging |
Het |
| Usp17ld |
C |
T |
7: 102,900,023 (GRCm39) |
C303Y |
probably damaging |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,391 (GRCm39) |
E842* |
probably null |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,433 (GRCm39) |
F619S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,594,270 (GRCm39) |
T3154A |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,640,063 (GRCm39) |
T1311I |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,447,405 (GRCm39) |
Y353* |
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,055,765 (GRCm39) |
L146Q |
probably damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,612 (GRCm39) |
H129L |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,808,015 (GRCm39) |
F2709L |
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 |
|
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 |
|
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 |
|
|
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'- ACTTTCGATACATTCACTGTGC -3'
(R):5'- TGGACATGGAATGCTGAGCTAG -3'
Sequencing Primer
(F):5'- TCGATACATTCACTGTGCATAAATG -3'
(R):5'- TAGGTGATCCAGTACACACTTCG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation