Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Sufu'

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, Su(Fu), 2810026F04Rik

Accession Numbers

Ncbi RefSeq: NM_015752.2; NM_001025391.1; MGI:1345643

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

46396896-46488804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46475620 bp (GRCm38)

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

Strain: 3512046; 3619046
Lethality: E9-E11
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: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Sufu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Sufu	APN	19	46450943	missense	probably damaging	1.00
IGL01652:Sufu	APN	19	46475620	missense	probably damaging	1.00
IGL02420:Sufu	APN	19	46425042	missense	probably damaging	1.00
IGL02501:Sufu	APN	19	46450910	missense	probably benign	0.04
IGL02984:Sufu	UTSW	19	46473599	missense	probably benign
P0018:Sufu	UTSW	19	46475494	splice site	probably benign
R0172:Sufu	UTSW	19	46397124	missense	possibly damaging	0.86
R0280:Sufu	UTSW	19	46450673	splice site	probably benign
R1175:Sufu	UTSW	19	46401264	splice site	probably null
R1295:Sufu	UTSW	19	46454720	splice site	probably benign
R1296:Sufu	UTSW	19	46454720	splice site	probably benign
R1420:Sufu	UTSW	19	46397184	missense	probably benign	0.36
R1846:Sufu	UTSW	19	46450947	missense	possibly damaging	0.47
R2061:Sufu	UTSW	19	46397212	missense	probably damaging	1.00
R4082:Sufu	UTSW	19	46425102	missense	probably damaging	0.99
R4151:Sufu	UTSW	19	46449972	critical splice donor site	probably null
R4744:Sufu	UTSW	19	46483630	missense	possibly damaging	0.78
R4751:Sufu	UTSW	19	46483649	missense	probably benign	0.01
R4959:Sufu	UTSW	19	46475552	missense	possibly damaging	0.58
R4973:Sufu	UTSW	19	46475552	missense	possibly damaging	0.58
R5221:Sufu	UTSW	19	46450965	critical splice donor site	probably null
R5890:Sufu	UTSW	19	46454733	critical splice acceptor site	probably null
R6030:Sufu	UTSW	19	46475539	missense	probably damaging	0.99
R6030:Sufu	UTSW	19	46475539	missense	probably damaging	0.99
R6226:Sufu	UTSW	19	46473654	missense	probably damaging	1.00
R6233:Sufu	UTSW	19	46475632	missense	probably damaging	1.00
R6811:Sufu	UTSW	19	46449878	missense	probably damaging	1.00
R6923:Sufu	UTSW	19	46450966	splice site	probably null
R7095:Sufu	UTSW	19	46475588	missense	probably damaging	1.00
R7223:Sufu	UTSW	19	46453277	missense	possibly damaging	0.82
R7390:Sufu	UTSW	19	46450669	splice site	probably null
R8190:Sufu	UTSW	19	46401197	nonsense	probably null
R9424:Sufu	UTSW	19	46485881	nonsense	probably null
R9433:Sufu	UTSW	19	46397093	start gained	probably benign
R9550:Sufu	UTSW	19	46397236	missense	probably damaging	1.00
R9594:Sufu	UTSW	19	46397235	missense	probably damaging	1.00

Posted On

2013-12-09