Mutagenetix > Incidental Mutations

Incidental Mutation 'R1295:Sufu'

158101

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

039361-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 #

R1295 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

46396896-46488804 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 46454720 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039922] [ENSMUST00000111867] [ENSMUST00000118440] [ENSMUST00000120778]

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123252

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,908,717	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,550,039	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,248,624	T102M	probably damaging	Het
Akap6	A	C	12: 52,887,029	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,546,950		probably null	Het
Amfr	T	C	8: 93,974,804	R507G	probably benign	Het
Ap1m1	T	A	8: 72,251,875		probably null	Het
Arhgap29	A	G	3: 121,992,395	H275R	probably benign	Het
Arhgef17	C	A	7: 100,881,269	E428*	probably null	Het
Atm	A	T	9: 53,456,530	V2431E	probably damaging	Het
Atn1	G	T	6: 124,747,787	P161Q	unknown	Het
Atp13a2	T	C	4: 140,993,802	S99P	probably damaging	Het
Ccar1	C	A	10: 62,783,882		probably null	Het
Cdk18	T	C	1: 132,119,960		probably benign	Het
Cep85	A	G	4: 134,167,400	W32R	probably damaging	Het
Col5a3	A	G	9: 20,808,418	F215S	unknown	Het
Decr1	T	C	4: 15,919,207	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,007,399	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752		probably benign	Het
Ehd3	C	A	17: 73,828,186	D352E	probably damaging	Het
Enpp6	T	G	8: 47,065,500	I221S	probably benign	Het
Fam186a	T	C	15: 99,939,789		probably benign	Het
Gm5435	G	T	12: 82,495,784		noncoding transcript	Het
Gm6990	T	A	19: 56,755,334		noncoding transcript	Het
Gpr22	A	C	12: 31,709,514	I203S	probably benign	Het
Gpr61	A	G	3: 108,150,481	V288A	possibly damaging	Het
Grik3	G	A	4: 125,704,564		probably benign	Het
Gstcd	T	C	3: 133,005,628	N431D	probably damaging	Het
Haao	T	A	17: 83,838,838	Q69L	probably benign	Het
Hist1h1b	T	C	13: 21,779,999	S186G	probably benign	Het
Ift140	G	T	17: 25,088,933		probably null	Het
Ikbke	A	G	1: 131,270,226	V381A	probably benign	Het
Ing1	A	C	8: 11,561,501	I38L	probably benign	Het
Ing1	T	A	8: 11,561,502	I38N	probably damaging	Het
Itga4	A	G	2: 79,322,689	M907V	possibly damaging	Het
Kcnk12	C	T	17: 87,746,373	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,502,404	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,910,359	Y122C	probably damaging	Het
Mslnl	T	C	17: 25,743,240	L204P	probably damaging	Het
Muc6	T	C	7: 141,651,879	E112G	probably benign	Het
Nav3	T	A	10: 109,692,102	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,566,693	T9A	probably damaging	Het
Numb	C	A	12: 83,796,161		probably benign	Het
Prodh2	T	C	7: 30,494,089	V79A	probably damaging	Het
Psmb2	A	G	4: 126,687,032	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,398,455	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,101	Y604*	probably null	Het
Ros1	T	A	10: 52,087,932	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 119,036,927	F219L	probably benign	Het
Sall2	T	C	14: 52,313,725	N671S	probably damaging	Het
Sele	T	A	1: 164,050,810	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,130,879	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,794,636	S594T	probably benign	Het
Tbx2	A	G	11: 85,834,766	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,055,888	V50A	probably damaging	Het
Tmem56	A	G	3: 121,207,291	V231A	probably benign	Het
Ttn	C	A	2: 76,743,245	R17441L	probably damaging	Het
Usp34	A	G	11: 23,384,477	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,071,537	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,538,273	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,389,139	A501T	probably benign	Het
Wapl	C	T	14: 34,724,769	P605S	probably damaging	Het
Zfp598	A	G	17: 24,679,649	N474S	probably benign	Het
Zfyve26	A	G	12: 79,274,920	L975P	probably damaging	Het
Zp3r	C	T	1: 130,591,444	G255D	probably damaging	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
R0280:Sufu	UTSW	19	46450673	splice site	probably benign
R1175:Sufu	UTSW	19	46401264	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- AAAGTTGCTGGTCGTGCCTTCTCC -3'
(R):5'- AAAACACCGTCCTTTTGTCCTAGCC -3'

Sequencing Primer
(F):5'- CCTTTATTGTGTGTAGCCCAC -3'
(R):5'- TTTGTCCTAGCCCCAGAACAC -3'

Posted On

2014-02-18