Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Ift74'

316800

Institutional Source

Beutler Lab

Gene Symbol

Ift74

Ensembl Gene

ENSMUSG00000028576

Gene Name

intraflagellar transport 74

Synonyms

Cmg1, 1700029H06Rik, Ccdc2, b2b796Clo

MMRRC Submission

040856-MU

Accession Numbers

NCBI RefSeq: NM_026319.2; MGI: 1914944

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94614491-94693229 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 94652912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030311] [ENSMUST00000053419] [ENSMUST00000107101] [ENSMUST00000107104]

AlphaFold

Q8BKE9

Predicted Effect

probably null
Transcript: ENSMUST00000030311

SMART Domains

Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
coiled coil region	98	271	N/A	INTRINSIC
coiled coil region	302	382	N/A	INTRINSIC
coiled coil region	430	490	N/A	INTRINSIC
coiled coil region	512	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053419

SMART Domains

Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799

Domain	Start	End	E-Value	Type
LRR	69	93	3.36e2	SMART
LRR	94	117	4.32e0	SMART
LRR	118	141	1.71e1	SMART
LRR	142	166	1.09e2	SMART
LRRCT	174	225	1.24e-6	SMART
Pfam:LRR19-TM	250	364	8.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107101

SMART Domains

Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799

Domain	Start	End	E-Value	Type
LRR	69	93	3.36e2	SMART
LRR	94	117	4.32e0	SMART
LRR	118	141	1.71e1	SMART
LRR	142	166	1.09e2	SMART
LRRCT	174	225	1.24e-6	SMART
Pfam:LRR19-TM	245	364	9.3e-47	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107104

SMART Domains

Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
coiled coil region	98	271	N/A	INTRINSIC
coiled coil region	302	352	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy. [provided by MGI curators]

Allele List at MGI

All alleles(23) : Targeted(2) Gene trapped(21)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	G	T	12: 55,304,613	V236F	possibly damaging	Het
Aass	A	T	6: 23,109,498	D324E	possibly damaging	Het
Adam7	T	C	14: 68,520,539	T245A	probably benign	Het
Adgrf3	G	A	5: 30,197,369	Q554*	probably null	Het
Aim2	T	C	1: 173,459,851		probably null	Het
Arhgef1	G	T	7: 24,925,846	D850Y	probably damaging	Het
Aspm	C	A	1: 139,470,755	Q1024K	probably damaging	Het
C7	T	C	15: 4,990,464	S734G	probably benign	Het
Ccdc158	A	T	5: 92,623,396	S987T	probably benign	Het
Chrna2	G	T	14: 66,143,417	G45V	probably benign	Het
Chrna2	C	A	14: 66,143,424	Y47*	probably null	Het
Clec2g	C	A	6: 128,981,324	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,101,574	S253G	probably benign	Het
Cttn	T	A	7: 144,457,724	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,802,529	V286A	probably benign	Het
Dcbld2	T	A	16: 58,465,373	S632T	probably damaging	Het
Dscam	A	T	16: 96,683,772	N1118K	probably benign	Het
Eif2a	C	T	3: 58,539,629	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382	C1068S	probably benign	Het
Fstl1	G	A	16: 37,822,603	V110I	probably benign	Het
Gpat2	T	C	2: 127,433,622	I465T	probably damaging	Het
Gpr137	C	T	19: 6,940,423		probably benign	Het
Hgsnat	A	G	8: 25,946,343	I561T	probably benign	Het
Ilf3	A	G	9: 21,403,134		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrrc41	C	A	4: 116,080,546		probably null	Het
Myh11	C	A	16: 14,224,059	R700L	possibly damaging	Het
Myo16	A	G	8: 10,562,240	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,740,488	M1488V	probably benign	Het
Naip6	A	T	13: 100,299,307	Y903N	probably damaging	Het
Nek6	A	G	2: 38,550,637	H19R	probably damaging	Het
Nktr	A	C	9: 121,741,126	T127P	probably damaging	Het
Noc4l	A	T	5: 110,649,872	D335E	probably benign	Het
Nsd1	A	G	13: 55,301,809	D1993G	probably damaging	Het
Olfr1377	G	A	11: 50,984,856	D52N	probably damaging	Het
Olfr190	A	T	16: 59,074,256	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,775,530	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,685,779	D127V	probably damaging	Het
Phrf1	T	C	7: 141,259,720		probably benign	Het
Phtf2	T	A	5: 20,813,296	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,577,981	R1200L	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prss12	A	G	3: 123,485,485	N404D	probably benign	Het
Ptch2	C	G	4: 117,111,206	A926G	probably damaging	Het
Ptpa	T	C	2: 30,443,305	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293	I853T	possibly damaging	Het
Reep6	G	A	10: 80,330,162		probably benign	Het
Rex2	T	A	4: 147,058,697	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,076	E55K	probably damaging	Het
Rtl6	T	C	15: 84,557,001	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,277,795	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,431,519	S505G	probably benign	Het
Scube1	T	G	15: 83,608,747	Q904P	probably damaging	Het
Sis	T	C	3: 72,921,184	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,214,066	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,998,581	E200G	probably damaging	Het
Stard13	C	A	5: 151,092,829		probably null	Het
Sybu	T	C	15: 44,718,943	K95R	probably damaging	Het
Trappc9	T	A	15: 72,941,947	D488V	probably damaging	Het
Txk	G	A	5: 72,700,663	P381S	probably damaging	Het
Ubr2	A	T	17: 46,988,722	M198K	probably benign	Het
Unc5a	A	T	13: 55,004,481	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,941,959	R231Q	probably damaging	Het
Wfdc1	T	A	8: 119,683,793		probably null	Het
Zfp667	T	G	7: 6,305,106	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,233	R823H	probably benign	Het

Other mutations in Ift74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Ift74	APN	4	94693022	missense	probably damaging	1.00
IGL01534:Ift74	APN	4	94679944	missense	probably benign	0.00
IGL01701:Ift74	APN	4	94662658	missense	possibly damaging	0.94
IGL02155:Ift74	APN	4	94679251	missense	probably benign
IGL02455:Ift74	APN	4	94635831	nonsense	probably null
IGL02877:Ift74	APN	4	94624781	critical splice donor site	probably null
IGL03389:Ift74	APN	4	94621912	missense	possibly damaging	0.57
P0005:Ift74	UTSW	4	94662576	splice site	probably benign
PIT4243001:Ift74	UTSW	4	94686904	missense	possibly damaging	0.94
R0211:Ift74	UTSW	4	94679255	missense	probably benign	0.05
R0211:Ift74	UTSW	4	94679255	missense	probably benign	0.05
R1019:Ift74	UTSW	4	94635835	missense	probably benign	0.20
R1240:Ift74	UTSW	4	94692937	splice site	probably null
R1699:Ift74	UTSW	4	94685703	missense	probably benign	0.09
R1937:Ift74	UTSW	4	94662646	missense	probably benign	0.10
R2114:Ift74	UTSW	4	94627259	missense	probably benign	0.00
R2116:Ift74	UTSW	4	94627259	missense	probably benign	0.00
R2117:Ift74	UTSW	4	94627259	missense	probably benign	0.00
R2181:Ift74	UTSW	4	94632714	missense	probably damaging	0.98
R2680:Ift74	UTSW	4	94653028	missense	probably damaging	1.00
R3434:Ift74	UTSW	4	94621852	critical splice acceptor site	probably null
R3435:Ift74	UTSW	4	94621852	critical splice acceptor site	probably null
R4379:Ift74	UTSW	4	94679934	missense	probably benign	0.00
R4777:Ift74	UTSW	4	94652997	missense	probably benign	0.00
R5197:Ift74	UTSW	4	94662596	missense	probably benign	0.00
R5934:Ift74	UTSW	4	94632734	missense	probably benign
R5994:Ift74	UTSW	4	94691724	missense	possibly damaging	0.86
R6639:Ift74	UTSW	4	94664259	intron	probably benign
R6781:Ift74	UTSW	4	94627302	missense	probably damaging	1.00
R7156:Ift74	UTSW	4	94660952	missense	possibly damaging	0.95
R7239:Ift74	UTSW	4	94652950	missense	probably benign	0.00
R7899:Ift74	UTSW	4	94621977	missense	possibly damaging	0.90
R8814:Ift74	UTSW	4	94662636	nonsense	probably null
R8944:Ift74	UTSW	4	94621891	missense	probably damaging	1.00
R9029:Ift74	UTSW	4	94618034	missense	probably benign	0.11
R9112:Ift74	UTSW	4	94686866	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCAGATGTACAAGGCCTGG -3'
(R):5'- TGCCTAGCATACAGTCCAGAG -3'

Sequencing Primer
(F):5'- GTACAAGGCCTGGAAGATTATATATG -3'
(R):5'- TACAGTCCAGAGTAATATCACCTG -3'

Posted On

2015-05-15