Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Ift56'

363637

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 #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

38358404-38404582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38402097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 530 (S530R)

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: S530R

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124369
Gene: ENSMUSG00000056832
AA Change: S530R

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 85,974,087 (GRCm39)	V135F	possibly damaging	Het
Aatk	T	C	11: 119,902,603 (GRCm39)	T541A	probably benign	Het
Abcc1	T	C	16: 14,240,991 (GRCm39)	L516P	probably damaging	Het
Actl6a	T	A	3: 32,776,791 (GRCm39)	V350E	possibly damaging	Het
Afm	A	G	5: 90,674,222 (GRCm39)	K245E	possibly damaging	Het
Agr3	T	C	12: 35,996,915 (GRCm39)	V63A	probably damaging	Het
Arhgef28	A	T	13: 98,083,383 (GRCm39)	M1162K	probably damaging	Het
Casq2	T	A	3: 101,994,113 (GRCm39)	C53*	probably null	Het
Ccdc181	T	C	1: 164,107,470 (GRCm39)	V51A	probably benign	Het
Cd101	A	G	3: 100,926,310 (GRCm39)		probably benign	Het
Csdc2	T	C	15: 81,832,801 (GRCm39)	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Dnph1	A	G	17: 46,809,427 (GRCm39)		probably benign	Het
Egf	T	C	3: 129,474,796 (GRCm39)	T1124A	probably benign	Het
Gpr45	A	G	1: 43,072,371 (GRCm39)	E338G	possibly damaging	Het
Grb14	A	C	2: 64,768,762 (GRCm39)	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,026,224 (GRCm39)	S77G	possibly damaging	Het
Helb	A	G	10: 119,925,390 (GRCm39)	S996P	probably benign	Het
Huwe1	A	G	X: 150,669,762 (GRCm39)	E1405G	probably damaging	Het
Ifi47	T	C	11: 48,986,617 (GRCm39)	I128T	probably benign	Het
Ift140	T	A	17: 25,309,736 (GRCm39)	Y1089N	probably damaging	Het
Il1r1	A	T	1: 40,341,569 (GRCm39)	H324L	probably benign	Het
Irx1	C	T	13: 72,107,974 (GRCm39)	R236H	probably benign	Het
Itpr3	T	C	17: 27,323,530 (GRCm39)	V1185A	probably benign	Het
Kif19a	T	C	11: 114,676,396 (GRCm39)	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,446 (GRCm39)	Y65*	probably null	Het
Ltn1	A	T	16: 87,176,693 (GRCm39)	N1704K	possibly damaging	Het
Med1	T	C	11: 98,047,335 (GRCm39)		probably benign	Het
Meis2	T	A	2: 115,893,804 (GRCm39)	H36L	probably damaging	Het
Mier2	T	C	10: 79,385,456 (GRCm39)	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,171 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,569,212 (GRCm39)	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,119,745 (GRCm39)	V935E	probably benign	Het
Ndufa7	T	C	17: 34,048,632 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,825,405 (GRCm39)	E366G	possibly damaging	Het
Nobox	A	T	6: 43,282,617 (GRCm39)	N263K	probably benign	Het
Notch2	A	G	3: 98,018,890 (GRCm39)	D684G	probably damaging	Het
Odr4	C	A	1: 150,260,179 (GRCm39)		probably null	Het
Or2t1	A	G	14: 14,328,789 (GRCm38)	H226R	probably benign	Het
Or4c12b	T	A	2: 89,647,508 (GRCm39)	Y273*	probably null	Het
Or5p69	C	A	7: 107,967,336 (GRCm39)	T213K	probably damaging	Het
Or5w13	T	C	2: 87,523,344 (GRCm39)	N294S	probably damaging	Het
Or6aa1	T	C	7: 86,043,743 (GRCm39)		probably benign	Het
Plau	A	C	14: 20,889,965 (GRCm39)	D270A	possibly damaging	Het
Pof1b	T	C	X: 111,558,809 (GRCm39)		probably null	Het
Pramel23	A	G	4: 143,424,913 (GRCm39)	C177R	probably damaging	Het
Prtn3	A	T	10: 79,717,767 (GRCm39)		probably null	Het
Ptges3	T	A	10: 127,904,616 (GRCm39)	D26E	probably benign	Het
Pxmp2	T	C	5: 110,429,160 (GRCm39)	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,060,068 (GRCm39)	R106G	probably benign	Het
Rnf208	T	C	2: 25,133,774 (GRCm39)	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,599,292 (GRCm39)	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rsbn1	G	T	3: 103,860,972 (GRCm39)	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,042,141 (GRCm39)	C605S	probably damaging	Het
Slc2a10	G	A	2: 165,360,142 (GRCm39)	D531N	probably benign	Het
Sox13	A	G	1: 133,317,204 (GRCm39)	L143P	probably damaging	Het
Stx2	C	T	5: 129,069,285 (GRCm39)	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,623,431 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,456,355 (GRCm39)	Q316*	probably null	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unc5d	G	A	8: 29,365,634 (GRCm39)	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,314,337 (GRCm39)	I126V	probably benign	Het
Zfp410	T	A	12: 84,378,594 (GRCm39)		probably null	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
IGL03189:Ift56	APN	6	38,402,166 (GRCm39)	missense	probably benign	0.00
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

2015-12-18