Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Ift56'

326402

Institutional Source

Beutler Lab

Gene Symbol

Ift56

Ensembl Gene

ENSMUSG00000056832

Gene Name

intraflagellar transport 56

Synonyms

hpy, hydrocephalic-polydactyl, 9430097H08Rik, hop, Ttc26

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R4392 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

38381469-38427647 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 38381557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159145] [ENSMUST00000160215] [ENSMUST00000161751] [ENSMUST00000162554]

AlphaFold

Q8BS45

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119767

Predicted Effect

probably benign
Transcript: ENSMUST00000159145

SMART Domains

Protein: ENSMUSP00000124873
Gene: ENSMUSG00000056832

Domain	Start	End	E-Value	Type
low complexity region	19	29	N/A	INTRINSIC
Pfam:TPR_2	58	88	1.2e-5	PFAM
Pfam:TPR_8	58	91	1.7e-3	PFAM
Pfam:TPR_1	61	87	4.6e-4	PFAM
Pfam:TPR_11	63	113	4.9e-11	PFAM
Pfam:TPR_19	67	113	3.1e-7	PFAM
Pfam:TPR_8	89	113	2e-3	PFAM
Pfam:TPR_1	91	113	1.7e-4	PFAM
Pfam:TPR_2	91	113	2.4e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160215

SMART Domains

Protein: ENSMUSP00000125097
Gene: ENSMUSG00000056832

Domain	Start	End	E-Value	Type
low complexity region	19	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161751

SMART Domains

Protein: ENSMUSP00000124271
Gene: ENSMUSG00000056832

Domain	Start	End	E-Value	Type
low complexity region	19	29	N/A	INTRINSIC
Pfam:TPR_2	58	88	1.3e-5	PFAM
Pfam:TPR_8	58	91	1.8e-3	PFAM
Pfam:TPR_6	59	87	2.6e-3	PFAM
Pfam:TPR_1	61	87	4.8e-4	PFAM
Pfam:TPR_11	63	115	4.1e-11	PFAM
Pfam:TPR_19	67	130	1.7e-7	PFAM
Pfam:TPR_8	89	113	2.1e-3	PFAM
Pfam:TPR_1	91	113	1.8e-4	PFAM
Pfam:TPR_2	91	113	2.5e-3	PFAM
Pfam:TPR_9	145	210	9.4e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162554

SMART Domains

Protein: ENSMUSP00000124369
Gene: ENSMUSG00000056832

Domain	Start	End	E-Value	Type
low complexity region	19	29	N/A	INTRINSIC
Pfam:TPR_2	58	88	2.7e-5	PFAM
Pfam:TPR_11	63	117	9e-9	PFAM
Pfam:TPR_9	157	227	9.2e-4	PFAM
Blast:TPR	359	392	9e-10	BLAST
Blast:TPR	461	494	8e-15	BLAST

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous nonsense mutation exhibit partial prenatal lethality, a hopping gait, preaxial polydactyly, male sterility due to lack of sperm flagella, impaired hearing, and patterning defects that are typical of impaired Hedgehog signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978 (GRCm38)		probably null	Het
Abca13	A	C	11: 9,309,034 (GRCm38)	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408 (GRCm38)		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249 (GRCm38)		probably null	Het
Bmp7	T	G	2: 172,916,542 (GRCm38)	D178A	probably benign	Het
Brsk1	T	A	7: 4,698,750 (GRCm38)	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335 (GRCm38)	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280 (GRCm38)	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353 (GRCm38)	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464 (GRCm38)		probably benign	Het
Col12a1	T	A	9: 79,662,488 (GRCm38)	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275 (GRCm38)	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036 (GRCm38)	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229 (GRCm38)	R1188H	probably benign	Het
Dop1a	T	C	9: 86,503,143 (GRCm38)		probably benign	Het
Efcab5	T	A	11: 77,090,458 (GRCm38)	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641 (GRCm38)		probably null	Het
Erlec1	A	G	11: 30,943,697 (GRCm38)		probably null	Het
Esp24	T	C	17: 39,040,077 (GRCm38)		probably benign	Het
Esp34	T	C	17: 38,559,491 (GRCm38)	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,568,232 (GRCm38)		probably benign	Het
Foxc2	T	C	8: 121,117,452 (GRCm38)	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136 (GRCm38)	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780 (GRCm38)	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,260,629 (GRCm38)	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Homer3	G	A	8: 70,290,143 (GRCm38)		probably null	Het
Lhx4	A	G	1: 155,710,134 (GRCm38)	Y83H	probably damaging	Het
Mdga1	T	C	17: 29,850,656 (GRCm38)	T413A	probably damaging	Het
Mideas	A	T	12: 84,173,111 (GRCm38)	D356E	probably benign	Het
Mmrn2	T	A	14: 34,397,616 (GRCm38)	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,259,589 (GRCm38)	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881 (GRCm38)		probably null	Het
Nkain3	C	A	4: 20,282,985 (GRCm38)	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272 (GRCm38)	Q212P	probably damaging	Het
Or4f7d-ps1	T	C	2: 111,844,345 (GRCm38)		noncoding transcript	Het
Or4k15c	A	G	14: 50,084,603 (GRCm38)	F26S	probably benign	Het
Otog	T	C	7: 46,285,124 (GRCm38)	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351 (GRCm38)	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467 (GRCm38)	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529 (GRCm38)	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311 (GRCm38)	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115 (GRCm38)	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788 (GRCm38)	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452 (GRCm38)		probably benign	Het
Slc10a1	C	A	12: 80,967,804 (GRCm38)	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471 (GRCm38)	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224 (GRCm38)	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752 (GRCm38)	T631I	probably benign	Het
Tmprss15	A	G	16: 79,024,438 (GRCm38)	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,848,538 (GRCm38)	W207R	probably damaging	Het
Trpm7	A	T	2: 126,795,509 (GRCm38)		probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984 (GRCm38)		probably benign	Het
Ugt1a10	C	T	1: 88,215,123 (GRCm38)	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259 (GRCm38)	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176 (GRCm38)	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476 (GRCm38)	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832 (GRCm38)	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643 (GRCm38)	C419*	probably null	Het

Other mutations in Ift56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Ift56	APN	6	38,382,220 (GRCm38)	splice site	probably benign
IGL02049:Ift56	APN	6	38,425,132 (GRCm38)	missense	probably benign	0.16
IGL02403:Ift56	APN	6	38,409,438 (GRCm38)	missense	possibly damaging	0.95
IGL02902:Ift56	APN	6	38,425,162 (GRCm38)	missense	probably benign	0.21
IGL03189:Ift56	APN	6	38,425,231 (GRCm38)	missense	probably benign	0.00
IGL03410:Ift56	APN	6	38,385,500 (GRCm38)	missense	probably damaging	1.00
R0346:Ift56	UTSW	6	38,409,435 (GRCm38)	missense	probably damaging	1.00
R0562:Ift56	UTSW	6	38,401,129 (GRCm38)	missense	probably damaging	1.00
R0826:Ift56	UTSW	6	38,425,114 (GRCm38)	splice site	probably null
R1212:Ift56	UTSW	6	38,410,793 (GRCm38)	missense	probably damaging	1.00
R1778:Ift56	UTSW	6	38,409,476 (GRCm38)	missense	possibly damaging	0.93
R1972:Ift56	UTSW	6	38,410,803 (GRCm38)	missense	probably benign	0.20
R2903:Ift56	UTSW	6	38,401,102 (GRCm38)	missense	possibly damaging	0.61
R2904:Ift56	UTSW	6	38,401,102 (GRCm38)	missense	possibly damaging	0.61
R2905:Ift56	UTSW	6	38,401,102 (GRCm38)	missense	possibly damaging	0.61
R3788:Ift56	UTSW	6	38,403,524 (GRCm38)	critical splice donor site	probably null
R4222:Ift56	UTSW	6	38,395,075 (GRCm38)	missense	probably damaging	1.00
R4930:Ift56	UTSW	6	38,391,540 (GRCm38)	missense	probably damaging	1.00
R5484:Ift56	UTSW	6	38,389,122 (GRCm38)	missense	probably benign	0.10
R5920:Ift56	UTSW	6	38,412,070 (GRCm38)	missense	probably damaging	1.00
R6229:Ift56	UTSW	6	38,395,040 (GRCm38)	missense	probably benign	0.22
R6429:Ift56	UTSW	6	38,398,313 (GRCm38)	missense	possibly damaging	0.69
R6901:Ift56	UTSW	6	38,401,144 (GRCm38)	missense	possibly damaging	0.80
R7448:Ift56	UTSW	6	38,404,487 (GRCm38)	nonsense	probably null
R7554:Ift56	UTSW	6	38,385,500 (GRCm38)	missense	probably null	1.00
R7650:Ift56	UTSW	6	38,395,040 (GRCm38)	missense	probably benign	0.22
R8319:Ift56	UTSW	6	38,405,945 (GRCm38)	missense	probably damaging	0.98
R9270:Ift56	UTSW	6	38,389,174 (GRCm38)	intron	probably benign
R9417:Ift56	UTSW	6	38,409,451 (GRCm38)	missense	probably damaging	1.00
X0066:Ift56	UTSW	6	38,405,942 (GRCm38)	missense	probably benign	0.00

Predicted Primers

Posted On

2015-07-06