Mutagenetix > Incidental Mutation

Incidental Mutation 'R1175:Sufu'

100015

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

039248-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46385335-46477243 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 46389703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113073 (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 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

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 88.0%

Validation Efficiency

100% (74/74)

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
2610318N02Rik	T	A	16: 16,935,446 (GRCm39)	H214L	probably benign	Het
Abca17	T	C	17: 24,508,325 (GRCm39)	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anapc1	C	A	2: 128,522,108 (GRCm39)	C150F	probably damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Arhgef18	T	A	8: 3,439,023 (GRCm39)		probably benign	Het
Borcs5	T	A	6: 134,687,096 (GRCm39)	N150K	probably damaging	Het
C9orf72	C	A	4: 35,218,630 (GRCm39)	E76D	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cntnap5c	C	A	17: 58,671,241 (GRCm39)	T1143K	possibly damaging	Het
Col7a1	A	C	9: 108,784,402 (GRCm39)	T137P	unknown	Het
Defb8	C	T	8: 19,495,910 (GRCm39)	G50E	probably damaging	Het
Dimt1	T	A	13: 107,086,193 (GRCm39)		probably benign	Het
Dnajb11	T	A	16: 22,689,423 (GRCm39)	D281E	probably damaging	Het
Eci2	G	T	13: 35,177,087 (GRCm39)	N24K	probably damaging	Het
Fbn1	A	T	2: 125,236,607 (GRCm39)	C358S	probably benign	Het
Fbxl13	A	T	5: 21,825,602 (GRCm39)		probably benign	Het
Fbxw11	T	C	11: 32,661,922 (GRCm39)	C121R	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gab1	C	A	8: 81,511,471 (GRCm39)	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,602,982 (GRCm39)		noncoding transcript	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Itpkc	T	C	7: 26,927,195 (GRCm39)	I240V	probably benign	Het
Jakmip3	A	G	7: 138,629,515 (GRCm39)	D552G	probably damaging	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,577,011 (GRCm39)	E768G	possibly damaging	Het
Klf6	A	G	13: 5,911,711 (GRCm39)	D25G	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Mast1	T	C	8: 85,651,956 (GRCm39)	E342G	probably benign	Het
Mgat5b	T	C	11: 116,868,622 (GRCm39)	L515P	probably damaging	Het
Mink1	A	G	11: 70,502,166 (GRCm39)	D985G	probably benign	Het
Mphosph9	A	G	5: 124,453,739 (GRCm39)	V191A	possibly damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Psmd8	A	T	7: 28,875,598 (GRCm39)	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,918,292 (GRCm39)	R270S	possibly damaging	Het
Rasal2	A	G	1: 156,975,218 (GRCm39)	M1172T	probably damaging	Het
Rif1	A	G	2: 51,997,640 (GRCm39)		probably benign	Het
Rnf123	C	T	9: 107,954,572 (GRCm39)	R48H	probably benign	Het
Rsrc1	T	C	3: 67,263,551 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,384,608 (GRCm39)	P195L	probably benign	Het
Sis	A	G	3: 72,865,437 (GRCm39)		probably benign	Het
Skint4	T	C	4: 111,981,793 (GRCm39)	M246T	probably benign	Het
Snrnp200	C	A	2: 127,070,997 (GRCm39)	R1093S	probably damaging	Het
Sp100	A	G	1: 85,629,141 (GRCm39)	N471D	possibly damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Ssxb8	T	G	X: 8,556,062 (GRCm39)	H88P	probably damaging	Het
Synpo2l	G	A	14: 20,718,235 (GRCm39)	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,881,683 (GRCm39)	S40R	probably damaging	Het
Tent4b	T	A	8: 88,978,635 (GRCm39)	F445L	probably damaging	Het
Terb1	G	A	8: 105,210,938 (GRCm39)	T363I	probably benign	Het
Timd4	C	T	11: 46,708,498 (GRCm39)	P175S	probably damaging	Het
Tlr3	C	A	8: 45,850,171 (GRCm39)	V833L	probably damaging	Het
Tpst2	T	A	5: 112,455,911 (GRCm39)	M150K	probably damaging	Het
Trim67	T	A	8: 125,543,774 (GRCm39)	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Uimc1	G	A	13: 55,176,415 (GRCm39)	T701I	possibly damaging	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,547,621 (GRCm39)	S160P	probably benign	Het
Vmn2r66	G	T	7: 84,654,799 (GRCm39)	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Zfp457	G	A	13: 67,441,748 (GRCm39)	P180S	probably 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
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
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

Posted On

2014-01-15