Incidental Mutation 'IGL01613:Sufu'
| ID |
92278 |
| 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 # |
IGL01613
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
G |
5: 125,589,716 (GRCm39) |
M446R |
possibly damaging |
Het |
| Abca16 |
A |
G |
7: 120,140,500 (GRCm39) |
N1599S |
probably benign |
Het |
| Ankib1 |
G |
A |
5: 3,763,146 (GRCm39) |
Q528* |
probably null |
Het |
| Ano10 |
A |
T |
9: 122,088,606 (GRCm39) |
L347M |
possibly damaging |
Het |
| Bag6 |
T |
C |
17: 35,361,992 (GRCm39) |
|
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,086,191 (GRCm39) |
V182A |
possibly damaging |
Het |
| Capn13 |
G |
T |
17: 73,638,053 (GRCm39) |
T450N |
probably benign |
Het |
| Cbr3 |
A |
T |
16: 93,480,331 (GRCm39) |
E40V |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,955,126 (GRCm39) |
I159T |
probably damaging |
Het |
| Cela3b |
T |
C |
4: 137,152,382 (GRCm39) |
D65G |
possibly damaging |
Het |
| Csf2rb |
T |
G |
15: 78,219,502 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,497,713 (GRCm39) |
H687R |
probably benign |
Het |
| Elovl1 |
T |
C |
4: 118,288,467 (GRCm39) |
V108A |
probably benign |
Het |
| Emb |
T |
A |
13: 117,408,614 (GRCm39) |
N318K |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,617,339 (GRCm39) |
L36P |
probably damaging |
Het |
| Esco2 |
T |
G |
14: 66,064,044 (GRCm39) |
H380P |
possibly damaging |
Het |
| Gm9747 |
G |
A |
1: 82,211,809 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,910,138 (GRCm39) |
M603T |
probably benign |
Het |
| Hsph1 |
A |
G |
5: 149,550,743 (GRCm39) |
V411A |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
| Ints11 |
T |
C |
4: 155,969,655 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,258,112 (GRCm39) |
A253S |
probably damaging |
Het |
| Met |
A |
G |
6: 17,540,576 (GRCm39) |
Y834C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,024,984 (GRCm39) |
T2A |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,088,170 (GRCm39) |
V1929L |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,192,536 (GRCm39) |
S1472P |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,248,555 (GRCm39) |
|
probably benign |
Het |
| Ndufaf7 |
A |
G |
17: 79,244,931 (GRCm39) |
I17V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,666,152 (GRCm39) |
T46A |
probably damaging |
Het |
| Or5ak22 |
C |
T |
2: 85,230,515 (GRCm39) |
D121N |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,284 (GRCm39) |
S230T |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,492 (GRCm39) |
I248M |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,617 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
G |
9: 38,517,850 (GRCm39) |
I30V |
probably null |
Het |
| Or8k1 |
T |
G |
2: 86,047,505 (GRCm39) |
D183A |
probably damaging |
Het |
| Ppef2 |
T |
C |
5: 92,383,679 (GRCm39) |
E477G |
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,387,097 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
C |
A |
2: 66,116,281 (GRCm39) |
D1473Y |
probably damaging |
Het |
| Sdr42e1 |
C |
T |
8: 118,389,676 (GRCm39) |
V322I |
probably benign |
Het |
| Slco1a7 |
G |
T |
6: 141,658,940 (GRCm39) |
T552K |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,035,960 (GRCm39) |
A1089T |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,183 (GRCm39) |
F108L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,805,308 (GRCm39) |
N177S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,031,872 (GRCm39) |
D401G |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,614,067 (GRCm39) |
F650L |
possibly damaging |
Het |
| Wdr12 |
T |
C |
1: 60,119,718 (GRCm39) |
H385R |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,660,880 (GRCm39) |
M745V |
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 |
|
IGL01652: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 |
2013-12-09 |
Incidental Mutation