Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Sufu'

37484

Institutional Source

Beutler Lab

Gene Symbol

Sufu

Ensembl Gene

ENSMUSG00000025231

Gene Name

SUFU negative regulator of hedgehog signaling

Synonyms

b2b273Clo, Su(Fu), 2810026F04Rik

MMRRC Submission

038502-MU

Accession Numbers

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0280 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46396896-46488804 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 46450673 bp (GRCm38)

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 benign
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 benign
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 benign
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 benign
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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	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
IGL01613:Sufu	APN	19	46475620	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
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

Predicted Primers

PCR Primer
(F):5'- GGGAGCCATTACATTTTGGGGACAC -3'
(R):5'- GCCTGCATTGATCGGCAGACATAG -3'

Sequencing Primer
(F):5'- TACATTTTGGGGACACCAGCC -3'
(R):5'- ATCGGCAGACATAGCCTTTG -3'

Posted On

2013-05-23