Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Ift74'

250886

Institutional Source

Beutler Lab

Gene Symbol

Ift74

Ensembl Gene

ENSMUSG00000028576

Gene Name

intraflagellar transport 74

Synonyms

Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94502728-94581466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94541265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 230 (Y230C)

Ref Sequence

ENSEMBL: ENSMUSP00000102721 (fasta)

Gene Model

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

AlphaFold

Q8BKE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030311
AA Change: Y230C

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

SMART Domains

Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: Y230C

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 damaging
Transcript: ENSMUST00000107104
AA Change: Y230C

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

SMART Domains

Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: Y230C

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: 98.6%
10x: 97.3%
20x: 95.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC024139	A	G	15: 76,005,939 (GRCm39)	W421R	probably damaging	Het
Car11	T	C	7: 45,351,909 (GRCm39)	S113P	probably benign	Het
Ccdc146	C	T	5: 21,510,267 (GRCm39)	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,722,133 (GRCm39)	T283A	probably benign	Het
Ckap5	A	G	2: 91,419,043 (GRCm39)	I1118V	probably benign	Het
Copa	C	T	1: 171,948,971 (GRCm39)	Q1199*	probably null	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cspp1	A	G	1: 10,174,530 (GRCm39)	D661G	probably damaging	Het
Dab2	A	G	15: 6,466,474 (GRCm39)	Q729R	possibly damaging	Het
Dnah9	T	C	11: 65,924,751 (GRCm39)	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,609,681 (GRCm39)	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,196,133 (GRCm39)	V42A	probably benign	Het
Evc	A	G	5: 37,467,581 (GRCm39)	V566A	probably benign	Het
Fcrl2	T	C	3: 87,164,656 (GRCm39)	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,539,364 (GRCm39)	R171G	probably damaging	Het
Galnt17	G	A	5: 131,140,661 (GRCm39)	P152L	probably damaging	Het
Gfi1	A	G	5: 107,869,297 (GRCm39)	L245P	probably damaging	Het
Heatr4	T	C	12: 84,027,237 (GRCm39)	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,589,705 (GRCm39)	N294D	probably benign	Het
Igsf10	C	T	3: 59,232,875 (GRCm39)	V1953I	probably benign	Het
Ikzf5	T	C	7: 130,998,490 (GRCm39)	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,331,789 (GRCm39)	T259S	possibly damaging	Het
Itgae	T	A	11: 73,005,752 (GRCm39)	D305E	probably damaging	Het
Kif23	A	C	9: 61,844,758 (GRCm39)	D90E	probably benign	Het
Kprp	A	G	3: 92,731,770 (GRCm39)	F427L	unknown	Het
Lmnb1	T	A	18: 56,864,177 (GRCm39)	Y261N	probably damaging	Het
Megf8	T	C	7: 25,016,981 (GRCm39)	V17A	probably benign	Het
Mfap4	T	C	11: 61,378,057 (GRCm39)	Y190H	probably benign	Het
Mlh1	T	C	9: 111,065,085 (GRCm39)		probably null	Het
Mocos	C	A	18: 24,809,686 (GRCm39)	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,774,822 (GRCm39)	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,296,201 (GRCm39)	I197F	possibly damaging	Het
Nefm	A	G	14: 68,361,235 (GRCm39)	L343P	probably damaging	Het
Nfatc4	A	G	14: 56,070,291 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,148,655 (GRCm39)		probably null	Het
Nlrp4f	A	T	13: 65,342,157 (GRCm39)	L496*	probably null	Het
Nom1	T	C	5: 29,648,415 (GRCm39)	F654S	probably damaging	Het
Or4k2	A	T	14: 50,424,304 (GRCm39)	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,278,639 (GRCm39)	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,608,933 (GRCm39)	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pik3ca	C	T	3: 32,490,697 (GRCm39)	R115*	probably null	Het
Pik3ca	T	C	3: 32,498,034 (GRCm39)	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,244,594 (GRCm39)	E218K	possibly damaging	Het
Prex1	G	T	2: 166,443,692 (GRCm39)	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,247,866 (GRCm39)	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,366,880 (GRCm39)	N47K	probably benign	Het
Sec61a2	G	T	2: 5,878,556 (GRCm39)	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,234,715 (GRCm39)	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,076,982 (GRCm39)	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,249,113 (GRCm39)	I765F	probably damaging	Het
Snap91	A	T	9: 86,761,603 (GRCm39)	M1K	probably null	Het
Spef1l	T	C	7: 139,558,474 (GRCm39)	D41G	probably damaging	Het
Strc	T	C	2: 121,195,592 (GRCm39)	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,245,615 (GRCm39)	T207M	possibly damaging	Het
Tchp	T	C	5: 114,847,580 (GRCm39)		probably null	Het
Tln1	A	T	4: 43,539,668 (GRCm39)	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,922,594 (GRCm39)	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,723,055 (GRCm39)	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,322,178 (GRCm39)	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,445,707 (GRCm39)	S673A	possibly damaging	Het
Vta1	G	A	10: 14,581,171 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,766,756 (GRCm39)	T500A	probably benign	Het
Zfp784	T	A	7: 5,039,116 (GRCm39)	Q147H	possibly damaging	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
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
R5934:Ift74	UTSW	4	94,520,971 (GRCm39)	missense	probably benign
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'- TAAGTCTGCGCTGATGTGATCAAG -3'
(R):5'- CTGTGGGAATTAGCTGAGGC -3'

Sequencing Primer
(F):5'- GCGCTGATGTGATCAAGTTTTATATG -3'
(R):5'- AGCTGAGGCCCTTGTTACAATGAG -3'

Posted On

2014-12-04