Incidental Mutation 'R5890:Sufu'
| ID |
457138 |
| 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 |
044091-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
46385335-46477243 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 46443172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039922]
[ENSMUST00000039922]
[ENSMUST00000039922]
[ENSMUST00000111867]
[ENSMUST00000111867]
[ENSMUST00000111867]
[ENSMUST00000118440]
[ENSMUST00000118440]
[ENSMUST00000118440]
[ENSMUST00000120778]
[ENSMUST00000120778]
[ENSMUST00000120778]
|
| AlphaFold |
Q9Z0P7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039922
|
| SMART Domains |
Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000039922
|
| SMART Domains |
Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000039922
|
| SMART Domains |
Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000111867
|
| SMART Domains |
Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000111867
|
| SMART Domains |
Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000111867
|
| SMART Domains |
Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000118440
|
| SMART Domains |
Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000118440
|
| SMART Domains |
Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000118440
|
| SMART Domains |
Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
| 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 null
Transcript: ENSMUST00000120778
|
| SMART Domains |
Protein: ENSMUSP00000112653
Gene: ENSMUSG00000025231
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120778
|
| SMART Domains |
Protein: ENSMUSP00000112653
Gene: ENSMUSG00000025231
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120778
|
| SMART Domains |
Protein: ENSMUSP00000112653
Gene: ENSMUSG00000025231
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123252
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,550,554 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,374,457 (GRCm39) |
T303N |
probably benign |
Het |
| Adamts13 |
A |
T |
2: 26,876,603 (GRCm39) |
R506W |
probably damaging |
Het |
| Adck5 |
C |
T |
15: 76,477,785 (GRCm39) |
T166M |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,687,266 (GRCm39) |
I413F |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,564,811 (GRCm39) |
D252E |
probably damaging |
Het |
| Aldh16a1 |
T |
A |
7: 44,793,969 (GRCm39) |
T636S |
probably benign |
Het |
| Ampd1 |
C |
A |
3: 102,997,391 (GRCm39) |
F264L |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,885,981 (GRCm39) |
|
probably benign |
Het |
| Babam2 |
A |
G |
5: 32,222,151 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,164,096 (GRCm39) |
Q40* |
probably null |
Het |
| Bod1l |
T |
A |
5: 41,977,921 (GRCm39) |
E1131V |
probably benign |
Het |
| Cbs |
C |
T |
17: 31,832,193 (GRCm39) |
V553M |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,454,475 (GRCm39) |
K18R |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,128,587 (GRCm39) |
Y580C |
probably damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,683,555 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cntf |
A |
G |
19: 12,741,357 (GRCm39) |
W168R |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,354,237 (GRCm39) |
D648E |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,700,936 (GRCm39) |
L294Q |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,605,414 (GRCm39) |
S532P |
probably damaging |
Het |
| Defb3 |
G |
A |
8: 19,345,200 (GRCm39) |
C52Y |
probably damaging |
Het |
| Dennd5a |
T |
G |
7: 109,533,428 (GRCm39) |
E114A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,428,039 (GRCm39) |
F222L |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,905,820 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
T |
5: 96,793,807 (GRCm39) |
H1043L |
probably benign |
Het |
| Gamt |
C |
A |
10: 80,095,741 (GRCm39) |
R63L |
possibly damaging |
Het |
| Gm1527 |
A |
G |
3: 28,969,544 (GRCm39) |
H298R |
probably benign |
Het |
| Gphb5 |
C |
T |
12: 75,462,596 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
T |
12: 16,783,422 (GRCm39) |
V104D |
possibly damaging |
Het |
| Hck |
A |
G |
2: 152,970,996 (GRCm39) |
D86G |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,833,958 (GRCm39) |
K321* |
probably null |
Het |
| Kcna5 |
C |
T |
6: 126,511,699 (GRCm39) |
R143H |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,680,264 (GRCm39) |
W867L |
possibly damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,303 (GRCm39) |
A376V |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,133,914 (GRCm39) |
M661K |
probably benign |
Het |
| Mecp2 |
C |
T |
X: 73,079,043 (GRCm39) |
V496M |
probably damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,917,651 (GRCm39) |
C132S |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,966,666 (GRCm39) |
Y356C |
probably damaging |
Het |
| Mif4gd |
G |
T |
11: 115,500,188 (GRCm39) |
A89E |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,467,482 (GRCm39) |
E593D |
probably benign |
Het |
| Mlh1 |
G |
T |
9: 111,057,563 (GRCm39) |
N749K |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,707 (GRCm39) |
*339C |
probably null |
Het |
| Nphp4 |
T |
C |
4: 152,631,536 (GRCm39) |
V812A |
probably benign |
Het |
| Nrcam |
G |
T |
12: 44,623,554 (GRCm39) |
V1048L |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,470,503 (GRCm39) |
A856V |
probably damaging |
Het |
| Osgepl1 |
T |
A |
1: 53,357,326 (GRCm39) |
F163I |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,102,121 (GRCm39) |
T438K |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,286 (GRCm39) |
M271L |
probably benign |
Het |
| Phip |
T |
C |
9: 82,789,005 (GRCm39) |
T770A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,217,734 (GRCm39) |
T166A |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,081,932 (GRCm39) |
I1102K |
probably benign |
Het |
| Sbsn |
T |
C |
7: 30,452,692 (GRCm39) |
V569A |
possibly damaging |
Het |
| Skida1 |
T |
A |
2: 18,050,814 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,789,809 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,386,535 (GRCm39) |
Y168H |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,500 (GRCm39) |
W215R |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,552,067 (GRCm39) |
L2502P |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,890,703 (GRCm39) |
E10V |
probably damaging |
Het |
| Trip11 |
T |
C |
12: 101,852,231 (GRCm39) |
E611G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,540,243 (GRCm39) |
A34248S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,776 (GRCm39) |
N49K |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,863,290 (GRCm39) |
D855G |
possibly damaging |
Het |
| Ugt8a |
A |
G |
3: 125,669,202 (GRCm39) |
S301P |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,824,534 (GRCm39) |
N1295I |
possibly damaging |
Het |
| Wdr47 |
G |
T |
3: 108,517,328 (GRCm39) |
G43C |
probably damaging |
Het |
| Wdtc1 |
A |
C |
4: 133,021,673 (GRCm39) |
L601W |
unknown |
Het |
| Zfp236 |
A |
G |
18: 82,658,276 (GRCm39) |
F614S |
possibly damaging |
Het |
| Zfp637 |
T |
A |
6: 117,822,047 (GRCm39) |
D58E |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAAGCTGATCTCAAGCTTG -3'
(R):5'- CGGGGTCCATTCAACAAGAAC -3'
Sequencing Primer
(F):5'- CCAAGCTGATCTCAAGCTTGTTGAAC -3'
(R):5'- CCTCATGCAATCCTCAGGG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation