Incidental Mutation 'R6397:Sall2'
| ID |
516042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sall2
|
| Ensembl Gene |
ENSMUSG00000049532 |
| Gene Name |
spalt like transcription factor 2 |
| Synonyms |
Msal-2 |
| MMRRC Submission |
044545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6397 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52548634-52566127 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52552610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 195
(H195L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058326]
[ENSMUST00000135523]
|
| AlphaFold |
Q9QX96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058326
AA Change: H195L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: H195L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
372 |
394 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
1.28e-3 |
SMART |
|
low complexity region
|
476 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
627 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
629 |
651 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
657 |
679 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
689 |
711 |
6.88e-4 |
SMART |
|
low complexity region
|
719 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
848 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
908 |
930 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
937 |
960 |
1.01e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135523
AA Change: H193L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.5055 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
94% (29/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in no apparent abnormal phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Cdh1 |
T |
C |
8: 107,330,922 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dipk1a |
T |
A |
5: 108,059,504 (GRCm39) |
K105* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,705,308 (GRCm39) |
V1137A |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
| Ifi203 |
C |
A |
1: 173,754,770 (GRCm39) |
V654L |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,813,355 (GRCm39) |
L787P |
probably damaging |
Het |
| Kazald1 |
A |
G |
19: 45,065,317 (GRCm39) |
E66G |
probably benign |
Het |
| Map4 |
T |
A |
9: 109,856,784 (GRCm39) |
D151E |
possibly damaging |
Het |
| Msrb3 |
G |
A |
10: 120,627,356 (GRCm39) |
T42I |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,679,156 (GRCm39) |
C744Y |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,487,827 (GRCm39) |
H836L |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,582,152 (GRCm39) |
N653D |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,971 (GRCm39) |
Y139C |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,338 (GRCm39) |
T39A |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,558 (GRCm39) |
S313T |
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,488,516 (GRCm39) |
R65* |
probably null |
Het |
| Phf8-ps |
T |
C |
17: 33,285,219 (GRCm39) |
N528D |
probably benign |
Het |
| Pstpip2 |
T |
G |
18: 77,961,079 (GRCm39) |
C221G |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sptbn2 |
A |
T |
19: 4,792,446 (GRCm39) |
E1367V |
possibly damaging |
Het |
| Stau1 |
A |
G |
2: 166,792,927 (GRCm39) |
V346A |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,353,173 (GRCm39) |
E871G |
unknown |
Het |
| Tlr9 |
A |
G |
9: 106,102,305 (GRCm39) |
N532S |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,738 (GRCm39) |
A400T |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,131 (GRCm39) |
Y828* |
probably null |
Het |
| Vps45 |
A |
G |
3: 95,950,164 (GRCm39) |
I255T |
probably benign |
Het |
| Yap1 |
T |
C |
9: 8,001,467 (GRCm39) |
Y173C |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,055 (GRCm39) |
I821F |
probably benign |
Het |
| Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
|
| Other mutations in Sall2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01587:Sall2
|
APN |
14 |
52,552,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Sall2
|
APN |
14 |
52,552,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02318:Sall2
|
APN |
14 |
52,553,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02933:Sall2
|
APN |
14 |
52,550,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03165:Sall2
|
APN |
14 |
52,551,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1079:Sall2
|
UTSW |
14 |
52,550,660 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1295:Sall2
|
UTSW |
14 |
52,551,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Sall2
|
UTSW |
14 |
52,551,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Sall2
|
UTSW |
14 |
52,551,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Sall2
|
UTSW |
14 |
52,551,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2339:Sall2
|
UTSW |
14 |
52,550,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Sall2
|
UTSW |
14 |
52,565,561 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3870:Sall2
|
UTSW |
14 |
52,551,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3895:Sall2
|
UTSW |
14 |
52,551,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4059:Sall2
|
UTSW |
14 |
52,552,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Sall2
|
UTSW |
14 |
52,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Sall2
|
UTSW |
14 |
52,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:Sall2
|
UTSW |
14 |
52,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Sall2
|
UTSW |
14 |
52,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4503:Sall2
|
UTSW |
14 |
52,550,916 (GRCm39) |
missense |
probably benign |
|
|
R4592:Sall2
|
UTSW |
14 |
52,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Sall2
|
UTSW |
14 |
52,551,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Sall2
|
UTSW |
14 |
52,550,207 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4640:Sall2
|
UTSW |
14 |
52,552,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4693:Sall2
|
UTSW |
14 |
52,551,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Sall2
|
UTSW |
14 |
52,552,850 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5007:Sall2
|
UTSW |
14 |
52,551,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Sall2
|
UTSW |
14 |
52,553,112 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5079:Sall2
|
UTSW |
14 |
52,552,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Sall2
|
UTSW |
14 |
52,550,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Sall2
|
UTSW |
14 |
52,551,704 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6229:Sall2
|
UTSW |
14 |
52,550,648 (GRCm39) |
missense |
probably benign |
|
|
R6422:Sall2
|
UTSW |
14 |
52,550,181 (GRCm39) |
makesense |
probably null |
|
|
R6456:Sall2
|
UTSW |
14 |
52,551,051 (GRCm39) |
nonsense |
probably null |
|
|
R6456:Sall2
|
UTSW |
14 |
52,551,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Sall2
|
UTSW |
14 |
52,552,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Sall2
|
UTSW |
14 |
52,551,868 (GRCm39) |
nonsense |
probably null |
|
|
R7496:Sall2
|
UTSW |
14 |
52,553,018 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7792:Sall2
|
UTSW |
14 |
52,553,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Sall2
|
UTSW |
14 |
52,550,343 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9017:Sall2
|
UTSW |
14 |
52,550,719 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9149:Sall2
|
UTSW |
14 |
52,550,673 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9362:Sall2
|
UTSW |
14 |
52,550,601 (GRCm39) |
nonsense |
probably null |
|
|
R9571:Sall2
|
UTSW |
14 |
52,551,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Sall2
|
UTSW |
14 |
52,551,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9641:Sall2
|
UTSW |
14 |
52,550,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Sall2
|
UTSW |
14 |
52,551,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Sall2
|
UTSW |
14 |
52,552,124 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTGTCTTGCCAGTTTGC -3'
(R):5'- ATCTTCTGGGCAATTCCTGGTC -3'
Sequencing Primer
(F):5'- CGCTGGCTTGATGGGAC -3'
(R):5'- ATTCCTGGTCGCTGCCACAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation