Mutagenetix > Incidental Mutation

Incidental Mutation 'R6226:Sufu'

504376

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

044397-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46385335-46477243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46462093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 369 (V369M)

Ref Sequence

ENSEMBL: ENSMUSP00000049109 (fasta)

Gene Model

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

AlphaFold

Q9Z0P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039922
AA Change: V369M

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

SMART Domains

Protein: ENSMUSP00000049109
Gene: ENSMUSG00000025231
AA Change: V369M

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: V370M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107498
Gene: ENSMUSG00000025231
AA Change: V370M

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: V369M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113073
Gene: ENSMUSG00000025231
AA Change: V369M

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: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,293,853 (GRCm39)	T62A	probably benign	Het
Adam33	G	A	2: 130,897,530 (GRCm39)	T265I	probably damaging	Het
Afap1l2	T	C	19: 56,904,560 (GRCm39)	T654A	probably benign	Het
Agrn	A	G	4: 156,258,066 (GRCm39)	S992P	probably damaging	Het
Anapc1	A	G	2: 128,492,292 (GRCm39)	F939L	probably damaging	Het
Anks1	G	A	17: 28,276,304 (GRCm39)	V1016I	probably benign	Het
Ankzf1	A	G	1: 75,173,238 (GRCm39)	T401A	probably benign	Het
Atad1	G	T	19: 32,678,987 (GRCm39)	D105E	probably benign	Het
Carmil2	A	G	8: 106,415,664 (GRCm39)	T313A	possibly damaging	Het
Cdk15	T	C	1: 59,304,792 (GRCm39)	V131A	probably damaging	Het
Cldnd1	A	T	16: 58,551,663 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,948,882 (GRCm39)		probably benign	Het
Cts3	T	A	13: 61,716,535 (GRCm39)	I34L	probably benign	Het
Dnah7b	A	C	1: 46,165,828 (GRCm39)	K498Q	probably benign	Het
Dnase2b	A	G	3: 146,290,318 (GRCm39)	Y218H	probably benign	Het
Dsg2	T	A	18: 20,712,506 (GRCm39)	V170D	probably damaging	Het
Dst	T	C	1: 34,309,955 (GRCm39)	V1543A	probably damaging	Het
Ell3	A	T	2: 121,272,258 (GRCm39)	I72K	probably damaging	Het
Fank1	A	G	7: 133,463,927 (GRCm39)	Y41C	probably benign	Het
Foxd3	T	C	4: 99,545,261 (GRCm39)	Y134H	probably damaging	Het
Frmd6	A	G	12: 70,910,685 (GRCm39)		probably benign	Het
Gale	A	G	4: 135,692,916 (GRCm39)	E53G	possibly damaging	Het
Glis3	A	G	19: 28,294,702 (GRCm39)	S699P	probably damaging	Het
Gm12830	T	A	4: 114,702,246 (GRCm39)	M136K	unknown	Het
Grik3	T	C	4: 125,553,582 (GRCm39)	V438A	probably benign	Het
Gsap	A	G	5: 21,422,429 (GRCm39)	N133D	probably damaging	Het
Gsg1	T	A	6: 135,217,110 (GRCm39)	D239V	probably damaging	Het
H2-T10	A	T	17: 36,431,975 (GRCm39)	W23R	probably damaging	Het
Itgae	A	G	11: 73,031,583 (GRCm39)	T1100A	probably benign	Het
Kcnh7	A	T	2: 62,607,903 (GRCm39)	F559L	probably damaging	Het
Kdm5b	G	T	1: 134,536,616 (GRCm39)	R612L	probably damaging	Het
Lrrc74a	T	A	12: 86,795,231 (GRCm39)	N253K	possibly damaging	Het
Mcm3ap	A	G	10: 76,351,540 (GRCm39)	H1961R	possibly damaging	Het
Ncam1	C	T	9: 49,476,304 (GRCm39)	E262K	probably benign	Het
Nckap1	A	G	2: 80,339,125 (GRCm39)	S968P	possibly damaging	Het
Nkapd1	T	C	9: 50,519,070 (GRCm39)	T181A	possibly damaging	Het
Nr2f2	T	G	7: 70,009,744 (GRCm39)	S112R	probably benign	Het
Nup93	T	C	8: 95,013,165 (GRCm39)	W137R	probably damaging	Het
Or10ag53	A	G	2: 87,082,736 (GRCm39)	S152G	probably benign	Het
Or2t26	A	G	11: 49,039,660 (GRCm39)	D192G	possibly damaging	Het
Or4a78	A	T	2: 89,497,333 (GRCm39)	L299H	probably damaging	Het
Or52n1	A	T	7: 104,383,243 (GRCm39)	F109L	probably damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Or8b55	T	C	9: 38,727,666 (GRCm39)	I289T	probably damaging	Het
Otogl	A	T	10: 107,607,067 (GRCm39)	Y2105*	probably null	Het
Pibf1	A	G	14: 99,338,555 (GRCm39)	S24G	probably damaging	Het
Pitx2	C	T	3: 129,009,491 (GRCm39)	R130W	probably damaging	Het
Pkd1l1	T	C	11: 8,851,287 (GRCm39)	N715S	probably benign	Het
Pou6f2	A	T	13: 18,303,739 (GRCm39)	I123N	possibly damaging	Het
Prss29	T	A	17: 25,539,513 (GRCm39)	H35Q	possibly damaging	Het
Ptpn21	A	G	12: 98,646,375 (GRCm39)	F1028L	probably benign	Het
Ptpn21	A	T	12: 98,681,431 (GRCm39)	Y68N	probably damaging	Het
Ptprk	A	G	10: 28,440,099 (GRCm39)	T856A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl22l1	A	G	3: 28,860,676 (GRCm39)	T13A	possibly damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sec14l5	G	A	16: 4,994,429 (GRCm39)	V408I	probably damaging	Het
Serpina5	T	C	12: 104,068,037 (GRCm39)	S33P	possibly damaging	Het
Sgip1	A	G	4: 102,823,392 (GRCm39)	N524S	probably damaging	Het
Shkbp1	C	A	7: 27,051,405 (GRCm39)	R218M	probably null	Het
Sorcs1	T	A	19: 50,169,852 (GRCm39)	I970F	probably damaging	Het
Spg11	A	G	2: 121,918,743 (GRCm39)	V962A	possibly damaging	Het
Sptbn1	A	G	11: 30,086,054 (GRCm39)	M1205T	probably damaging	Het
Tmem98	T	C	11: 80,712,220 (GRCm39)	F219S	probably benign	Het
Trim27	T	C	13: 21,365,086 (GRCm39)		probably benign	Het
Trim43b	T	C	9: 88,973,328 (GRCm39)	E135G	possibly damaging	Het
Ube2m	A	G	7: 12,769,815 (GRCm39)	V110A	probably damaging	Het
Ugt2b36	A	G	5: 87,239,989 (GRCm39)	V132A	probably damaging	Het
Usp36	A	T	11: 118,168,100 (GRCm39)	S86T	probably damaging	Het
Zfp941	A	T	7: 140,392,398 (GRCm39)	D320E	probably benign	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
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

PCR Primer
(F):5'- ATTGAGAAGTGCTTGGCGC -3'
(R):5'- TGAATGGCTGCCTTCCATC -3'

Sequencing Primer
(F):5'- AGGTGAGCTAGCTACTGTAGTTAAC -3'
(R):5'- GGCTGCCTTCCATCCCCAG -3'

Posted On

2018-02-28