Incidental Mutation 'R3816:Sall1'
| ID |
274313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sall1
|
| Ensembl Gene |
ENSMUSG00000031665 |
| Gene Name |
spalt like transcription factor 1 |
| Synonyms |
Msal-3 |
| MMRRC Submission |
040881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R3816 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
89753867-89770790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89759303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 267
(A267E)
|
| 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: A267E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: A267E
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,336,083 (GRCm39) |
Y2151C |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,853,123 (GRCm39) |
H509L |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,652,036 (GRCm39) |
D441G |
probably benign |
Het |
| Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
| As3mt |
A |
T |
19: 46,696,216 (GRCm39) |
D8V |
probably benign |
Het |
| Ass1 |
G |
T |
2: 31,400,117 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,451 (GRCm39) |
I634V |
possibly damaging |
Het |
| Cflar |
T |
C |
1: 58,791,582 (GRCm39) |
V298A |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Dlec1 |
C |
T |
9: 118,953,911 (GRCm39) |
A610V |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 134,346,015 (GRCm39) |
R186* |
probably null |
Het |
| E130018O15Rik |
T |
C |
5: 35,540,110 (GRCm39) |
|
noncoding transcript |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gipc2 |
T |
C |
3: 151,871,481 (GRCm39) |
K15R |
probably benign |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Glipr2 |
G |
T |
4: 43,977,522 (GRCm39) |
A51S |
possibly damaging |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| H2-M10.2 |
A |
T |
17: 36,597,254 (GRCm39) |
Y20* |
probably null |
Het |
| Hapstr1 |
T |
A |
16: 8,648,358 (GRCm39) |
I12N |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 93,933,947 (GRCm39) |
V242A |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,454,894 (GRCm39) |
I110M |
possibly damaging |
Het |
| Il18r1 |
T |
C |
1: 40,526,132 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Khk |
T |
C |
5: 31,084,060 (GRCm39) |
S80P |
probably damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,460,926 (GRCm39) |
V706A |
probably benign |
Het |
| Npat |
T |
C |
9: 53,481,216 (GRCm39) |
S1008P |
probably damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,027 (GRCm39) |
I214T |
probably damaging |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,017 (GRCm39) |
D844G |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,844,834 (GRCm39) |
D1375G |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,199 (GRCm39) |
D47G |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpina3k |
A |
G |
12: 104,307,221 (GRCm39) |
E151G |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc51b |
A |
G |
9: 65,321,300 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Star |
G |
A |
8: 26,299,905 (GRCm39) |
M82I |
probably benign |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,885,210 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,399,602 (GRCm39) |
T1028A |
probably benign |
Het |
| Xrn2 |
G |
A |
2: 146,870,120 (GRCm39) |
G270R |
probably damaging |
Het |
| Zbbx |
G |
T |
3: 74,992,802 (GRCm39) |
Q231K |
probably benign |
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 |
|
|
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'- CATGTTGGGAGAAGTGCCAC -3'
(R):5'- AATCTCCAGAGCACCAAGGTAG -3'
Sequencing Primer
(F):5'- GGAGCTGCTCTGAGGTAGC -3'
(R):5'- TAGCGGTGGCCCAGTTCTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation