Incidental Mutation 'R4085:Sall1'
| ID |
317088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sall1
|
| Ensembl Gene |
ENSMUSG00000031665 |
| Gene Name |
spalt like transcription factor 1 |
| Synonyms |
Msal-3 |
| MMRRC Submission |
040979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R4085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
89753867-89770790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89755137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1281
(V1281M)
|
| 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: V1281M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034090
Gene: ENSMUSG00000031665
AA Change: V1281M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183771
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (59/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abca15 |
T |
C |
7: 119,981,949 (GRCm39) |
V1088A |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,391 (GRCm39) |
I319V |
probably benign |
Het |
| Atraid |
A |
T |
5: 31,209,650 (GRCm39) |
|
probably benign |
Het |
| Aurkaip1 |
A |
T |
4: 155,917,362 (GRCm39) |
K172N |
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,538,438 (GRCm39) |
|
probably null |
Het |
| Ccr1 |
C |
T |
9: 123,763,987 (GRCm39) |
R181H |
probably benign |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
C |
A |
1: 82,448,909 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
C |
19: 4,203,618 (GRCm39) |
V451A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,959,240 (GRCm39) |
Q177H |
probably benign |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dynlrb1 |
G |
T |
2: 155,091,896 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
| Fam20b |
T |
C |
1: 156,533,445 (GRCm39) |
D57G |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,247,591 (GRCm39) |
|
probably benign |
Het |
| Fndc4 |
A |
G |
5: 31,451,121 (GRCm39) |
I190T |
probably damaging |
Het |
| Gad1 |
G |
T |
2: 70,420,192 (GRCm39) |
A359S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm43517 |
A |
G |
12: 49,437,897 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,821,533 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Herc6 |
G |
A |
6: 57,624,054 (GRCm39) |
C608Y |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,045,746 (GRCm39) |
D2573V |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,415 (GRCm39) |
L201P |
probably damaging |
Het |
| Kdm1a |
A |
C |
4: 136,279,273 (GRCm39) |
Y762* |
probably null |
Het |
| Mef2c |
C |
T |
13: 83,723,821 (GRCm39) |
T9M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,403,131 (GRCm39) |
I413V |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,052,588 (GRCm39) |
T947A |
probably damaging |
Het |
| Nlrp5 |
C |
A |
7: 23,129,523 (GRCm39) |
N863K |
probably damaging |
Het |
| Opn1sw |
A |
G |
6: 29,380,143 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or2y13 |
T |
C |
11: 49,414,955 (GRCm39) |
I135T |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,221,579 (GRCm39) |
K15E |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,558,611 (GRCm39) |
C484R |
possibly damaging |
Het |
| Rassf2 |
C |
A |
2: 131,846,299 (GRCm39) |
G153C |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,936 (GRCm39) |
N411D |
possibly damaging |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Sall3 |
A |
T |
18: 81,015,348 (GRCm39) |
M860K |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,846,685 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
G |
16: 93,910,213 (GRCm39) |
Y205C |
possibly damaging |
Het |
| Styxl1 |
G |
A |
5: 135,788,019 (GRCm39) |
T92I |
unknown |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,473,897 (GRCm39) |
E403G |
possibly damaging |
Het |
| Tedc2 |
A |
T |
17: 24,438,813 (GRCm39) |
V168E |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,430,349 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,580 (GRCm39) |
I130T |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,757,680 (GRCm39) |
H1129R |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,096 (GRCm39) |
G528R |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,223,874 (GRCm39) |
M506K |
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 |
|
|
R3816:Sall1
|
UTSW |
8 |
89,759,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGTAGTTCATAGTCCCAGGGG -3'
(R):5'- ATGTTCCAGAAGGATCTAGCGG -3'
Sequencing Primer
(F):5'- CATAGTCCCAGGGGCCAGAAG -3'
(R):5'- ATCTAGCGGCGAGGTCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation