Incidental Mutation 'R6923:Sufu'
| ID |
539764 |
| 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 |
045381-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6923 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46385335-46477243 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 46439405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039922]
[ENSMUST00000111867]
[ENSMUST00000118440]
[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: 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: 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Albfm1 |
A |
G |
5: 90,725,652 (GRCm39) |
N288S |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,719,530 (GRCm39) |
D81E |
probably benign |
Het |
| Atg16l1 |
A |
T |
1: 87,702,078 (GRCm39) |
|
probably null |
Het |
| Atp11a |
A |
G |
8: 12,906,949 (GRCm39) |
T459A |
probably damaging |
Het |
| Bloc1s5 |
T |
A |
13: 38,815,040 (GRCm39) |
I40F |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,165,452 (GRCm39) |
S1323T |
possibly damaging |
Het |
| Capn5 |
T |
A |
7: 97,778,461 (GRCm39) |
Q386L |
probably damaging |
Het |
| Cbfa2t2 |
C |
T |
2: 154,376,903 (GRCm39) |
H529Y |
probably damaging |
Het |
| Cd3d |
T |
C |
9: 44,897,157 (GRCm39) |
|
probably benign |
Het |
| Cenpa |
A |
G |
5: 30,829,806 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
T |
1: 134,077,163 (GRCm39) |
Y322F |
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,399,345 (GRCm39) |
N399K |
possibly damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,970 (GRCm39) |
T417S |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,814,454 (GRCm39) |
|
probably null |
Het |
| Fkbp2 |
A |
G |
19: 6,956,537 (GRCm39) |
|
|
Het |
| Fsip1 |
G |
A |
2: 118,080,394 (GRCm39) |
R121C |
probably benign |
Het |
| Gbp2b |
T |
C |
3: 142,306,320 (GRCm39) |
I131T |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,658,053 (GRCm39) |
N39D |
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,616 (GRCm39) |
R369G |
probably damaging |
Het |
| Gpatch3 |
C |
T |
4: 133,309,836 (GRCm39) |
L390F |
probably damaging |
Het |
| Gpd2 |
G |
A |
2: 57,245,800 (GRCm39) |
M443I |
probably damaging |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,343 (GRCm39) |
T445A |
possibly damaging |
Het |
| Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
| Me3 |
C |
A |
7: 89,495,093 (GRCm39) |
A337E |
probably damaging |
Het |
| Mndal |
A |
C |
1: 173,712,264 (GRCm39) |
|
probably null |
Het |
| Msantd5l |
C |
T |
11: 51,144,808 (GRCm39) |
D158N |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,217,453 (GRCm39) |
E2342K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,076,076 (GRCm39) |
V5659A |
probably damaging |
Het |
| Nkapd1 |
T |
A |
9: 50,521,610 (GRCm39) |
I104L |
probably benign |
Het |
| Nrxn1 |
G |
A |
17: 91,395,661 (GRCm39) |
A165V |
probably benign |
Het |
| Or5b94 |
T |
A |
19: 12,652,409 (GRCm39) |
I280N |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,676 (GRCm39) |
N156S |
probably benign |
Het |
| Orc2 |
A |
G |
1: 58,539,534 (GRCm39) |
L35S |
probably benign |
Het |
| Pax4 |
A |
G |
6: 28,447,118 (GRCm39) |
|
probably null |
Het |
| Pcdhb7 |
C |
T |
18: 37,475,522 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
C |
T |
2: 60,345,310 (GRCm39) |
E349K |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,676 (GRCm39) |
I89N |
probably benign |
Het |
| Prpf38a |
G |
T |
4: 108,427,401 (GRCm39) |
D187E |
possibly damaging |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,737 (GRCm39) |
|
probably null |
Het |
| S100z |
T |
A |
13: 95,615,090 (GRCm39) |
D25V |
probably damaging |
Het |
| Scamp2 |
T |
G |
9: 57,488,895 (GRCm39) |
F199V |
probably damaging |
Het |
| Semp2l2b |
C |
A |
10: 21,943,654 (GRCm39) |
G109C |
probably damaging |
Het |
| Senp2 |
T |
G |
16: 21,830,326 (GRCm39) |
|
probably benign |
Het |
| Sltm |
T |
A |
9: 70,481,892 (GRCm39) |
S365T |
probably damaging |
Het |
| Smg6 |
C |
G |
11: 74,820,169 (GRCm39) |
P147A |
possibly damaging |
Het |
| Spem2 |
T |
A |
11: 69,708,603 (GRCm39) |
R121W |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,674,501 (GRCm39) |
V313A |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,185,102 (GRCm39) |
|
probably null |
Het |
| Tfeb |
T |
A |
17: 48,097,908 (GRCm39) |
I232N |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,341,601 (GRCm39) |
I1062M |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vrk2 |
G |
A |
11: 26,439,893 (GRCm39) |
A226V |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,942,639 (GRCm39) |
|
probably benign |
Het |
| Xpo4 |
G |
T |
14: 57,841,168 (GRCm39) |
T505K |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,594 (GRCm39) |
I86F |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,487,400 (GRCm39) |
D73G |
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 |
|
|
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 |
|
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'- ATCCCACCTGTAGAGTTCTTGC -3'
(R):5'- CTTGCTTTTCTGGGCTGAAATC -3'
Sequencing Primer
(F):5'- GGCACTCAGTTCTCTGTGGTC -3'
(R):5'- GAAATCTCTGTTTTCCTATGTGAGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation