Incidental Mutation 'IGL01652:Sufu'
| ID |
332104 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sufu
|
| Ensembl Gene |
ENSMUSG00000025231 |
| Gene Name |
SUFU negative regulator of hedgehog signaling |
| Synonyms |
b2b273Clo, 2810026F04Rik, Su(Fu) |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01652
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46385335-46477243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46464059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 424
(Y424H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039922]
[ENSMUST00000111867]
[ENSMUST00000118440]
|
| AlphaFold |
Q9Z0P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039922
AA Change: Y424H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: Y424H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
34 |
N/A |
INTRINSIC |
|
Pfam:SUFU
|
63 |
242 |
2.9e-38 |
PFAM |
|
Pfam:SUFU_C
|
252 |
473 |
1.6e-99 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111867
AA Change: Y425H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: Y425H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
34 |
N/A |
INTRINSIC |
|
Pfam:SUFU
|
64 |
241 |
4.9e-54 |
PFAM |
|
Pfam:SUFU_C
|
254 |
474 |
2.3e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118440
AA Change: Y424H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
AA Change: Y424H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
34 |
N/A |
INTRINSIC |
|
Pfam:SUFU
|
63 |
242 |
3.2e-38 |
PFAM |
|
Pfam:SUFU_C
|
252 |
436 |
9.8e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123252
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(32) : Targeted(7) Gene trapped(25)
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
T |
17: 72,910,526 (GRCm39) |
V60E |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,690 (GRCm39) |
K868R |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,929,397 (GRCm39) |
D158V |
probably damaging |
Het |
| Arhgap12 |
G |
T |
18: 6,061,853 (GRCm39) |
N380K |
possibly damaging |
Het |
| Cpn1 |
A |
T |
19: 43,974,533 (GRCm39) |
F65L |
possibly damaging |
Het |
| Dlec1 |
T |
A |
9: 118,972,975 (GRCm39) |
H1496Q |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,379,226 (GRCm39) |
|
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,009,543 (GRCm39) |
N143D |
probably damaging |
Het |
| Fcmr |
C |
T |
1: 130,806,244 (GRCm39) |
P363L |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,738,685 (GRCm39) |
T171A |
probably benign |
Het |
| Hrh3 |
G |
T |
2: 179,742,896 (GRCm39) |
P244Q |
possibly damaging |
Het |
| Icam1 |
T |
C |
9: 20,930,472 (GRCm39) |
Y109H |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,023,187 (GRCm39) |
V132A |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,913 (GRCm39) |
Y286N |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,132,716 (GRCm39) |
I707V |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,949 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
T |
7: 110,046,327 (GRCm39) |
V290E |
probably damaging |
Het |
| Stard3 |
T |
G |
11: 98,269,559 (GRCm39) |
|
probably benign |
Het |
| Trim35 |
T |
G |
14: 66,546,250 (GRCm39) |
V339G |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,063 (GRCm39) |
I58V |
probably benign |
Het |
|
| Other mutations in Sufu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Sufu
|
APN |
19 |
46,439,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01613:Sufu
|
APN |
19 |
46,464,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Sufu
|
APN |
19 |
46,413,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Sufu
|
APN |
19 |
46,439,349 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02984:Sufu
|
UTSW |
19 |
46,462,038 (GRCm39) |
missense |
probably benign |
|
|
P0018:Sufu
|
UTSW |
19 |
46,463,933 (GRCm39) |
splice site |
probably benign |
|
|
R0172:Sufu
|
UTSW |
19 |
46,385,563 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0280:Sufu
|
UTSW |
19 |
46,439,112 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Sufu
|
UTSW |
19 |
46,389,703 (GRCm39) |
splice site |
probably null |
|
|
R1295:Sufu
|
UTSW |
19 |
46,443,159 (GRCm39) |
splice site |
probably benign |
|
|
R1296:Sufu
|
UTSW |
19 |
46,443,159 (GRCm39) |
splice site |
probably benign |
|
|
R1420:Sufu
|
UTSW |
19 |
46,385,623 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1846:Sufu
|
UTSW |
19 |
46,439,386 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2061:Sufu
|
UTSW |
19 |
46,385,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Sufu
|
UTSW |
19 |
46,413,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4151:Sufu
|
UTSW |
19 |
46,438,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4744:Sufu
|
UTSW |
19 |
46,472,069 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4751:Sufu
|
UTSW |
19 |
46,472,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4959:Sufu
|
UTSW |
19 |
46,463,991 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4973:Sufu
|
UTSW |
19 |
46,463,991 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5221:Sufu
|
UTSW |
19 |
46,439,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5890:Sufu
|
UTSW |
19 |
46,443,172 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6030:Sufu
|
UTSW |
19 |
46,463,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6030:Sufu
|
UTSW |
19 |
46,463,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6226:Sufu
|
UTSW |
19 |
46,462,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Sufu
|
UTSW |
19 |
46,464,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Sufu
|
UTSW |
19 |
46,438,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Sufu
|
UTSW |
19 |
46,439,405 (GRCm39) |
splice site |
probably null |
|
|
R7095:Sufu
|
UTSW |
19 |
46,464,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Sufu
|
UTSW |
19 |
46,441,716 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7390:Sufu
|
UTSW |
19 |
46,439,108 (GRCm39) |
splice site |
probably null |
|
|
R8190:Sufu
|
UTSW |
19 |
46,389,636 (GRCm39) |
nonsense |
probably null |
|
|
R9424:Sufu
|
UTSW |
19 |
46,474,320 (GRCm39) |
nonsense |
probably null |
|
|
R9433:Sufu
|
UTSW |
19 |
46,385,532 (GRCm39) |
start gained |
probably benign |
|
|
R9550:Sufu
|
UTSW |
19 |
46,385,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9594:Sufu
|
UTSW |
19 |
46,385,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation