Incidental Mutation 'IGL02354:Sall1'
ID |
289617 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sall1
|
Ensembl Gene |
ENSMUSG00000031665 |
Gene Name |
spalt like transcription factor 1 |
Synonyms |
Msal-3 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.939)
|
Stock # |
IGL02354
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
89753867-89770790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 89759677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 142
(S142R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034090]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034090
AA Change: S142R
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000034090 Gene: ENSMUSG00000031665 AA Change: S142R
Domain | Start | End | E-Value | Type |
low complexity region
|
133 |
152 |
N/A |
INTRINSIC |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
low complexity region
|
229 |
257 |
N/A |
INTRINSIC |
low complexity region
|
283 |
309 |
N/A |
INTRINSIC |
low complexity region
|
361 |
396 |
N/A |
INTRINSIC |
ZnF_C2H2
|
450 |
472 |
2.57e-3 |
SMART |
ZnF_C2H2
|
478 |
500 |
3.21e-4 |
SMART |
low complexity region
|
547 |
569 |
N/A |
INTRINSIC |
ZnF_C2H2
|
705 |
727 |
3.02e0 |
SMART |
ZnF_C2H2
|
733 |
755 |
8.6e-5 |
SMART |
ZnF_C2H2
|
765 |
787 |
1.6e-4 |
SMART |
low complexity region
|
842 |
861 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1000 |
1022 |
2.91e-2 |
SMART |
ZnF_C2H2
|
1028 |
1050 |
4.94e-5 |
SMART |
ZnF_C2H2
|
1133 |
1155 |
1.38e-3 |
SMART |
ZnF_C2H2
|
1161 |
1183 |
1.22e-4 |
SMART |
low complexity region
|
1257 |
1277 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a targeted null mutation exhibit kidney agenesis or dysgenesis and die perinatally. Homozygotes expressing only a truncated protein show renal agenesis, exencephaly, and limb defects; heterozygotes have hearing loss and cystic kidneys. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
Cnga1 |
T |
C |
5: 72,774,061 (GRCm39) |
|
probably null |
Het |
Dis3 |
A |
T |
14: 99,317,148 (GRCm39) |
Y765* |
probably null |
Het |
Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,838,842 (GRCm39) |
L106P |
probably damaging |
Het |
Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
Gpr61 |
A |
G |
3: 108,057,534 (GRCm39) |
S376P |
probably damaging |
Het |
Kcna1 |
C |
A |
6: 126,619,869 (GRCm39) |
Q150H |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,581,583 (GRCm39) |
Y146C |
probably damaging |
Het |
Psmd9 |
G |
T |
5: 123,386,379 (GRCm39) |
R175I |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 82,665,393 (GRCm39) |
|
probably benign |
Het |
Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,257,319 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Sall1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01062:Sall1
|
APN |
8 |
89,759,972 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Sall1
|
APN |
8 |
89,758,199 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01795:Sall1
|
APN |
8 |
89,755,308 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02041:Sall1
|
APN |
8 |
89,758,097 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02078:Sall1
|
APN |
8 |
89,757,003 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02105:Sall1
|
APN |
8 |
89,759,196 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02727:Sall1
|
APN |
8 |
89,757,383 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Sall1
|
APN |
8 |
89,757,749 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03179:Sall1
|
APN |
8 |
89,758,289 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4651001:Sall1
|
UTSW |
8 |
89,757,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R0089:Sall1
|
UTSW |
8 |
89,756,896 (GRCm39) |
missense |
probably benign |
0.09 |
R0386:Sall1
|
UTSW |
8 |
89,759,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0532:Sall1
|
UTSW |
8 |
89,759,819 (GRCm39) |
missense |
probably benign |
|
R0555:Sall1
|
UTSW |
8 |
89,758,386 (GRCm39) |
missense |
probably benign |
0.16 |
R1203:Sall1
|
UTSW |
8 |
89,758,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R1406:Sall1
|
UTSW |
8 |
89,759,072 (GRCm39) |
missense |
probably benign |
0.34 |
R1406:Sall1
|
UTSW |
8 |
89,759,072 (GRCm39) |
missense |
probably benign |
0.34 |
R1449:Sall1
|
UTSW |
8 |
89,759,111 (GRCm39) |
missense |
probably benign |
|
R1477:Sall1
|
UTSW |
8 |
89,759,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R1692:Sall1
|
UTSW |
8 |
89,755,028 (GRCm39) |
missense |
probably benign |
0.00 |
R1839:Sall1
|
UTSW |
8 |
89,755,344 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2016:Sall1
|
UTSW |
8 |
89,755,037 (GRCm39) |
missense |
probably benign |
0.10 |
R2041:Sall1
|
UTSW |
8 |
89,759,429 (GRCm39) |
missense |
probably benign |
|
R3808:Sall1
|
UTSW |
8 |
89,758,101 (GRCm39) |
nonsense |
probably null |
|
R3816:Sall1
|
UTSW |
8 |
89,759,303 (GRCm39) |
missense |
probably benign |
0.00 |
R4085:Sall1
|
UTSW |
8 |
89,755,137 (GRCm39) |
missense |
probably benign |
|
R4604:Sall1
|
UTSW |
8 |
89,756,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4701:Sall1
|
UTSW |
8 |
89,757,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Sall1
|
UTSW |
8 |
89,755,278 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6091:Sall1
|
UTSW |
8 |
89,755,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R6213:Sall1
|
UTSW |
8 |
89,759,686 (GRCm39) |
small deletion |
probably benign |
|
R6326:Sall1
|
UTSW |
8 |
89,756,896 (GRCm39) |
missense |
probably benign |
0.09 |
R6920:Sall1
|
UTSW |
8 |
89,757,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R6954:Sall1
|
UTSW |
8 |
89,759,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R7395:Sall1
|
UTSW |
8 |
89,757,549 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7396:Sall1
|
UTSW |
8 |
89,759,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7493:Sall1
|
UTSW |
8 |
89,757,681 (GRCm39) |
missense |
probably benign |
0.32 |
R7555:Sall1
|
UTSW |
8 |
89,759,786 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7672:Sall1
|
UTSW |
8 |
89,757,927 (GRCm39) |
missense |
probably damaging |
0.99 |
R7759:Sall1
|
UTSW |
8 |
89,768,979 (GRCm39) |
critical splice donor site |
probably null |
|
R7834:Sall1
|
UTSW |
8 |
89,760,002 (GRCm39) |
missense |
probably benign |
0.42 |
R8023:Sall1
|
UTSW |
8 |
89,759,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R8166:Sall1
|
UTSW |
8 |
89,755,146 (GRCm39) |
missense |
probably benign |
0.27 |
R8708:Sall1
|
UTSW |
8 |
89,759,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9653:Sall1
|
UTSW |
8 |
89,757,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |