Incidental Mutation 'R9594:Sufu'
| ID |
723194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sufu
|
| Ensembl Gene |
ENSMUSG00000025231 |
| Gene Name |
SUFU negative regulator of hedgehog signaling |
| Synonyms |
b2b273Clo, 2810026F04Rik, Su(Fu) |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9594 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46385335-46477243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46385674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 45
(Y45H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039922]
[ENSMUST00000040270]
[ENSMUST00000111867]
[ENSMUST00000118440]
[ENSMUST00000120778]
|
| AlphaFold |
Q9Z0P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039922
AA Change: Y45H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: Y45H
| 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 benign
Transcript: ENSMUST00000040270
|
| SMART Domains |
Protein: ENSMUSP00000039844
Gene: ENSMUSG00000025228
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
9 |
376 |
4.18e-203 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111867
AA Change: Y45H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: Y45H
| 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: Y45H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
AA Change: Y45H
| 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: Y45H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112653
Gene: ENSMUSG00000025231
AA Change: Y45H
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aida |
T |
C |
1: 183,095,012 (GRCm39) |
V151A |
possibly damaging |
Het |
| Akap3 |
T |
C |
6: 126,842,377 (GRCm39) |
V332A |
probably damaging |
Het |
| Apobec3 |
T |
A |
15: 79,790,653 (GRCm39) |
W332R |
|
Het |
| Atf6 |
A |
G |
1: 170,668,402 (GRCm39) |
V166A |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,118,858 (GRCm39) |
|
probably null |
Het |
| Brd3 |
G |
T |
2: 27,340,373 (GRCm39) |
P612Q |
probably damaging |
Het |
| Btg1 |
T |
A |
10: 96,453,263 (GRCm39) |
L26H |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,030,560 (GRCm39) |
D220G |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,901,183 (GRCm39) |
D157G |
probably benign |
Het |
| Cdhr18 |
A |
T |
14: 13,814,959 (GRCm38) |
L858Q |
unknown |
Het |
| Cimip2b |
T |
G |
4: 43,427,329 (GRCm39) |
T332P |
unknown |
Het |
| Dnah10 |
T |
C |
5: 124,907,107 (GRCm39) |
L4269P |
probably damaging |
Het |
| Dync1li2 |
C |
A |
8: 105,154,752 (GRCm39) |
K285N |
possibly damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,118,740 (GRCm39) |
Q198K |
possibly damaging |
Het |
| Foxn3 |
C |
A |
12: 99,359,294 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
T |
11: 52,664,694 (GRCm39) |
P8L |
probably benign |
Het |
| G6pc1 |
T |
C |
11: 101,258,660 (GRCm39) |
I13T |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,362,470 (GRCm39) |
I356V |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,773 (GRCm39) |
C164S |
probably damaging |
Het |
| Gpcpd1 |
A |
T |
2: 132,388,848 (GRCm39) |
M308K |
possibly damaging |
Het |
| Gpr143 |
GTTTTTT |
GTTTTTTT |
X: 151,578,627 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,225,727 (GRCm39) |
K2143E |
probably benign |
Het |
| Grm2 |
G |
A |
9: 106,524,408 (GRCm39) |
T298I |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,326,455 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hcn2 |
C |
T |
10: 79,560,559 (GRCm39) |
R297C |
probably damaging |
Het |
| Hic1 |
T |
C |
11: 75,056,757 (GRCm39) |
T711A |
possibly damaging |
Het |
| Ide |
T |
C |
19: 37,264,514 (GRCm39) |
D672G |
|
Het |
| Impg1 |
A |
G |
9: 80,288,923 (GRCm39) |
F378S |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,098,128 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,156,136 (GRCm39) |
D1270G |
probably null |
Het |
| Mbnl1 |
A |
T |
3: 60,520,859 (GRCm39) |
H149L |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,978,592 (GRCm39) |
Y675H |
probably benign |
Het |
| Mrfap1 |
C |
A |
5: 36,953,807 (GRCm39) |
R44L |
probably damaging |
Het |
| Nherf2 |
G |
T |
17: 24,868,922 (GRCm39) |
T68K |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,041,889 (GRCm39) |
T1303A |
possibly damaging |
Het |
| Olfm3 |
A |
G |
3: 114,883,785 (GRCm39) |
D62G |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,638,952 (GRCm39) |
I277V |
probably benign |
Het |
| Or2i1 |
C |
G |
17: 37,508,308 (GRCm39) |
A109P |
possibly damaging |
Het |
| Or5g27 |
C |
T |
2: 85,409,882 (GRCm39) |
Q100* |
probably null |
Het |
| Or5l13 |
T |
C |
2: 87,780,544 (GRCm39) |
E11G |
probably damaging |
Het |
| Or5p59 |
T |
G |
7: 107,702,663 (GRCm39) |
I49S |
probably damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,354 (GRCm39) |
I193F |
probably benign |
Het |
| Pcbd2 |
A |
G |
13: 55,880,849 (GRCm39) |
Y68C |
probably benign |
Het |
| Phf3 |
G |
C |
1: 30,869,003 (GRCm39) |
Q682E |
probably benign |
Het |
| Ptpn6 |
C |
A |
6: 124,704,728 (GRCm39) |
R294L |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,025,026 (GRCm39) |
V1754D |
probably damaging |
Het |
| Rab36 |
T |
A |
10: 74,887,873 (GRCm39) |
I248K |
probably damaging |
Het |
| Rabac1 |
A |
G |
7: 24,671,579 (GRCm39) |
Y114H |
probably benign |
Het |
| Rag1 |
A |
G |
2: 101,474,701 (GRCm39) |
V147A |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,144 (GRCm39) |
V217D |
probably damaging |
Het |
| Scarf2 |
G |
T |
16: 17,620,473 (GRCm39) |
C101F |
probably damaging |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,672 (GRCm39) |
R230Q |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,089,100 (GRCm39) |
V550A |
probably damaging |
Het |
| Sp140 |
A |
G |
1: 85,560,235 (GRCm39) |
N289S |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,091 (GRCm39) |
E207G |
|
Het |
| Stac3 |
T |
A |
10: 127,338,654 (GRCm39) |
M1K |
probably null |
Het |
| Stk31 |
C |
T |
6: 49,424,221 (GRCm39) |
T845I |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,607,109 (GRCm39) |
C1834* |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,686,021 (GRCm39) |
T427A |
possibly damaging |
Het |
| Trim45 |
A |
G |
3: 100,830,265 (GRCm39) |
H13R |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,647,773 (GRCm39) |
F347L |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,664,238 (GRCm39) |
Q516K |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTCATCCACAGTGGGTC -3'
(R):5'- CTCACTACTCAAGGGATCCATTAAC -3'
Sequencing Primer
(F):5'- CATAGGGGCGCTTTCCC -3'
(R):5'- GGGATCCATTAACCCTTTGTCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation