Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Ift56'

412576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift56

Ensembl Gene

ENSMUSG00000056832

Gene Name

intraflagellar transport 56

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

38358404-38404582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38402166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 553 (P553S)

Ref Sequence

ENSEMBL: ENSMUSP00000124369 (fasta)

Gene Model

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

AlphaFold

Q8BS45

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: ENSMUST00000162554
AA Change: P553S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124369
Gene: ENSMUSG00000056832
AA Change: P553S

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

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,895,814 (GRCm39)	T916A	probably benign	Het
Adam22	A	T	5: 8,161,897 (GRCm39)	Y50*	probably null	Het
Adprs	T	C	4: 126,211,087 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,988,603 (GRCm39)	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,505,365 (GRCm39)	D125G	possibly damaging	Het
Bmp3	A	T	5: 99,020,579 (GRCm39)	Q334L	probably benign	Het
Camsap2	A	T	1: 136,209,400 (GRCm39)	D697E	probably damaging	Het
Car11	A	G	7: 45,351,879 (GRCm39)	T103A	probably damaging	Het
Cecr2	T	A	6: 120,739,391 (GRCm39)	S1373T	probably benign	Het
Cenpm	A	G	15: 82,118,634 (GRCm39)	V160A	possibly damaging	Het
Chl1	A	T	6: 103,660,168 (GRCm39)	I365F	possibly damaging	Het
Col20a1	C	T	2: 180,651,200 (GRCm39)	Q1089*	probably null	Het
Csf1r	A	T	18: 61,239,058 (GRCm39)	T13S	probably benign	Het
Fam13a	T	C	6: 58,933,843 (GRCm39)	E249G	probably damaging	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Fhdc1	G	A	3: 84,362,368 (GRCm39)		probably benign	Het
Fn3krp	T	C	11: 121,320,456 (GRCm39)	I267T	probably damaging	Het
Fras1	A	T	5: 96,890,930 (GRCm39)	I2820F	probably benign	Het
Fyb2	A	G	4: 104,872,939 (GRCm39)	I771V	probably damaging	Het
Gata3os	A	G	2: 9,888,634 (GRCm39)		probably benign	Het
Glis1	A	G	4: 107,472,248 (GRCm39)	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,820,735 (GRCm39)	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,210,901 (GRCm39)		probably null	Het
Iqgap1	T	A	7: 80,363,590 (GRCm39)	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,274,588 (GRCm39)	D181G	probably damaging	Het
Lrp2	T	C	2: 69,268,822 (GRCm39)		probably benign	Het
Mark1	T	C	1: 184,651,890 (GRCm39)	N95S	probably damaging	Het
Mbd5	A	G	2: 49,147,763 (GRCm39)	K658E	probably damaging	Het
Mcm6	C	T	1: 128,272,039 (GRCm39)	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,435,504 (GRCm39)	D187G	probably benign	Het
Mrpl19	G	T	6: 81,938,974 (GRCm39)	S276*	probably null	Het
Ncoa2	G	A	1: 13,260,360 (GRCm39)	T105M	probably damaging	Het
Nop14	A	G	5: 34,807,972 (GRCm39)		probably benign	Het
Or2ah1	A	G	2: 85,653,902 (GRCm39)	T196A	probably benign	Het
Or2aj5	T	C	16: 19,425,341 (GRCm39)	T26A	probably benign	Het
Or5w19	G	A	2: 87,698,559 (GRCm39)	A75T	possibly damaging	Het
Otud7b	G	A	3: 96,062,795 (GRCm39)	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,469,205 (GRCm39)	V25M	probably damaging	Het
Prpf39	G	T	12: 65,090,076 (GRCm39)	G5*	probably null	Het
Serpinb9d	T	C	13: 33,386,895 (GRCm39)	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,067,702 (GRCm39)	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452 (GRCm39)	I55T	probably benign	Het
Spata13	T	C	14: 60,929,063 (GRCm39)	I207T	possibly damaging	Het
Suco	T	C	1: 161,684,906 (GRCm39)		probably benign	Het
Svs5	A	G	2: 164,079,032 (GRCm39)	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Tmem45a	A	T	16: 56,631,936 (GRCm39)	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,648,289 (GRCm39)		probably benign	Het
Vmn2r4	C	A	3: 64,296,589 (GRCm39)	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,893,672 (GRCm39)	T602I	probably benign	Het

Other mutations in Ift56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Ift56	APN	6	38,359,155 (GRCm39)	splice site	probably benign
IGL02049:Ift56	APN	6	38,402,067 (GRCm39)	missense	probably benign	0.16
IGL02403:Ift56	APN	6	38,386,373 (GRCm39)	missense	possibly damaging	0.95
IGL02902:Ift56	APN	6	38,402,097 (GRCm39)	missense	probably benign	0.21
IGL03410:Ift56	APN	6	38,362,435 (GRCm39)	missense	probably damaging	1.00
R0346:Ift56	UTSW	6	38,386,370 (GRCm39)	missense	probably damaging	1.00
R0562:Ift56	UTSW	6	38,378,064 (GRCm39)	missense	probably damaging	1.00
R0826:Ift56	UTSW	6	38,402,049 (GRCm39)	splice site	probably null
R1212:Ift56	UTSW	6	38,387,728 (GRCm39)	missense	probably damaging	1.00
R1778:Ift56	UTSW	6	38,386,411 (GRCm39)	missense	possibly damaging	0.93
R1972:Ift56	UTSW	6	38,387,738 (GRCm39)	missense	probably benign	0.20
R2903:Ift56	UTSW	6	38,378,037 (GRCm39)	missense	possibly damaging	0.61
R2904:Ift56	UTSW	6	38,378,037 (GRCm39)	missense	possibly damaging	0.61
R2905:Ift56	UTSW	6	38,378,037 (GRCm39)	missense	possibly damaging	0.61
R3788:Ift56	UTSW	6	38,380,459 (GRCm39)	critical splice donor site	probably null
R4222:Ift56	UTSW	6	38,372,010 (GRCm39)	missense	probably damaging	1.00
R4392:Ift56	UTSW	6	38,358,492 (GRCm39)	start gained	probably benign
R4930:Ift56	UTSW	6	38,368,475 (GRCm39)	missense	probably damaging	1.00
R5484:Ift56	UTSW	6	38,366,057 (GRCm39)	missense	probably benign	0.10
R5920:Ift56	UTSW	6	38,389,005 (GRCm39)	missense	probably damaging	1.00
R6229:Ift56	UTSW	6	38,371,975 (GRCm39)	missense	probably benign	0.22
R6429:Ift56	UTSW	6	38,375,248 (GRCm39)	missense	possibly damaging	0.69
R6901:Ift56	UTSW	6	38,378,079 (GRCm39)	missense	possibly damaging	0.80
R7448:Ift56	UTSW	6	38,381,422 (GRCm39)	nonsense	probably null
R7554:Ift56	UTSW	6	38,362,435 (GRCm39)	missense	probably null	1.00
R7650:Ift56	UTSW	6	38,371,975 (GRCm39)	missense	probably benign	0.22
R8319:Ift56	UTSW	6	38,382,880 (GRCm39)	missense	probably damaging	0.98
R9270:Ift56	UTSW	6	38,366,109 (GRCm39)	intron	probably benign
R9417:Ift56	UTSW	6	38,386,386 (GRCm39)	missense	probably damaging	1.00
X0066:Ift56	UTSW	6	38,382,877 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02