Mutagenetix > Incidental Mutation

Incidental Mutation 'R7239:Ift74'

563060

Institutional Source

Beutler Lab

Gene Symbol

Ift74

Ensembl Gene

ENSMUSG00000028576

Gene Name

intraflagellar transport 74

Synonyms

Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo

MMRRC Submission

045346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7239 (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 94541187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 204 (V204A)

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: V204A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: V204A

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: V204A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: V204A

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

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,472,268 (GRCm39)	V144A	probably damaging	Het
Abca5	A	T	11: 110,217,530 (GRCm39)	Y109N	possibly damaging	Het
Abcb5	T	C	12: 118,892,460 (GRCm39)	Q433R	probably benign	Het
Adamts7	G	A	9: 90,068,610 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,624,731 (GRCm39)	D3746G	possibly damaging	Het
Arhgap29	C	T	3: 121,782,599 (GRCm39)	S159L	probably benign	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Atp1a3	G	A	7: 24,700,129 (GRCm39)	P77L	probably damaging	Het
B4galt1	T	C	4: 40,812,754 (GRCm39)	D257G	probably damaging	Het
Bin1	T	A	18: 32,539,224 (GRCm39)	N52K	probably damaging	Het
Catsperg2	A	G	7: 29,409,507 (GRCm39)	M562T	probably benign	Het
Ccdc33	G	A	9: 57,940,192 (GRCm39)	Q713*	probably null	Het
Cd96	A	T	16: 45,929,477 (GRCm39)	L156Q	probably damaging	Het
Clpb	A	G	7: 101,360,662 (GRCm39)	T231A	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnmt3a	A	T	12: 3,922,850 (GRCm39)	Q151L	probably benign	Het
Dock2	C	T	11: 34,181,677 (GRCm39)	V1629M	probably benign	Het
Edem1	G	A	6: 108,831,341 (GRCm39)	D601N	probably benign	Het
Eno2	C	T	6: 124,745,228 (GRCm39)	V20M	probably damaging	Het
Eny2	A	C	15: 44,297,250 (GRCm39)	D52A	probably benign	Het
Esp36	T	C	17: 38,728,132 (GRCm39)	R93G	possibly damaging	Het
Fam227a	A	G	15: 79,518,263 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,037,989 (GRCm39)	H3880Q	possibly damaging	Het
Fbxw24	A	T	9: 109,434,598 (GRCm39)	V334E	possibly damaging	Het
Flrt1	T	C	19: 7,073,329 (GRCm39)	Q406R	probably benign	Het
Frmpd2	A	G	14: 33,274,034 (GRCm39)	N1092S	probably benign	Het
Gm904	C	A	13: 50,799,287 (GRCm39)	T82K	probably benign	Het
Gnas	G	C	2: 174,140,408 (GRCm39)	G252R	unknown	Het
Gpatch2l	A	G	12: 86,307,349 (GRCm39)		probably null	Het
H2ac6	A	T	13: 23,867,593 (GRCm39)	I103N	probably damaging	Het
Ikzf4	A	G	10: 128,477,113 (GRCm39)	L119P	probably damaging	Het
Ing3	G	A	6: 21,952,193 (GRCm39)	E56K	probably damaging	Het
Klhl25	T	C	7: 75,516,516 (GRCm39)	I474T	probably benign	Het
Klhl5	T	C	5: 65,318,529 (GRCm39)	V556A	probably damaging	Het
Krt14	A	T	11: 100,095,081 (GRCm39)	M382K	probably benign	Het
Lmcd1	T	C	6: 112,292,745 (GRCm39)	V199A	possibly damaging	Het
Lpcat4	T	A	2: 112,073,052 (GRCm39)	F200I	possibly damaging	Het
Lrp1b	T	C	2: 40,894,725 (GRCm39)	T2282A		Het
Lrrk1	T	C	7: 65,911,903 (GRCm39)	T1886A	probably benign	Het
Meis2	T	C	2: 115,889,484 (GRCm39)		probably null	Het
Mki67	C	T	7: 135,301,905 (GRCm39)	R1043K	possibly damaging	Het
Myct1	G	T	10: 5,554,601 (GRCm39)	R156L	possibly damaging	Het
Nckap5l	G	T	15: 99,324,090 (GRCm39)	H804Q	probably damaging	Het
Ndst3	T	G	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nipbl	A	T	15: 8,321,619 (GRCm39)		probably null	Het
Npy	A	G	6: 49,800,587 (GRCm39)	N4D	probably benign	Het
Or7g35	A	T	9: 19,496,487 (GRCm39)	Y218F	probably damaging	Het
Osgin2	T	C	4: 16,008,748 (GRCm39)	S18G	probably benign	Het
Pcdha9	T	G	18: 37,131,551 (GRCm39)	F207V	probably benign	Het
Pcdhb13	A	T	18: 37,577,697 (GRCm39)	I692F	probably damaging	Het
Pde3b	T	A	7: 114,015,384 (GRCm39)	V200E	probably damaging	Het
Ppp6r3	A	T	19: 3,543,981 (GRCm39)	L345I	probably benign	Het
Psd2	G	A	18: 36,113,472 (GRCm39)	A315T	probably damaging	Het
Rnf111	G	A	9: 70,376,655 (GRCm39)	T328I	probably damaging	Het
Rnf213	T	C	11: 119,349,614 (GRCm39)	L3825P		Het
Rtl1	C	T	12: 109,558,909 (GRCm39)	V977I	probably benign	Het
Scn1a	G	A	2: 66,108,000 (GRCm39)		probably null	Het
Slc25a2	G	T	18: 37,770,748 (GRCm39)	N260K	probably benign	Het
Sprtn	T	C	8: 125,626,983 (GRCm39)	V121A	probably damaging	Het
Ssx2ip	T	G	3: 146,133,771 (GRCm39)	L260W	probably damaging	Het
Syde1	G	A	10: 78,424,615 (GRCm39)	R406C	probably damaging	Het
Tab1	A	G	15: 80,017,372 (GRCm39)	R6G	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,385,020 (GRCm39)	V526I	possibly damaging	Het
Tfap2b	T	C	1: 19,304,404 (GRCm39)	F405L	probably damaging	Het
Trbv13-1	C	A	6: 41,093,325 (GRCm39)	T87K	probably benign	Het
Trmt44	G	T	5: 35,732,130 (GRCm39)	A87E	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,617,634 (GRCm39)	D16279G	probably damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Ugt2b37	T	A	5: 87,402,590 (GRCm39)	I14L	probably benign	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r184	C	T	7: 25,966,602 (GRCm39)	P116L	possibly damaging	Het
Zfp426	T	C	9: 20,381,887 (GRCm39)	T367A	probably benign	Het
Zfp647	A	T	15: 76,795,956 (GRCm39)	C235S	probably 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
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
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'- TCAGATGTACAAGGCCTGGAAG -3'
(R):5'- GTTCTCAGAGACCCTGGTTTTG -3'

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

Posted On

2019-06-26