Incidental Mutation 'IGL02420:Sufu'
ID |
292637 |
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 # |
IGL02420
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
46385335-46477243 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46413481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112653
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039922]
[ENSMUST00000111867]
[ENSMUST00000118440]
[ENSMUST00000120778]
|
AlphaFold |
Q9Z0P7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039922
AA Change: T121A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049109 Gene: ENSMUSG00000025231 AA Change: T121A
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: T121A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107498 Gene: ENSMUSG00000025231 AA Change: T121A
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: T121A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113073 Gene: ENSMUSG00000025231 AA Change: T121A
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 |
probably damaging
Transcript: ENSMUST00000120778
AA Change: T76A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112653 Gene: ENSMUSG00000025231 AA Change: T76A
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
34 |
N/A |
INTRINSIC |
Pfam:SUFU
|
59 |
197 |
4.8e-30 |
PFAM |
Pfam:SUFU_C
|
208 |
297 |
2e-29 |
PFAM |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,187,494 (GRCm39) |
N136S |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,659,303 (GRCm39) |
S496P |
probably damaging |
Het |
Agbl3 |
T |
A |
6: 34,762,242 (GRCm39) |
S81T |
possibly damaging |
Het |
Apobec1 |
A |
T |
6: 122,558,531 (GRCm39) |
Y75N |
probably benign |
Het |
Asic2 |
A |
G |
11: 80,772,479 (GRCm39) |
L517P |
probably benign |
Het |
Atp8a1 |
A |
G |
5: 67,840,126 (GRCm39) |
S752P |
probably damaging |
Het |
Blm |
T |
C |
7: 80,145,754 (GRCm39) |
Y775C |
probably damaging |
Het |
C1qtnf5 |
T |
C |
9: 44,019,901 (GRCm39) |
I175T |
probably benign |
Het |
Ccdc81 |
G |
A |
7: 89,524,946 (GRCm39) |
T545I |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,834,317 (GRCm39) |
E174G |
probably damaging |
Het |
Chl1 |
G |
A |
6: 103,692,330 (GRCm39) |
V1066M |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,823,103 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyren |
T |
C |
6: 34,851,404 (GRCm39) |
Y150C |
probably damaging |
Het |
Cysrt1 |
T |
C |
2: 25,129,360 (GRCm39) |
I51V |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,725,702 (GRCm39) |
N69S |
probably benign |
Het |
Fam83d |
T |
C |
2: 158,627,655 (GRCm39) |
L448P |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
Inppl1 |
G |
A |
7: 101,481,526 (GRCm39) |
|
probably benign |
Het |
Iqcc |
T |
C |
4: 129,510,748 (GRCm39) |
T256A |
probably benign |
Het |
Itprid2 |
T |
C |
2: 79,465,986 (GRCm39) |
S35P |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Lyz1 |
A |
T |
10: 117,124,535 (GRCm39) |
C134S |
probably damaging |
Het |
Mpzl3 |
T |
C |
9: 44,977,815 (GRCm39) |
I141T |
possibly damaging |
Het |
Mterf1a |
T |
C |
5: 3,941,047 (GRCm39) |
N274D |
probably damaging |
Het |
Myo18a |
T |
A |
11: 77,709,519 (GRCm39) |
V543D |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,975,852 (GRCm39) |
D1332E |
possibly damaging |
Het |
Or2r11 |
A |
G |
6: 42,437,110 (GRCm39) |
V281A |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,138,938 (GRCm39) |
D333V |
probably damaging |
Het |
Plekha7 |
A |
G |
7: 115,757,469 (GRCm39) |
Y494H |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,914,106 (GRCm39) |
N1276S |
probably damaging |
Het |
Ppig |
T |
C |
2: 69,562,571 (GRCm39) |
V5A |
probably benign |
Het |
Prag1 |
A |
T |
8: 36,614,580 (GRCm39) |
|
probably benign |
Het |
Prom1 |
T |
C |
5: 44,220,496 (GRCm39) |
N84S |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,583,929 (GRCm39) |
Y221F |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,731 (GRCm39) |
Y162H |
probably benign |
Het |
Rab2a |
C |
T |
4: 8,572,553 (GRCm39) |
T49M |
possibly damaging |
Het |
Ring1 |
A |
G |
17: 34,242,122 (GRCm39) |
S96P |
possibly damaging |
Het |
Ripk3 |
A |
G |
14: 56,022,691 (GRCm39) |
F411S |
probably benign |
Het |
Rock1 |
T |
C |
18: 10,070,619 (GRCm39) |
|
probably null |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,645 (GRCm39) |
N359S |
probably damaging |
Het |
Sugct |
C |
A |
13: 17,627,053 (GRCm39) |
V267F |
probably damaging |
Het |
Tcf4 |
A |
T |
18: 69,697,210 (GRCm39) |
R29W |
probably damaging |
Het |
Tnfsf18 |
A |
T |
1: 161,331,158 (GRCm39) |
I103L |
probably benign |
Het |
Vwf |
A |
G |
6: 125,654,879 (GRCm39) |
E2525G |
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 |
IGL01652:Sufu
|
APN |
19 |
46,464,059 (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 |
2015-04-16 |