Incidental Mutation 'R6863:Scaf11'
| ID |
535782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf11
|
| Ensembl Gene |
ENSMUSG00000033228 |
| Gene Name |
SR-related CTD-associated factor 11 |
| Synonyms |
2610510E10Rik, Srsf2ip, SIP1, Sfrs2ip, SRRP129, CASP11, 1110061H03Rik |
| MMRRC Submission |
044963-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6863 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96309580-96358695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96317300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 755
(S755G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047835]
[ENSMUST00000227069]
[ENSMUST00000228535]
|
| AlphaFold |
E9PZM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047835
AA Change: S755G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: S755G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
41 |
81 |
1.57e-2 |
SMART |
|
low complexity region
|
308 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
978 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1108 |
N/A |
INTRINSIC |
|
low complexity region
|
1177 |
1188 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1311 |
N/A |
INTRINSIC |
|
low complexity region
|
1346 |
1359 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
1374 |
1415 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227069
AA Change: S755G
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228535
|
| Meta Mutation Damage Score |
0.0607 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,277,627 (GRCm39) |
Y278* |
probably null |
Het |
| Agap3 |
A |
T |
5: 24,657,461 (GRCm39) |
Y86F |
possibly damaging |
Het |
| Agap3 |
C |
A |
5: 24,657,462 (GRCm39) |
Y86* |
probably null |
Het |
| Ahnak |
T |
C |
19: 8,989,729 (GRCm39) |
|
probably benign |
Het |
| Arhgap45 |
G |
T |
10: 79,853,616 (GRCm39) |
E43D |
probably benign |
Het |
| Cacna1d |
A |
C |
14: 29,797,809 (GRCm39) |
I1426S |
probably damaging |
Het |
| Calhm5 |
C |
A |
10: 33,968,451 (GRCm39) |
A201S |
probably benign |
Het |
| Cdkn2a |
T |
C |
4: 89,193,003 (GRCm39) |
E159G |
probably benign |
Het |
| Cep85l |
C |
A |
10: 53,225,214 (GRCm39) |
W125L |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 94,043,647 (GRCm39) |
V431M |
possibly damaging |
Het |
| Csmd1 |
G |
A |
8: 17,584,929 (GRCm39) |
A21V |
possibly damaging |
Het |
| Ctsc |
T |
A |
7: 87,951,486 (GRCm39) |
Y243* |
probably null |
Het |
| Ctu1 |
A |
G |
7: 43,326,046 (GRCm39) |
E235G |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,668,457 (GRCm39) |
Y14C |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,137,351 (GRCm39) |
F235L |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,942,290 (GRCm39) |
S5P |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,618,614 (GRCm39) |
I3288T |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,751 (GRCm39) |
L30Q |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,968 (GRCm39) |
Y95C |
probably damaging |
Het |
| Etaa1 |
T |
A |
11: 17,903,794 (GRCm39) |
M1L |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,120 (GRCm39) |
T1068A |
probably benign |
Het |
| Eya1 |
C |
A |
1: 14,341,199 (GRCm39) |
|
probably null |
Het |
| Fat1 |
G |
T |
8: 45,497,501 (GRCm39) |
V4329L |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,691,165 (GRCm39) |
Q127L |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,792,360 (GRCm39) |
Y590S |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,860 (GRCm39) |
Q135* |
probably null |
Het |
| Greb1 |
A |
T |
12: 16,734,421 (GRCm39) |
V1523D |
probably damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,854 (GRCm39) |
N210S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,618,029 (GRCm39) |
K487E |
possibly damaging |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Kif17 |
T |
A |
4: 137,997,195 (GRCm39) |
Y139* |
probably null |
Het |
| Klhl2 |
A |
T |
8: 65,275,743 (GRCm39) |
N53K |
probably benign |
Het |
| Lrit2 |
G |
T |
14: 36,793,901 (GRCm39) |
G322C |
probably damaging |
Het |
| Macir |
T |
C |
1: 97,574,030 (GRCm39) |
T12A |
probably benign |
Het |
| Matcap1 |
T |
C |
8: 106,012,435 (GRCm39) |
D4G |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,705,943 (GRCm39) |
Q4L |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,797,225 (GRCm39) |
T1365A |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mydgf |
C |
A |
17: 56,490,789 (GRCm39) |
V35L |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,306,341 (GRCm39) |
|
probably null |
Het |
| Or10s1 |
A |
G |
9: 39,986,110 (GRCm39) |
Y173C |
probably damaging |
Het |
| Or52ad1 |
C |
T |
7: 102,996,123 (GRCm39) |
C4Y |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,223,058 (GRCm39) |
Y454C |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,437,206 (GRCm39) |
S50T |
probably benign |
Het |
| Shb |
A |
G |
4: 45,458,163 (GRCm39) |
W135R |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,264,001 (GRCm39) |
K239E |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,142,798 (GRCm39) |
V248D |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,107 (GRCm39) |
Y288* |
probably null |
Het |
| Sptbn1 |
T |
C |
11: 30,096,777 (GRCm39) |
M267V |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,471,109 (GRCm39) |
R661Q |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,397,030 (GRCm39) |
I819F |
probably damaging |
Het |
| Themis2 |
A |
T |
4: 132,516,907 (GRCm39) |
W198R |
probably damaging |
Het |
| Timd4 |
C |
G |
11: 46,706,270 (GRCm39) |
S24* |
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,800,952 (GRCm39) |
D2G |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,040,047 (GRCm39) |
D384G |
probably damaging |
Het |
| Zfp560 |
C |
A |
9: 20,259,795 (GRCm39) |
V356F |
probably damaging |
Het |
|
| Other mutations in Scaf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Scaf11
|
APN |
15 |
96,316,461 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01386:Scaf11
|
APN |
15 |
96,318,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01449:Scaf11
|
APN |
15 |
96,317,007 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01547:Scaf11
|
APN |
15 |
96,316,310 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01697:Scaf11
|
APN |
15 |
96,321,504 (GRCm39) |
splice site |
probably benign |
|
|
IGL01780:Scaf11
|
APN |
15 |
96,318,725 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02311:Scaf11
|
APN |
15 |
96,316,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02740:Scaf11
|
APN |
15 |
96,316,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02805:Scaf11
|
APN |
15 |
96,318,063 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03383:Scaf11
|
APN |
15 |
96,318,064 (GRCm39) |
splice site |
probably null |
|
|
R0173:Scaf11
|
UTSW |
15 |
96,318,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0379:Scaf11
|
UTSW |
15 |
96,329,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0508:Scaf11
|
UTSW |
15 |
96,318,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Scaf11
|
UTSW |
15 |
96,316,339 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0653:Scaf11
|
UTSW |
15 |
96,316,522 (GRCm39) |
nonsense |
probably null |
|
|
R0727:Scaf11
|
UTSW |
15 |
96,317,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Scaf11
|
UTSW |
15 |
96,316,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Scaf11
|
UTSW |
15 |
96,321,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Scaf11
|
UTSW |
15 |
96,329,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Scaf11
|
UTSW |
15 |
96,316,176 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1994:Scaf11
|
UTSW |
15 |
96,316,721 (GRCm39) |
nonsense |
probably null |
|
|
R2092:Scaf11
|
UTSW |
15 |
96,313,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2125:Scaf11
|
UTSW |
15 |
96,317,196 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2200:Scaf11
|
UTSW |
15 |
96,318,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Scaf11
|
UTSW |
15 |
96,312,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Scaf11
|
UTSW |
15 |
96,316,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4308:Scaf11
|
UTSW |
15 |
96,344,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Scaf11
|
UTSW |
15 |
96,316,309 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4519:Scaf11
|
UTSW |
15 |
96,322,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Scaf11
|
UTSW |
15 |
96,317,981 (GRCm39) |
splice site |
probably null |
|
|
R4647:Scaf11
|
UTSW |
15 |
96,317,981 (GRCm39) |
splice site |
probably null |
|
|
R4724:Scaf11
|
UTSW |
15 |
96,312,729 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4748:Scaf11
|
UTSW |
15 |
96,318,302 (GRCm39) |
nonsense |
probably null |
|
|
R4926:Scaf11
|
UTSW |
15 |
96,316,123 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4978:Scaf11
|
UTSW |
15 |
96,313,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5105:Scaf11
|
UTSW |
15 |
96,318,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Scaf11
|
UTSW |
15 |
96,317,423 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5277:Scaf11
|
UTSW |
15 |
96,317,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Scaf11
|
UTSW |
15 |
96,315,001 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5394:Scaf11
|
UTSW |
15 |
96,317,339 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5481:Scaf11
|
UTSW |
15 |
96,318,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Scaf11
|
UTSW |
15 |
96,314,962 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5941:Scaf11
|
UTSW |
15 |
96,318,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6123:Scaf11
|
UTSW |
15 |
96,318,335 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6166:Scaf11
|
UTSW |
15 |
96,322,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6504:Scaf11
|
UTSW |
15 |
96,317,341 (GRCm39) |
splice site |
probably null |
|
|
R7135:Scaf11
|
UTSW |
15 |
96,318,209 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7193:Scaf11
|
UTSW |
15 |
96,317,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Scaf11
|
UTSW |
15 |
96,318,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7790:Scaf11
|
UTSW |
15 |
96,316,942 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8056:Scaf11
|
UTSW |
15 |
96,312,698 (GRCm39) |
nonsense |
probably null |
|
|
R8104:Scaf11
|
UTSW |
15 |
96,316,483 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8129:Scaf11
|
UTSW |
15 |
96,317,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Scaf11
|
UTSW |
15 |
96,318,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Scaf11
|
UTSW |
15 |
96,316,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Scaf11
|
UTSW |
15 |
96,313,669 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8955:Scaf11
|
UTSW |
15 |
96,318,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8987:Scaf11
|
UTSW |
15 |
96,316,557 (GRCm39) |
nonsense |
probably null |
|
|
R9118:Scaf11
|
UTSW |
15 |
96,319,886 (GRCm39) |
missense |
probably benign |
|
|
R9127:Scaf11
|
UTSW |
15 |
96,312,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9534:Scaf11
|
UTSW |
15 |
96,318,209 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9628:Scaf11
|
UTSW |
15 |
96,317,398 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9630:Scaf11
|
UTSW |
15 |
96,316,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Scaf11
|
UTSW |
15 |
96,313,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Scaf11
|
UTSW |
15 |
96,316,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Scaf11
|
UTSW |
15 |
96,318,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGACCACGTTGTAGATGG -3'
(R):5'- TCTGATGCTGTTCAAGATTGTGAAG -3'
Sequencing Primer
(F):5'- TGGAATCTAGATCTTCGAGTACG -3'
(R):5'- TGCTGTTCAAGATTGTGAAGATAAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation