Incidental Mutation 'R7198:Scaf8'
| ID |
560110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf8
|
| Ensembl Gene |
ENSMUSG00000046201 |
| Gene Name |
SR-related CTD-associated factor 8 |
| Synonyms |
Rbm16, A630086M08Rik, A930036P18Rik |
| MMRRC Submission |
045337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.761)
|
| Stock # |
R7198 (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 A
at 3213373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 154
(M154K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076734]
[ENSMUST00000232048]
|
| AlphaFold |
Q6DID3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000076734
AA Change: M154K
|
| SMART Domains |
Protein: ENSMUSP00000076024
Gene: ENSMUSG00000046201
AA Change: M154K
| 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 |
probably benign
Transcript: ENSMUST00000232048
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,969,481 (GRCm39) |
S365N |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,792,550 (GRCm39) |
L526P |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,945,043 (GRCm39) |
L376Q |
probably damaging |
Het |
| Bcl9 |
T |
A |
3: 97,112,511 (GRCm39) |
M1315L |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,183 (GRCm39) |
Q837R |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,889,029 (GRCm39) |
V490A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,148,378 (GRCm39) |
Y2663C |
possibly damaging |
Het |
| Chit1 |
A |
G |
1: 134,078,229 (GRCm39) |
K346E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,683,517 (GRCm39) |
Y781C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,557,314 (GRCm39) |
L1938R |
possibly damaging |
Het |
| Cpxm2 |
T |
A |
7: 131,681,813 (GRCm39) |
N239Y |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,519,330 (GRCm39) |
Y54H |
probably benign |
Het |
| Dclk1 |
A |
C |
3: 55,385,296 (GRCm39) |
D369A |
possibly damaging |
Het |
| Dnai4 |
A |
G |
4: 102,919,610 (GRCm39) |
V498A |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,449,190 (GRCm39) |
N71S |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,642,711 (GRCm39) |
N1111K |
probably benign |
Het |
| Fer |
T |
A |
17: 64,228,683 (GRCm39) |
V186E |
possibly damaging |
Het |
| Gm11042 |
T |
A |
12: 74,361,888 (GRCm39) |
H39L |
unknown |
Het |
| Gm14325 |
A |
G |
2: 177,473,798 (GRCm39) |
I428T |
probably benign |
Het |
| Gm47995 |
A |
G |
1: 151,074,404 (GRCm39) |
E69G |
possibly damaging |
Het |
| Gm6176 |
T |
A |
7: 21,750,596 (GRCm39) |
I112F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,710 (GRCm39) |
D769E |
probably benign |
Het |
| Hsdl1 |
C |
T |
8: 120,294,607 (GRCm39) |
V40I |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,183,882 (GRCm39) |
H34R |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,366,856 (GRCm39) |
L242P |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,316 (GRCm39) |
M181V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,582 (GRCm39) |
I716N |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,784,772 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,533,962 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,634,384 (GRCm39) |
S69T |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,702,617 (GRCm39) |
R115G |
possibly damaging |
Het |
| Msgn1 |
G |
T |
12: 11,258,902 (GRCm39) |
D16E |
probably benign |
Het |
| Mthfd2l |
T |
A |
5: 91,094,705 (GRCm39) |
I58K |
probably damaging |
Het |
| Mup18 |
G |
C |
4: 61,591,573 (GRCm39) |
|
probably null |
Het |
| Nek10 |
T |
A |
14: 14,850,947 (GRCm38) |
W331R |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,881,974 (GRCm39) |
Y148C |
probably damaging |
Het |
| Or4a47 |
T |
C |
2: 89,666,076 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,760 (GRCm39) |
C177S |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,980,459 (GRCm39) |
T325A |
possibly damaging |
Het |
| Pcdha4 |
T |
A |
18: 37,086,613 (GRCm39) |
N265K |
probably damaging |
Het |
| Pigq |
C |
T |
17: 26,153,199 (GRCm39) |
V331I |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,105,329 (GRCm39) |
E598G |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,303,748 (GRCm39) |
T120M |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,726 (GRCm39) |
T240S |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,723,649 (GRCm39) |
I15F |
probably damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,318 (GRCm39) |
D256E |
unknown |
Het |
| Slc27a1 |
T |
C |
8: 72,032,071 (GRCm39) |
V64A |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,064 (GRCm39) |
R256* |
probably null |
Het |
| Snx31 |
A |
G |
15: 36,555,455 (GRCm39) |
F31L |
probably benign |
Het |
| Spag17 |
T |
C |
3: 100,002,888 (GRCm39) |
S1871P |
probably benign |
Het |
| Tdpoz4 |
T |
G |
3: 93,704,662 (GRCm39) |
S320A |
probably benign |
Het |
| Tmprss11c |
A |
T |
5: 86,379,691 (GRCm39) |
C406S |
probably damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,630 (GRCm39) |
A519V |
probably benign |
Het |
| Tssc4 |
T |
A |
7: 142,624,724 (GRCm39) |
|
probably null |
Het |
| Uba3 |
A |
T |
6: 97,182,512 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
GAACAAGTCCACAACAA |
GAACAA |
11: 84,913,681 (GRCm39) |
|
probably null |
Het |
| Wnt11 |
T |
C |
7: 98,496,588 (GRCm39) |
M176T |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,814,346 (GRCm39) |
G366D |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,255,807 (GRCm39) |
I793N |
probably damaging |
Het |
| Zfp677 |
T |
G |
17: 21,618,679 (GRCm39) |
C579G |
probably damaging |
Het |
| Zscan4-ps1 |
T |
A |
7: 10,799,626 (GRCm39) |
K421M |
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 |
|
|
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'- GGAAACAGTCTTAGAGATGTAATGTGC -3'
(R):5'- ATGAACATAAAGAGATACACCTGCCTG -3'
Sequencing Primer
(F):5'- CCTATGCTCAGATAATCTGTGAAATG -3'
(R):5'- TGTCTGCCCAGTGTAAGGACTAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation