Incidental Mutation 'IGL02105:Sall1'
| ID |
279947 |
| 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 # |
IGL02105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
89753867-89770790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 89759196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 303
(S303R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034090]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034090
AA Change: S303R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: S303R
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
G |
T |
3: 95,587,374 (GRCm39) |
P734H |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,288,590 (GRCm39) |
I14N |
probably damaging |
Het |
| Asap3 |
G |
T |
4: 135,955,785 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,433 (GRCm39) |
|
probably benign |
Het |
| Bbs12 |
T |
C |
3: 37,374,296 (GRCm39) |
L248P |
probably damaging |
Het |
| Brd3 |
A |
T |
2: 27,349,788 (GRCm39) |
I255N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,879,921 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,659,116 (GRCm39) |
D25E |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,199,651 (GRCm39) |
K1325R |
probably damaging |
Het |
| Dnmt1 |
T |
A |
9: 20,819,178 (GRCm39) |
E1486V |
unknown |
Het |
| Dock2 |
T |
C |
11: 34,605,352 (GRCm39) |
N256D |
probably damaging |
Het |
| Dpp3 |
G |
A |
19: 4,966,799 (GRCm39) |
S408L |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,075,892 (GRCm39) |
G2992R |
probably damaging |
Het |
| Eef1a1 |
T |
C |
9: 78,387,833 (GRCm39) |
D35G |
probably benign |
Het |
| Fntb |
A |
G |
12: 76,909,263 (GRCm39) |
K84E |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,871,588 (GRCm39) |
|
probably null |
Het |
| Glb1l3 |
T |
A |
9: 26,729,823 (GRCm39) |
I516F |
probably damaging |
Het |
| Hltf |
A |
G |
3: 20,146,921 (GRCm39) |
N560S |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,099,041 (GRCm39) |
N1443S |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,902,289 (GRCm39) |
I1330K |
probably benign |
Het |
| Krt20 |
C |
T |
11: 99,328,827 (GRCm39) |
V33M |
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,825,640 (GRCm39) |
T487A |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,883,952 (GRCm39) |
E63G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,380,448 (GRCm39) |
V3901A |
probably damaging |
Het |
| Lrrc17 |
A |
G |
5: 21,775,255 (GRCm39) |
I272M |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,132,674 (GRCm39) |
Q1865L |
unknown |
Het |
| Mtg1 |
T |
C |
7: 139,730,119 (GRCm39) |
L305P |
probably damaging |
Het |
| Mylk4 |
T |
A |
13: 32,904,545 (GRCm39) |
E427D |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,354,711 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,292,660 (GRCm39) |
E1104G |
probably damaging |
Het |
| Obox5 |
A |
G |
7: 15,492,500 (GRCm39) |
M152V |
probably benign |
Het |
| Olfm2 |
C |
T |
9: 20,583,476 (GRCm39) |
V203M |
probably damaging |
Het |
| Or2l13 |
T |
G |
16: 19,306,011 (GRCm39) |
L141R |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,891 (GRCm39) |
H228L |
possibly damaging |
Het |
| Pf4 |
A |
G |
5: 90,921,114 (GRCm39) |
S105G |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,631,040 (GRCm39) |
I228N |
probably damaging |
Het |
| Setd5 |
A |
G |
6: 113,094,541 (GRCm39) |
E486G |
probably damaging |
Het |
| Slc9a5 |
C |
T |
8: 106,076,075 (GRCm39) |
P23S |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,040,653 (GRCm39) |
I390N |
probably damaging |
Het |
| Trp53 |
T |
C |
11: 69,479,329 (GRCm39) |
V169A |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,262,131 (GRCm39) |
D791G |
probably damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,417 (GRCm39) |
S266P |
possibly damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,308 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,846,063 (GRCm39) |
G940E |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,580,845 (GRCm39) |
C89* |
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 |
|
IGL02354:Sall1
|
APN |
8 |
89,759,677 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
Incidental Mutation