Incidental Mutation 'R2041:Sall1'
| ID |
224934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sall1
|
| Ensembl Gene |
ENSMUSG00000031665 |
| Gene Name |
spalt like transcription factor 1 |
| Synonyms |
Msal-3 |
| MMRRC Submission |
040048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R2041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
89753867-89770790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89759429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 225
(L225P)
|
| 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: L225P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: L225P
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,211 (GRCm39) |
D265E |
probably damaging |
Het |
| 2610021A01Rik |
A |
G |
7: 41,275,403 (GRCm39) |
R369G |
possibly damaging |
Het |
| Actr3b |
T |
C |
5: 25,965,128 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
A |
T |
15: 11,215,821 (GRCm39) |
M281L |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
| Akap12 |
C |
T |
10: 4,306,489 (GRCm39) |
P1100S |
probably benign |
Het |
| Alox8 |
T |
A |
11: 69,088,517 (GRCm39) |
H40L |
possibly damaging |
Het |
| Anks1 |
T |
A |
17: 28,227,388 (GRCm39) |
F659L |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,656,508 (GRCm39) |
R1506L |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,495,252 (GRCm39) |
T36A |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,601,827 (GRCm39) |
L448Q |
probably damaging |
Het |
| Ccdc17 |
T |
G |
4: 116,456,789 (GRCm39) |
N497K |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,996,530 (GRCm39) |
I164T |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,411,765 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,505,984 (GRCm39) |
D669E |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,195,033 (GRCm39) |
I482T |
probably damaging |
Het |
| Csf3 |
C |
T |
11: 98,592,483 (GRCm39) |
S65L |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,049,922 (GRCm39) |
Y1049H |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,050,422 (GRCm39) |
D3048G |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,832,617 (GRCm39) |
|
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,084,070 (GRCm39) |
K195R |
probably damaging |
Het |
| Epn1 |
T |
C |
7: 5,086,874 (GRCm39) |
S41P |
probably damaging |
Het |
| Fam120a |
C |
A |
13: 49,051,243 (GRCm39) |
V721L |
probably benign |
Het |
| Fchsd1 |
T |
A |
18: 38,100,729 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
G |
A |
15: 58,430,155 (GRCm39) |
G194D |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
C |
15: 6,674,268 (GRCm39) |
T635P |
possibly damaging |
Het |
| Gpr153 |
A |
G |
4: 152,367,810 (GRCm39) |
S554G |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,622,347 (GRCm39) |
F459L |
probably damaging |
Het |
| H60c |
C |
T |
10: 3,209,972 (GRCm39) |
G105D |
probably damaging |
Het |
| Ifnlr1 |
T |
A |
4: 135,433,148 (GRCm39) |
M528K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,945,987 (GRCm39) |
D790V |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,591,139 (GRCm39) |
|
probably benign |
Het |
| Mis12 |
T |
A |
11: 70,916,132 (GRCm39) |
I55N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,175,399 (GRCm39) |
Y103H |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Ndst3 |
C |
A |
3: 123,465,864 (GRCm39) |
G36V |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,149,611 (GRCm39) |
M406K |
probably damaging |
Het |
| Or4p18 |
T |
C |
2: 88,232,568 (GRCm39) |
T237A |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,170 (GRCm39) |
V156E |
probably damaging |
Het |
| Or5b106 |
A |
T |
19: 13,124,041 (GRCm39) |
|
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,408,131 (GRCm39) |
D29V |
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,141 (GRCm39) |
N293S |
probably damaging |
Het |
| Pars2 |
A |
G |
4: 106,510,814 (GRCm39) |
T199A |
probably damaging |
Het |
| Plcb4 |
C |
T |
2: 135,780,191 (GRCm39) |
T172I |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,354 (GRCm39) |
W476R |
probably benign |
Het |
| Psg23 |
T |
A |
7: 18,348,703 (GRCm39) |
S35C |
possibly damaging |
Het |
| Pycr3 |
T |
A |
15: 75,791,144 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,960 (GRCm39) |
F80S |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,079,651 (GRCm39) |
I284T |
possibly damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,663,846 (GRCm39) |
T290I |
possibly damaging |
Het |
| Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,525,294 (GRCm39) |
L39P |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,296,973 (GRCm39) |
R269L |
probably damaging |
Het |
| Vrk2 |
A |
T |
11: 26,497,914 (GRCm39) |
I90K |
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,839,796 (GRCm39) |
C352S |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAAGGCTCTGTGCTAATC -3'
(R):5'- GGTACCTCAGCGATCACAAC -3'
Sequencing Primer
(F):5'- ACCGCCAGCTGTTGAGAC -3'
(R):5'- AACCTCTCTACCTCAACTGGGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation