Incidental Mutation 'R6256:Sall3'
| ID |
506153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sall3
|
| Ensembl Gene |
ENSMUSG00000024565 |
| Gene Name |
spalt like transcription factor 3 |
| Synonyms |
Salt, B130022O04Rik, Spalt, Msal, Msal-1 |
| MMRRC Submission |
044373-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6256 (G1)
|
| Quality Score |
118.008 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
81010204-81030236 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81013076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1120
(R1120H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057950]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057950
AA Change: R1120H
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: R1120H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
371 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
427 |
449 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
3.21e-4 |
SMART |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
692 |
714 |
3.99e0 |
SMART |
|
ZnF_C2H2
|
720 |
742 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
752 |
774 |
1.6e-4 |
SMART |
|
low complexity region
|
834 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
923 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1007 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1061 |
1083 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
1089 |
1111 |
5.99e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality with an impaired suckling ability, truncated soft palate, small epiglottis, and abnormal cranial nerve morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
| Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
| Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
| Ago4 |
A |
G |
4: 126,414,019 (GRCm39) |
Y91H |
probably damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
| Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
| Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
| Dnmbp |
C |
T |
19: 43,840,720 (GRCm39) |
V560M |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
| Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
| Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,229,918 (GRCm39) |
D52G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
| Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
| Mepe |
A |
T |
5: 104,484,940 (GRCm39) |
M27L |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
| Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
| Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
| Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
| Sptlc2 |
T |
C |
12: 87,402,305 (GRCm39) |
E207G |
probably damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
| Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
| Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
| Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
| Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,908,052 (GRCm39) |
T556A |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
| Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
| Xrra1 |
A |
C |
7: 99,563,671 (GRCm39) |
S553R |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
| Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
| Other mutations in Sall3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Sall3
|
APN |
18 |
81,016,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01630:Sall3
|
APN |
18 |
81,014,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01713:Sall3
|
APN |
18 |
81,013,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01803:Sall3
|
APN |
18 |
81,013,047 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02627:Sall3
|
APN |
18 |
81,015,576 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02858:Sall3
|
APN |
18 |
81,012,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03177:Sall3
|
APN |
18 |
81,016,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
fountain
|
UTSW |
18 |
81,017,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02984:Sall3
|
UTSW |
18 |
81,016,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1055:Sall3
|
UTSW |
18 |
81,013,007 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1258:Sall3
|
UTSW |
18 |
81,017,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Sall3
|
UTSW |
18 |
81,012,968 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1976:Sall3
|
UTSW |
18 |
81,015,108 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2124:Sall3
|
UTSW |
18 |
81,015,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2142:Sall3
|
UTSW |
18 |
81,013,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2199:Sall3
|
UTSW |
18 |
81,015,085 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2365:Sall3
|
UTSW |
18 |
81,015,007 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3856:Sall3
|
UTSW |
18 |
81,015,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4022:Sall3
|
UTSW |
18 |
81,013,055 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4050:Sall3
|
UTSW |
18 |
81,014,697 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4085:Sall3
|
UTSW |
18 |
81,015,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4764:Sall3
|
UTSW |
18 |
81,017,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4874:Sall3
|
UTSW |
18 |
81,017,188 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4948:Sall3
|
UTSW |
18 |
81,014,626 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5274:Sall3
|
UTSW |
18 |
81,013,052 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5602:Sall3
|
UTSW |
18 |
81,016,027 (GRCm39) |
missense |
probably benign |
|
|
R6063:Sall3
|
UTSW |
18 |
81,017,470 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6431:Sall3
|
UTSW |
18 |
81,016,402 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6523:Sall3
|
UTSW |
18 |
81,016,403 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6719:Sall3
|
UTSW |
18 |
81,014,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6861:Sall3
|
UTSW |
18 |
81,017,590 (GRCm39) |
nonsense |
probably null |
|
|
R7078:Sall3
|
UTSW |
18 |
81,017,314 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7107:Sall3
|
UTSW |
18 |
81,016,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7108:Sall3
|
UTSW |
18 |
81,016,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7453:Sall3
|
UTSW |
18 |
81,015,255 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7491:Sall3
|
UTSW |
18 |
81,015,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7496:Sall3
|
UTSW |
18 |
81,016,579 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7584:Sall3
|
UTSW |
18 |
81,017,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7599:Sall3
|
UTSW |
18 |
81,015,267 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7809:Sall3
|
UTSW |
18 |
81,017,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8244:Sall3
|
UTSW |
18 |
81,016,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8245:Sall3
|
UTSW |
18 |
81,016,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8250:Sall3
|
UTSW |
18 |
81,016,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8335:Sall3
|
UTSW |
18 |
81,012,801 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8360:Sall3
|
UTSW |
18 |
81,017,232 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8410:Sall3
|
UTSW |
18 |
81,016,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8476:Sall3
|
UTSW |
18 |
81,015,333 (GRCm39) |
nonsense |
probably null |
|
|
R8712:Sall3
|
UTSW |
18 |
81,017,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8726:Sall3
|
UTSW |
18 |
81,029,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9192:Sall3
|
UTSW |
18 |
81,017,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9653:Sall3
|
UTSW |
18 |
81,016,228 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9701:Sall3
|
UTSW |
18 |
81,017,443 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Sall3
|
UTSW |
18 |
81,015,975 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Sall3
|
UTSW |
18 |
81,017,491 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTACTGGGAGCTGAGGGATG -3'
(R):5'- GTCTAATAGAAGGTGCTCGGGG -3'
Sequencing Primer
(F):5'- GACAGAGATCTCATTGTTCTTCATGG -3'
(R):5'- GGAGTCTCCCCTAACTGCG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation