Mutagenetix > Incidental Mutation

Incidental Mutation 'R9424:Sufu'

712538

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) question?

Stock #

R9424 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46385335-46477243 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 46474320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 465 (W465*)

Ref Sequence

ENSEMBL: ENSMUSP00000107498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039922] [ENSMUST00000111867]

AlphaFold

Q9Z0P7

Predicted Effect

probably null
Transcript: ENSMUST00000039922
AA Change: W464*

SMART Domains

Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: W464*

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
AA Change: W465*

SMART Domains

Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: W465*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ak2	A	G	4: 128,896,195 (GRCm39)	E120G	possibly damaging	Het
Akap9	C	A	5: 4,012,223 (GRCm39)	Y975*	probably null	Het
Akap9	C	T	5: 4,012,224 (GRCm39)	Q976*	probably null	Het
Bpnt1	T	C	1: 185,070,335 (GRCm39)	M9T	possibly damaging	Het
C4bp	C	A	1: 130,584,912 (GRCm39)	L41F	probably damaging	Het
Car3	A	T	3: 14,929,450 (GRCm39)	I59F		Het
Card11	T	C	5: 140,894,395 (GRCm39)	D78G	probably damaging	Het
Ccdc125	A	G	13: 100,820,876 (GRCm39)	D199G	possibly damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd48	T	A	1: 171,532,432 (GRCm39)	I237N	possibly damaging	Het
Cep295	T	C	9: 15,244,499 (GRCm39)	E1319G	probably damaging	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dennd2a	A	T	6: 39,485,294 (GRCm39)	Y328*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dip2c	A	G	13: 9,709,431 (GRCm39)	T1424A	probably damaging	Het
Dlg2	A	G	7: 92,080,325 (GRCm39)	N733S	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Fgd5	A	T	6: 91,956,017 (GRCm39)	R3*	probably null	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Gm5591	A	T	7: 38,219,721 (GRCm39)	L384Q	probably damaging	Het
Grm5	C	T	7: 87,765,484 (GRCm39)	A904V	probably benign	Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hspb7	A	G	4: 141,149,241 (GRCm39)	D49G	possibly damaging	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Kalrn	T	C	16: 33,809,188 (GRCm39)	T2567A	probably benign	Het
Kat8	T	C	7: 127,524,100 (GRCm39)	L380S	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Mgat4a	C	A	1: 37,529,436 (GRCm39)	V148F	probably damaging	Het
Mtg1	T	A	7: 139,727,212 (GRCm39)	Y238*	probably null	Het
Neb	T	A	2: 52,041,410 (GRCm39)	Q6807L	probably benign	Het
Nlrp9a	C	A	7: 26,260,178 (GRCm39)	F644L	probably benign	Het
Pcdhb15	A	G	18: 37,607,263 (GRCm39)	N165S		Het
Pcdhb5	C	A	18: 37,454,120 (GRCm39)	Q167K	probably damaging	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Piezo1	A	G	8: 123,218,079 (GRCm39)	V1220A		Het
Pkd1l1	T	C	11: 8,820,091 (GRCm39)	T1713A		Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Ppfia4	C	A	1: 134,247,044 (GRCm39)	V559F	possibly damaging	Het
Ppil6	T	C	10: 41,379,024 (GRCm39)	S224P	probably damaging	Het
Ppp2r2d	T	A	7: 138,475,978 (GRCm39)	M262K	possibly damaging	Het
Prl7d1	A	T	13: 27,894,185 (GRCm39)	M127K	probably benign	Het
Rassf9	T	A	10: 102,381,577 (GRCm39)	C320S	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Serpinb9b	A	G	13: 33,213,544 (GRCm39)	S34G	probably damaging	Het
Slc19a2	T	C	1: 164,076,895 (GRCm39)	V25A	probably damaging	Het
Slc1a2	G	A	2: 102,591,394 (GRCm39)	E375K	probably damaging	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sparcl1	A	T	5: 104,241,030 (GRCm39)	D131E	possibly damaging	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Szt2	A	G	4: 118,248,151 (GRCm39)	L691P	probably damaging	Het
Tbc1d4	A	T	14: 101,703,096 (GRCm39)	I783N	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Tmem217	C	A	17: 29,745,690 (GRCm39)	M13I	possibly damaging	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Trp53bp2	T	C	1: 182,273,864 (GRCm39)	V503A	possibly damaging	Het
Tspoap1	G	A	11: 87,652,082 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,582,347 (GRCm39)	T22849A	probably damaging	Het
Ugt2b37	A	T	5: 87,402,217 (GRCm39)	M138K	probably damaging	Het
Uimc1	A	T	13: 55,223,646 (GRCm39)	F209I	possibly damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Wdr91	A	T	6: 34,861,302 (GRCm39)	N633K	possibly damaging	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	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
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
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'- TGCAAAGAGCCTAAGCATGC -3'
(R):5'- TGCAGTCATCCCCACACTTG -3'

Sequencing Primer
(F):5'- TCCTGCAGTCTGCTGAGGTAC -3'
(R):5'- ACACTTGCCCTTTTATTCATGGGTG -3'

Posted On

2022-05-16