Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:Sufu'

504796

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

044361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46385335-46477243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46464071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 428 (G428R)

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: G428R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: G428R

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: G429R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: G429R

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: G428R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
AA Change: G428R

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

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,338,411 (GRCm39)	N437I	probably benign	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgrg7	T	A	16: 56,599,005 (GRCm39)	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Ankrd9	A	T	12: 110,943,554 (GRCm39)	I160N	probably damaging	Het
Aoc1l2	A	G	6: 48,907,899 (GRCm39)	T300A	probably benign	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,751,714 (GRCm39)	L247R	probably damaging	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhrs7l	T	C	12: 72,666,341 (GRCm39)	Y110C	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dmkn	C	A	7: 30,479,104 (GRCm39)	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsc3	C	T	18: 20,098,852 (GRCm39)	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,335,526 (GRCm39)		probably null	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eny2	A	G	15: 44,297,056 (GRCm39)		probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,169,073 (GRCm39)	S22P	unknown	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Fcrlb	A	G	1: 170,736,458 (GRCm39)	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Gna12	A	G	5: 140,746,447 (GRCm39)	F333L	possibly damaging	Het
Gria2	A	G	3: 80,614,510 (GRCm39)	I510T	probably damaging	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,529,256 (GRCm39)	T310A	probably benign	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,905,697 (GRCm39)	N90S	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,099,412 (GRCm39)	D1520E	probably benign	Het
Lrrc37	A	T	11: 103,504,214 (GRCm39)	L2585I	probably damaging	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myh7b	C	T	2: 155,473,719 (GRCm39)	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5b118	T	C	19: 13,449,104 (GRCm39)	Y257H	probably damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or6c209	T	C	10: 129,483,165 (GRCm39)	M56T	probably benign	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pilra	T	C	5: 137,821,763 (GRCm39)	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610 (GRCm39)	D630Y	probably damaging	Het
Pros1	A	C	16: 62,719,284 (GRCm39)	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,495,462 (GRCm39)	D407G	probably benign	Het
Rapgef5	G	A	12: 117,703,453 (GRCm39)		probably null	Het
Rbm25	G	A	12: 83,706,200 (GRCm39)	A182T	probably benign	Het
Rnf13	A	G	3: 57,740,391 (GRCm39)	E236G	possibly damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984 (GRCm39)	I119F	probably damaging	Het
Shoc1	T	A	4: 59,076,245 (GRCm39)	D566V	possibly damaging	Het
Slc12a7	T	C	13: 73,953,590 (GRCm39)	S767P	possibly damaging	Het
Slc23a1	A	G	18: 35,757,497 (GRCm39)	I258T	probably damaging	Het
Spata13	G	A	14: 60,929,456 (GRCm39)	R338H	probably benign	Het
Sult2a1	T	C	7: 13,566,600 (GRCm39)	D125G	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tenm3	A	C	8: 48,870,094 (GRCm39)	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tspan11	T	C	6: 127,915,227 (GRCm39)	Y114H	probably damaging	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Usp44	G	A	10: 93,686,202 (GRCm39)	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,519,099 (GRCm39)	P508S	probably benign	Het
Zfp831	A	G	2: 174,488,490 (GRCm39)	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	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
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

PCR Primer
(F):5'- AGCTCCTTGGATAGGGACCATG -3'
(R):5'- ATTCCACCAATGGCCAGAAG -3'

Sequencing Primer
(F):5'- ATAGGGACCATGTTCTAGGCC -3'
(R):5'- TGGCCAGAAGTGCAGTGC -3'

Posted On

2018-02-28