Incidental Mutation 'R9521:Scaf8'
ID |
718912 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaf8
|
Ensembl Gene |
ENSMUSG00000046201 |
Gene Name |
SR-related CTD-associated factor 8 |
Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.758)
|
Stock # |
R9521 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
3165247-3249134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3248285 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1203
(R1203W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
|
AlphaFold |
Q6DID3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076734
AA Change: R1203W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000076024 Gene: ENSMUSG00000046201 AA Change: R1203W
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
C |
13: 119,608,778 (GRCm39) |
|
probably null |
Het |
A030005K14Rik |
C |
A |
1: 83,036,980 (GRCm39) |
G17V |
unknown |
Het |
Afap1l1 |
C |
T |
18: 61,879,863 (GRCm39) |
A336T |
probably benign |
Het |
Akap8 |
C |
T |
17: 32,530,036 (GRCm39) |
R395H |
possibly damaging |
Het |
Ankrd26 |
G |
A |
6: 118,517,420 (GRCm39) |
A467V |
possibly damaging |
Het |
Ano9 |
A |
T |
7: 140,682,227 (GRCm39) |
S683T |
probably benign |
Het |
Aox3 |
C |
A |
1: 58,164,222 (GRCm39) |
A164E |
probably benign |
Het |
Apc |
T |
C |
18: 34,445,738 (GRCm39) |
I878T |
probably benign |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
Atg9b |
T |
C |
5: 24,593,107 (GRCm39) |
N432S |
probably benign |
Het |
Atp1b3 |
A |
G |
9: 96,227,911 (GRCm39) |
F49L |
probably damaging |
Het |
Cacnb2 |
A |
T |
2: 14,609,138 (GRCm39) |
|
probably benign |
Het |
Ccdc180 |
T |
A |
4: 45,916,283 (GRCm39) |
L828Q |
probably null |
Het |
Chd3 |
C |
T |
11: 69,249,133 (GRCm39) |
R748Q |
probably benign |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Cldn18 |
T |
A |
9: 99,581,028 (GRCm39) |
|
probably null |
Het |
Cmklr1 |
C |
T |
5: 113,752,480 (GRCm39) |
V174I |
probably benign |
Het |
Cyp2d22 |
A |
T |
15: 82,256,688 (GRCm39) |
V362D |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,501,763 (GRCm39) |
K1810R |
probably damaging |
Het |
Duox1 |
T |
A |
2: 122,159,216 (GRCm39) |
V661E |
possibly damaging |
Het |
Ercc2 |
G |
A |
7: 19,125,899 (GRCm39) |
R518Q |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,841,471 (GRCm39) |
L1591P |
probably damaging |
Het |
Fam186b |
G |
T |
15: 99,178,419 (GRCm39) |
D302E |
probably benign |
Het |
Fap |
T |
C |
2: 62,372,500 (GRCm39) |
D326G |
probably benign |
Het |
Gm42669 |
T |
A |
5: 107,655,892 (GRCm39) |
D135E |
|
Het |
Keap1 |
A |
T |
9: 21,143,136 (GRCm39) |
V463E |
probably damaging |
Het |
Mga |
T |
C |
2: 119,794,979 (GRCm39) |
S2888P |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,722,118 (GRCm39) |
D403G |
probably damaging |
Het |
Mios |
C |
T |
6: 8,233,171 (GRCm39) |
T773I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,835,845 (GRCm39) |
D79G |
possibly damaging |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
Or8k35 |
C |
A |
2: 86,424,771 (GRCm39) |
V134F |
|
Het |
Orc6 |
T |
C |
8: 86,026,615 (GRCm39) |
V20A |
possibly damaging |
Het |
Peli2 |
A |
G |
14: 48,490,052 (GRCm39) |
K175E |
probably benign |
Het |
Plec |
C |
G |
15: 76,062,924 (GRCm39) |
R2382P |
possibly damaging |
Het |
Ppp1r12b |
T |
A |
1: 134,705,063 (GRCm39) |
D875V |
probably damaging |
Het |
Pramel6 |
T |
A |
2: 87,340,629 (GRCm39) |
C320* |
probably null |
Het |
Qrich2 |
A |
T |
11: 116,339,208 (GRCm39) |
M26K |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,624,291 (GRCm39) |
I1006V |
probably benign |
Het |
Rasgrp3 |
T |
A |
17: 75,821,158 (GRCm39) |
L455Q |
probably null |
Het |
Senp6 |
C |
T |
9: 79,974,687 (GRCm39) |
|
probably benign |
Het |
Senp7 |
A |
G |
16: 55,992,144 (GRCm39) |
Y700C |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,915,246 (GRCm39) |
|
probably null |
Het |
Slc12a7 |
G |
A |
13: 73,947,087 (GRCm39) |
V592I |
probably benign |
Het |
Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
Tdp1 |
T |
C |
12: 99,877,906 (GRCm39) |
V396A |
probably damaging |
Het |
Ticam1 |
T |
C |
17: 56,578,388 (GRCm39) |
T236A |
probably benign |
Het |
Tob1 |
AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC |
AGCAGCAGCAGCAGCAGCAGCC |
11: 94,105,205 (GRCm39) |
|
probably benign |
Het |
Ttc21a |
C |
A |
9: 119,787,181 (GRCm39) |
D729E |
probably damaging |
Het |
Ubtd2 |
T |
C |
11: 32,449,432 (GRCm39) |
I93T |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,808,586 (GRCm39) |
D224G |
probably benign |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,916,626 (GRCm39) |
E413G |
probably damaging |
Het |
Zfp423 |
A |
T |
8: 88,509,033 (GRCm39) |
L437Q |
probably damaging |
Het |
Zfp810 |
A |
G |
9: 22,190,227 (GRCm39) |
V227A |
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 |
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 |
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'- AGTGGTCCTTGGAACAGAGG -3'
(R):5'- ACTGAGTGATGTTATGTCCCCTC -3'
Sequencing Primer
(F):5'- GTTCACAGAGATTTTGATGACCGCAG -3'
(R):5'- GAGTGATGTTATGTCCCCTCAGTCTC -3'
|
Posted On |
2022-07-18 |