Mutagenetix > Incidental Mutation

Incidental Mutation 'R4945:Ift27'

381331

Institutional Source

Beutler Lab

Gene Symbol

Ift27

Ensembl Gene

ENSMUSG00000016637

Gene Name

intraflagellar transport 27

Synonyms

Rabl4, 2600013G09Rik

MMRRC Submission

042542-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78043660-78058281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78048454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 110 (V110A)

Ref Sequence

ENSEMBL: ENSMUSP00000155127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016781] [ENSMUST00000229476] [ENSMUST00000230844]

AlphaFold

Q9D0P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000016781
AA Change: V133A

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

SMART Domains

Protein: ENSMUSP00000016781
Gene: ENSMUSG00000016637
AA Change: V133A

Domain	Start	End	E-Value	Type
Pfam:Roc	7	127	5.8e-20	PFAM
Pfam:Ras	7	173	2.2e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229417

Predicted Effect

probably benign
Transcript: ENSMUST00000229476

Predicted Effect

probably damaging
Transcript: ENSMUST00000230844
AA Change: V110A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231069

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice die shortly after birth showing multiple structural birth defects, including heart, lung, skeletal, and brain abnormalities, associated with abnormal Hedgehog signaling. Hair follicle development is severely impaired but formation of the ciliary axoneme is normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,876,622 (GRCm39)	R512H	probably damaging	Het
Adgrl2	T	A	3: 148,528,672 (GRCm39)	M1158L	probably damaging	Het
Adgrl3	C	A	5: 81,659,895 (GRCm39)	H153Q	probably damaging	Het
Aldh1a2	C	A	9: 71,123,198 (GRCm39)	Q24K	probably benign	Het
Atp1b1	A	G	1: 164,265,867 (GRCm39)	V298A	probably damaging	Het
Casp8ap2	T	A	4: 32,631,163 (GRCm39)	N74K	possibly damaging	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cerk	C	G	15: 86,040,802 (GRCm39)	D186H	probably benign	Het
Cmtr2	T	C	8: 110,948,065 (GRCm39)	F125S	probably damaging	Het
Col6a1	A	G	10: 76,548,106 (GRCm39)	V650A	unknown	Het
Cuzd1	A	G	7: 130,918,350 (GRCm39)	F196L	probably damaging	Het
Esm1	T	G	13: 113,346,679 (GRCm39)		probably null	Het
Fbn2	T	A	18: 58,183,325 (GRCm39)	I1787F	possibly damaging	Het
Gm1110	T	C	9: 26,831,891 (GRCm39)	M87V	possibly damaging	Het
Gpr179	T	C	11: 97,240,544 (GRCm39)	H293R	probably damaging	Het
Grk2	A	G	19: 4,340,475 (GRCm39)	I302T	probably damaging	Het
Hoxb6	A	G	11: 96,190,085 (GRCm39)	Y28C	possibly damaging	Het
Igfbp7	T	C	5: 77,499,104 (GRCm39)	D267G	probably benign	Het
Ighv1-49	C	A	12: 115,019,028 (GRCm39)	V56L	possibly damaging	Het
Ighv8-8	C	T	12: 115,257,881 (GRCm39)	M53I	probably benign	Het
Kcnj3	T	A	2: 55,327,590 (GRCm39)	N126K	probably damaging	Het
Kif12	C	T	4: 63,086,730 (GRCm39)		probably null	Het
Lrif1	A	C	3: 106,643,069 (GRCm39)	I725L	probably damaging	Het
Lrrk2	T	C	15: 91,689,123 (GRCm39)	V2265A	probably benign	Het
Med25	T	C	7: 44,532,526 (GRCm39)	N438S	possibly damaging	Het
Mex3b	A	T	7: 82,519,382 (GRCm39)	T566S	probably benign	Het
Mkx	T	C	18: 7,000,657 (GRCm39)	N95S	possibly damaging	Het
Morc3	A	T	16: 93,668,082 (GRCm39)	D820V	probably damaging	Het
Mroh4	G	T	15: 74,483,857 (GRCm39)	N562K	probably benign	Het
Ndst3	A	T	3: 123,346,201 (GRCm39)	I276N	probably damaging	Het
Notch2	A	G	3: 98,019,037 (GRCm39)	N733S	probably benign	Het
Or10a5	A	T	7: 106,635,526 (GRCm39)	M55L	probably benign	Het
Or2l13b	C	A	16: 19,349,307 (GRCm39)	R121L	probably benign	Het
Or51k1	G	A	7: 103,661,585 (GRCm39)	T108I	possibly damaging	Het
Or5ak24	T	C	2: 85,260,895 (GRCm39)	T93A	probably benign	Het
Or5m13	T	A	2: 85,748,917 (GRCm39)	I216N	possibly damaging	Het
Or8b38	G	T	9: 37,973,068 (GRCm39)	G151C	probably damaging	Het
Or8b44	A	T	9: 38,410,585 (GRCm39)	I207F	probably damaging	Het
Or8k37	T	C	2: 86,469,833 (GRCm39)	Y73C	probably damaging	Het
Patj	A	T	4: 98,383,301 (GRCm39)	N268Y	probably damaging	Het
Pbrm1	T	A	14: 30,774,173 (GRCm39)	D446E	probably damaging	Het
Pcdhga11	A	G	18: 37,891,085 (GRCm39)	T698A	probably benign	Het
Pde6a	T	C	18: 61,367,790 (GRCm39)	V266A	probably damaging	Het
Phax	G	T	18: 56,709,063 (GRCm39)	R209L	probably damaging	Het
Pld2	T	A	11: 70,446,524 (GRCm39)	M20K	probably damaging	Het
Rabl3	T	C	16: 37,362,220 (GRCm39)	S20P	probably damaging	Het
Rad51	T	A	2: 118,957,629 (GRCm39)	V174E	probably damaging	Het
Rb1cc1	A	G	1: 6,319,851 (GRCm39)	E1090G	probably benign	Het
Rfc3	T	C	5: 151,566,450 (GRCm39)	E333G	probably damaging	Het
Rfx6	T	G	10: 51,602,947 (GRCm39)	Y821*	probably null	Het
Riok3	A	G	18: 12,261,972 (GRCm39)	D2G	probably damaging	Het
Rtn1	G	T	12: 72,264,258 (GRCm39)	A183E	probably damaging	Het
Skint8	T	C	4: 111,796,805 (GRCm39)	L303P	probably damaging	Het
Slc36a2	C	A	11: 55,065,520 (GRCm39)	V162L	probably benign	Het
Sorcs3	T	C	19: 48,752,587 (GRCm39)	V794A	possibly damaging	Het
Sspo	A	G	6: 48,444,021 (GRCm39)		probably null	Het
Tbk1	T	C	10: 121,387,174 (GRCm39)	N707S	probably damaging	Het
Tchhl1	A	T	3: 93,378,883 (GRCm39)	H529L	probably benign	Het
Tgfbr2	A	T	9: 115,960,633 (GRCm39)	H106Q	probably benign	Het
Trim8	A	G	19: 46,491,214 (GRCm39)	E111G	probably benign	Het
Tshz2	A	G	2: 169,725,794 (GRCm39)	Y130C	probably damaging	Het
Txndc15	T	A	13: 55,865,978 (GRCm39)	D147E	probably benign	Het
Vmn1r172	T	A	7: 23,359,745 (GRCm39)	L210H	possibly damaging	Het
Vmn1r55	A	G	7: 5,150,105 (GRCm39)	V106A	probably damaging	Het
Vmn2r49	T	A	7: 9,720,214 (GRCm39)	K426*	probably null	Het
Wnk2	C	T	13: 49,210,722 (GRCm39)	R206Q	probably damaging	Het
Zfp1007	A	T	5: 109,824,941 (GRCm39)	C170S	possibly damaging	Het
Zfp473	T	C	7: 44,383,988 (GRCm39)	N115S	probably benign	Het
Zfp536	G	T	7: 37,269,161 (GRCm39)	A85D	probably damaging	Het
Zfp853	C	A	5: 143,274,584 (GRCm39)	Q345H	unknown	Het

Other mutations in Ift27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03308:Ift27	APN	15	78,050,215 (GRCm39)	missense	probably damaging	1.00
R0465:Ift27	UTSW	15	78,057,958 (GRCm39)	unclassified	probably benign
R0825:Ift27	UTSW	15	78,049,336 (GRCm39)	splice site	probably benign
R1483:Ift27	UTSW	15	78,049,436 (GRCm39)	missense	possibly damaging	0.94
R1776:Ift27	UTSW	15	78,050,181 (GRCm39)	missense	probably null	0.50
R1823:Ift27	UTSW	15	78,057,978 (GRCm39)	missense	possibly damaging	0.89
R4881:Ift27	UTSW	15	78,049,448 (GRCm39)	missense	probably damaging	0.99
R5834:Ift27	UTSW	15	78,049,443 (GRCm39)	missense	probably damaging	0.96
R6046:Ift27	UTSW	15	78,057,981 (GRCm39)	missense	possibly damaging	0.55
R8420:Ift27	UTSW	15	78,048,391 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGCAGAATGTGAGCATCG -3'
(R):5'- AACCAGTCTGTCTTCTGTGG -3'

Sequencing Primer
(F):5'- GAATGTGAGCATCGGTTCTAATTTAG -3'
(R):5'- CAGTCTGTCTTCTGTGGCCTTG -3'

Posted On

2016-04-27