Mutagenetix > Incidental Mutation

Incidental Mutation 'R5934:Ift74'

501733

Institutional Source

Beutler Lab

Gene Symbol

Ift74

Ensembl Gene

ENSMUSG00000028576

Gene Name

intraflagellar transport 74

Synonyms

Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo

MMRRC Submission

044128-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94502728-94581466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94520971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 175 (M175L)

Ref Sequence

ENSEMBL: ENSMUSP00000102721 (fasta)

Gene Model

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

AlphaFold

Q8BKE9

Predicted Effect

probably benign
Transcript: ENSMUST00000030311
AA Change: M175L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: M175L

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 benign
Transcript: ENSMUST00000107104
AA Change: M175L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: M175L

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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
Abcb4	T	C	5: 8,980,806 (GRCm39)	V596A	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg1l	G	A	10: 42,194,682 (GRCm39)	T370M	probably damaging	Het
Aldh2	T	C	5: 121,717,678 (GRCm39)	T118A	probably benign	Het
Apcdd1	C	T	18: 63,084,940 (GRCm39)	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,299 (GRCm39)		probably benign	Het
Calhm5	A	G	10: 33,968,198 (GRCm39)	V285A	possibly damaging	Het
Cd96	G	T	16: 45,938,266 (GRCm39)	D66E	probably benign	Het
Cdh5	T	A	8: 104,864,900 (GRCm39)	V506E	probably benign	Het
Cep70	T	C	9: 99,136,318 (GRCm39)	I7T	probably benign	Het
Ckb	A	T	12: 111,636,663 (GRCm39)	V237D	probably damaging	Het
Col6a6	C	T	9: 105,644,274 (GRCm39)	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Ddhd2	A	G	8: 26,243,140 (GRCm39)	S19P	probably damaging	Het
Dnah17	G	T	11: 117,931,928 (GRCm39)	D3681E	probably benign	Het
Dop1a	T	A	9: 86,424,495 (GRCm39)	Y2068*	probably null	Het
Fryl	T	C	5: 73,248,060 (GRCm39)	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,817,092 (GRCm39)	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,139,664 (GRCm39)	V202A	probably damaging	Het
Gmeb2	T	C	2: 180,897,367 (GRCm39)	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,045,958 (GRCm39)	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,417,607 (GRCm39)	V190L	possibly damaging	Het
Heg1	C	T	16: 33,547,289 (GRCm39)	T461M	probably damaging	Het
Hspg2	A	G	4: 137,246,083 (GRCm39)	Y989C	probably damaging	Het
Kcnh3	G	A	15: 99,124,414 (GRCm39)	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,918,721 (GRCm39)	V702F	probably benign	Het
Klhl1	A	G	14: 96,360,651 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,618,249 (GRCm39)	V916A	probably benign	Het
Macir	A	T	1: 97,573,655 (GRCm39)	C137S	possibly damaging	Het
Mpp4	A	T	1: 59,160,535 (GRCm39)	D589E	probably damaging	Het
Msl2	T	C	9: 100,979,017 (GRCm39)	C464R	probably damaging	Het
Mucl2	A	T	15: 103,927,832 (GRCm39)	S42T	probably benign	Het
Musk	T	A	4: 58,373,613 (GRCm39)	L838Q	probably damaging	Het
Nos1	A	G	5: 118,074,510 (GRCm39)	H1052R	probably damaging	Het
Or10d4b	C	T	9: 39,534,479 (GRCm39)	T20I	probably damaging	Het
Or10v1	A	G	19: 11,874,293 (GRCm39)	R303G	probably benign	Het
Or1j20	T	A	2: 36,760,280 (GRCm39)	I234N	probably benign	Het
Or2at1	A	T	7: 99,416,596 (GRCm39)	I76F	probably damaging	Het
Or4d2	T	C	11: 87,784,049 (GRCm39)	R234G	possibly damaging	Het
Or52e15	C	A	7: 104,645,385 (GRCm39)	C242F	probably damaging	Het
Or56a5	G	A	7: 104,792,867 (GRCm39)	S211F	probably benign	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8u8	T	A	2: 86,012,446 (GRCm39)	Q3L	probably benign	Het
Pard3	T	G	8: 128,115,819 (GRCm39)	L636R	probably damaging	Het
Pigr	A	T	1: 130,772,264 (GRCm39)	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369 (GRCm39)	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,369,060 (GRCm39)	V1992E	probably damaging	Het
Psma5-ps	T	C	10: 85,150,145 (GRCm39)		noncoding transcript	Het
Ptpdc1	T	C	13: 48,739,845 (GRCm39)	K468E	probably benign	Het
Rab22a	A	G	2: 173,503,297 (GRCm39)	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,245 (GRCm39)	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979 (GRCm39)	G660D	probably damaging	Het
Rgs4	T	C	1: 169,572,807 (GRCm39)	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,599,040 (GRCm39)	D4645E	probably damaging	Het
Sf3b3	A	G	8: 111,550,102 (GRCm39)	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,701,672 (GRCm39)	R430L	probably damaging	Het
Slfn1	T	A	11: 83,012,770 (GRCm39)	Y295*	probably null	Het
Slfn5	C	T	11: 82,847,418 (GRCm39)	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,707,629 (GRCm39)		probably null	Het
Tchh	A	T	3: 93,351,419 (GRCm39)	Q286H	unknown	Het
Tmem184c	A	T	8: 78,331,352 (GRCm39)	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,656,266 (GRCm39)	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,023,601 (GRCm39)	L253F	probably damaging	Het
Usp19	C	T	9: 108,369,766 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,355,148 (GRCm39)	I3303K	possibly damaging	Het
Zfp574	G	A	7: 24,779,757 (GRCm39)	A260T	probably benign	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	Het

Other mutations in Ift74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Ift74	APN	4	94,581,259 (GRCm39)	missense	probably damaging	1.00
IGL01534:Ift74	APN	4	94,568,181 (GRCm39)	missense	probably benign	0.00
IGL01701:Ift74	APN	4	94,550,895 (GRCm39)	missense	possibly damaging	0.94
IGL02155:Ift74	APN	4	94,567,488 (GRCm39)	missense	probably benign
IGL02455:Ift74	APN	4	94,524,068 (GRCm39)	nonsense	probably null
IGL02877:Ift74	APN	4	94,513,018 (GRCm39)	critical splice donor site	probably null
IGL03389:Ift74	APN	4	94,510,149 (GRCm39)	missense	possibly damaging	0.57
P0005:Ift74	UTSW	4	94,550,813 (GRCm39)	splice site	probably benign
PIT4243001:Ift74	UTSW	4	94,575,141 (GRCm39)	missense	possibly damaging	0.94
R0211:Ift74	UTSW	4	94,567,492 (GRCm39)	missense	probably benign	0.05
R0211:Ift74	UTSW	4	94,567,492 (GRCm39)	missense	probably benign	0.05
R1019:Ift74	UTSW	4	94,524,072 (GRCm39)	missense	probably benign	0.20
R1240:Ift74	UTSW	4	94,581,174 (GRCm39)	splice site	probably null
R1699:Ift74	UTSW	4	94,573,940 (GRCm39)	missense	probably benign	0.09
R1937:Ift74	UTSW	4	94,550,883 (GRCm39)	missense	probably benign	0.10
R2114:Ift74	UTSW	4	94,515,496 (GRCm39)	missense	probably benign	0.00
R2116:Ift74	UTSW	4	94,515,496 (GRCm39)	missense	probably benign	0.00
R2117:Ift74	UTSW	4	94,515,496 (GRCm39)	missense	probably benign	0.00
R2181:Ift74	UTSW	4	94,520,951 (GRCm39)	missense	probably damaging	0.98
R2680:Ift74	UTSW	4	94,541,265 (GRCm39)	missense	probably damaging	1.00
R3434:Ift74	UTSW	4	94,510,089 (GRCm39)	critical splice acceptor site	probably null
R3435:Ift74	UTSW	4	94,510,089 (GRCm39)	critical splice acceptor site	probably null
R4080:Ift74	UTSW	4	94,541,149 (GRCm39)	splice site	probably null
R4379:Ift74	UTSW	4	94,568,171 (GRCm39)	missense	probably benign	0.00
R4777:Ift74	UTSW	4	94,541,234 (GRCm39)	missense	probably benign	0.00
R5197:Ift74	UTSW	4	94,550,833 (GRCm39)	missense	probably benign	0.00
R5994:Ift74	UTSW	4	94,579,961 (GRCm39)	missense	possibly damaging	0.86
R6639:Ift74	UTSW	4	94,552,496 (GRCm39)	intron	probably benign
R6781:Ift74	UTSW	4	94,515,539 (GRCm39)	missense	probably damaging	1.00
R7156:Ift74	UTSW	4	94,549,189 (GRCm39)	missense	possibly damaging	0.95
R7239:Ift74	UTSW	4	94,541,187 (GRCm39)	missense	probably benign	0.00
R7899:Ift74	UTSW	4	94,510,214 (GRCm39)	missense	possibly damaging	0.90
R8814:Ift74	UTSW	4	94,550,873 (GRCm39)	nonsense	probably null
R8944:Ift74	UTSW	4	94,510,128 (GRCm39)	missense	probably damaging	1.00
R9029:Ift74	UTSW	4	94,506,271 (GRCm39)	missense	probably benign	0.11
R9112:Ift74	UTSW	4	94,575,103 (GRCm39)	missense	probably benign	0.00
R9615:Ift74	UTSW	4	94,550,822 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGACAGTCTCTGATTACTTCTC -3'
(R):5'- TCTTGATGCCTCAGAGAGTGGG -3'

Sequencing Primer
(F):5'- CAGTCTCTGATTACTTCTCACTTTTC -3'
(R):5'- GGTGGAGGTAGATATCATCTTAGAG -3'

Posted On

2017-12-01