Incidental Mutation 'R8023:Sall1'
| ID |
617534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sall1
|
| Ensembl Gene |
ENSMUSG00000031665 |
| Gene Name |
spalt like transcription factor 1 |
| Synonyms |
Msal-3 |
| MMRRC Submission |
067462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R8023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
89753867-89770790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89759171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 311
(I311T)
|
| 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: I311T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: I311T
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg2 |
A |
G |
17: 57,152,448 (GRCm39) |
Y665H |
probably damaging |
Het |
| Acte1 |
T |
C |
7: 143,445,528 (GRCm39) |
S192P |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 111,474,345 (GRCm39) |
V378E |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,327 (GRCm39) |
D274G |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
G |
6: 4,533,847 (GRCm39) |
S843A |
unknown |
Het |
| Cux1 |
T |
A |
5: 136,402,251 (GRCm39) |
I111F |
probably damaging |
Het |
| Fam24b |
A |
C |
7: 130,927,869 (GRCm39) |
S107A |
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,774,461 (GRCm39) |
C599Y |
probably damaging |
Het |
| Gm3604 |
G |
A |
13: 62,517,683 (GRCm39) |
A225V |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,277,640 (GRCm39) |
V475A |
probably benign |
Het |
| H2ac20 |
A |
G |
3: 96,128,106 (GRCm39) |
S19P |
unknown |
Het |
| Heg1 |
T |
A |
16: 33,550,895 (GRCm39) |
V958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,899,197 (GRCm39) |
M30T |
probably benign |
Het |
| Hk2 |
T |
A |
6: 82,705,790 (GRCm39) |
M838L |
probably benign |
Het |
| Hpd |
A |
G |
5: 123,314,297 (GRCm39) |
F206S |
probably damaging |
Het |
| Il34 |
C |
T |
8: 111,469,284 (GRCm39) |
C177Y |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,820,260 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,088,988 (GRCm39) |
I2240T |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,321 (GRCm39) |
|
probably null |
Het |
| Mpz |
A |
G |
1: 170,987,602 (GRCm39) |
D246G |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,421,057 (GRCm39) |
A753S |
probably benign |
Het |
| Ndufs2 |
A |
T |
1: 171,064,263 (GRCm39) |
M375K |
probably damaging |
Het |
| Obox2 |
A |
G |
7: 15,131,145 (GRCm39) |
K84E |
possibly damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,022 (GRCm39) |
I132V |
probably benign |
Het |
| Or51k1 |
A |
G |
7: 103,661,006 (GRCm39) |
I301T |
probably damaging |
Het |
| Or7e178 |
C |
T |
9: 20,225,545 (GRCm39) |
V224I |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,795,241 (GRCm39) |
L665Q |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,099 (GRCm39) |
E38G |
probably benign |
Het |
| Ptpn3 |
G |
C |
4: 57,248,688 (GRCm39) |
D215E |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,488,477 (GRCm39) |
Q987* |
probably null |
Het |
| Ranbp6 |
T |
C |
19: 29,789,222 (GRCm39) |
S377G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,594,506 (GRCm39) |
L168Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,390 (GRCm39) |
Y211C |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,859,813 (GRCm39) |
Y314F |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc6a20a |
T |
C |
9: 123,489,657 (GRCm39) |
N129D |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,336,975 (GRCm39) |
R572Q |
probably benign |
Het |
| Tbx6 |
C |
T |
7: 126,382,031 (GRCm39) |
A123V |
possibly damaging |
Het |
| Tcn2 |
A |
T |
11: 3,877,579 (GRCm39) |
I23K |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,224 (GRCm39) |
D180G |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,131,346 (GRCm39) |
L1400P |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,863,571 (GRCm39) |
T588A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,769,564 (GRCm39) |
V2741A |
unknown |
Het |
| Txlna |
A |
T |
4: 129,533,278 (GRCm39) |
S83R |
probably damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,272 (GRCm39) |
Q382* |
probably null |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,028 (GRCm39) |
V424A |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,553 (GRCm39) |
L1508I |
probably damaging |
Het |
| Zfp189 |
G |
A |
4: 49,530,312 (GRCm39) |
G472R |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,073,106 (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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGCTTATTGCGAATGCTG -3'
(R):5'- GTCACCAAATACTGCTGCTGG -3'
Sequencing Primer
(F):5'- ATTGCGAATGCTGGTGAGGAC -3'
(R):5'- AAATACTGCTGCTGGCCTCTCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation