Mutagenetix > Incidental Mutation

Incidental Mutation 'R9029:Ift74'

686926

Institutional Source

Beutler Lab

Gene Symbol

Ift74

Ensembl Gene

ENSMUSG00000028576

Gene Name

intraflagellar transport 74

Synonyms

Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo

MMRRC Submission

068858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94502728-94581466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94506271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 18 (I18T)

Ref Sequence

ENSEMBL: ENSMUSP00000102721 (fasta)

Gene Model

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

AlphaFold

Q8BKE9

Predicted Effect

probably benign
Transcript: ENSMUST00000030311
AA Change: I18T

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: I18T

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: ENSMUST00000107104
AA Change: I18T

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: I18T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,591,460 (GRCm39)	K582M	probably benign	Het
Catsper3	T	G	13: 55,954,147 (GRCm39)	V305G	probably damaging	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cpne3	A	G	4: 19,535,292 (GRCm39)	Y247H	possibly damaging	Het
Cramp1	C	G	17: 25,232,884 (GRCm39)	A39P	probably damaging	Het
Cyp26b1	A	T	6: 84,554,035 (GRCm39)	V194E	probably benign	Het
Dchs1	A	G	7: 105,402,919 (GRCm39)	S3208P	probably benign	Het
Dhrs3	A	G	4: 144,653,755 (GRCm39)	Y292C	probably damaging	Het
Eif3l	T	C	15: 78,968,412 (GRCm39)	V227A	probably damaging	Het
Eif4enif1	T	C	11: 3,174,716 (GRCm39)	V290A	probably damaging	Het
Epb41l4a	A	C	18: 34,012,042 (GRCm39)	Y159*	probably null	Het
Gm5460	T	A	14: 33,739,326 (GRCm39)	S103T		Het
Gsto1	A	T	19: 47,852,837 (GRCm39)	Y224F	probably benign	Het
Hpd	G	A	5: 123,313,973 (GRCm39)	T271M	probably damaging	Het
Kif12	A	G	4: 63,087,704 (GRCm39)	C260R	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Luc7l3	A	G	11: 94,188,676 (GRCm39)	V201A	unknown	Het
Mcrip2	T	C	17: 26,082,989 (GRCm39)	E146G	probably damaging	Het
Mctp1	T	A	13: 76,836,741 (GRCm39)	Y323N	probably benign	Het
Micu2	T	A	14: 58,156,363 (GRCm39)	I370F	probably damaging	Het
Mug2	T	A	6: 122,061,328 (GRCm39)	V1416E	probably damaging	Het
Mup3	T	C	4: 62,003,540 (GRCm39)	N110D	probably damaging	Het
Nav3	C	T	10: 109,699,613 (GRCm39)	D294N	possibly damaging	Het
Nphs2	G	A	1: 156,140,592 (GRCm39)	A110T	probably benign	Het
Or1a1	T	C	11: 74,086,563 (GRCm39)	I78T	possibly damaging	Het
Or5t7	A	G	2: 86,506,831 (GRCm39)	M282T	probably damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Otof	C	T	5: 30,527,419 (GRCm39)		probably null	Het
Pgrmc2	G	T	3: 41,037,105 (GRCm39)	R109S	probably benign	Het
Plb1	G	A	5: 32,439,079 (GRCm39)	V214I	probably damaging	Het
Ppp2r5d	C	T	17: 46,998,906 (GRCm39)	S52N	probably benign	Het
Rrp12	C	A	19: 41,859,718 (GRCm39)	E1082*	probably null	Het
Skint3	A	G	4: 112,111,151 (GRCm39)	E92G	probably damaging	Het
Slc12a1	C	G	2: 124,996,004 (GRCm39)	N52K	probably benign	Het
Smu1	A	G	4: 40,738,361 (GRCm39)	Y458H	probably damaging	Het
Spsb3	C	T	17: 25,110,506 (GRCm39)	P317S	unknown	Het
Ssc5d	A	T	7: 4,930,919 (GRCm39)	Q167L	probably damaging	Het
Ssh2	T	C	11: 77,328,454 (GRCm39)	V340A	probably damaging	Het
Stag3	G	A	5: 138,296,296 (GRCm39)	R453H	probably damaging	Het
Svil	T	A	18: 5,056,239 (GRCm39)	F371I	probably benign	Het
Tas2r140	A	C	6: 133,032,181 (GRCm39)	S192R	possibly damaging	Het
Tdrp	T	C	8: 14,003,840 (GRCm39)	I166V	possibly damaging	Het
Tgm3	C	A	2: 129,871,680 (GRCm39)	Q269K	probably benign	Het
Thsd7b	G	A	1: 130,087,426 (GRCm39)	C1181Y	probably damaging	Het
Tinag	A	T	9: 76,934,296 (GRCm39)		probably benign	Het
Tnrc6b	T	C	15: 80,763,179 (GRCm39)	V227A	possibly damaging	Het
Tox3	A	C	8: 90,996,864 (GRCm39)	L133R	possibly damaging	Het
Tshz1	A	T	18: 84,031,639 (GRCm39)	I923N	probably damaging	Het
Vps13c	T	A	9: 67,855,429 (GRCm39)	V2498D	probably damaging	Het
Vps41	T	A	13: 18,994,723 (GRCm39)		probably null	Het
Xylt2	T	C	11: 94,555,462 (GRCm39)	D850G	probably damaging	Het
Zfp229	T	A	17: 21,964,321 (GRCm39)	S184T	possibly damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp595	C	A	13: 67,468,989 (GRCm39)	M12I	probably benign	Het
Zfp750	T	C	11: 121,403,149 (GRCm39)	Q533R	probably benign	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
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
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'- AGTGTCTTGCCTTTACAGACATG -3'
(R):5'- ATGGCCTTATTCTTCCACATTGTAG -3'

Sequencing Primer
(F):5'- GGGCCCCAGGTATTGAACTCATATC -3'
(R):5'- GCAGATTCTCAACTTACTGC -3'

Posted On

2021-11-19