Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Ift56'

78224

Institutional Source

Beutler Lab

Gene Symbol

Ift56

Ensembl Gene

ENSMUSG00000056832

Gene Name

intraflagellar transport 56

Synonyms

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

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38358404-38404582 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 38402049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCAAATGCTGGGCATTCACC -3'
(R):5'- TCCAATTTGACGTGAGAGGAAGCTG -3'

Sequencing Primer
(F):5'- GGGCATTCACCAAATTCTGG -3'
(R):5'- TGAGAGGAAGCTGGTCCTG -3'

Posted On

2013-10-16