Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01607:Cfap74'

92306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap74

Ensembl Gene

ENSMUSG00000078490

Gene Name

cilia and flagella associated protein 74

Synonyms

2010015L04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01607

Quality Score

Status

Chromosome

Chromosomal Location

155493647-155551280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155503443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 95 (T95A)

Ref Sequence

ENSEMBL: ENSMUSP00000131899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123952] [ENSMUST00000151083]

AlphaFold

Q3UY96

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000094408

SMART Domains

Protein: ENSMUSP00000091975
Gene: ENSMUSG00000042233

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
coiled coil region	134	162	N/A	INTRINSIC
coiled coil region	333	378	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123952
AA Change: T95A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131899
Gene: ENSMUSG00000078490
AA Change: T95A

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145520

Predicted Effect

probably benign
Transcript: ENSMUST00000151083
AA Change: T95A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: T95A

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
coiled coil region	134	162	N/A	INTRINSIC
coiled coil region	333	378	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166921

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(7) : Targeted(2) Gene trapped(5)

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,243,823 (GRCm39)	K556E	possibly damaging	Het
Adgre4	A	C	17: 56,101,748 (GRCm39)		probably benign	Het
Ajap1	C	T	4: 153,516,736 (GRCm39)	G202S	probably damaging	Het
Catsperb	G	T	12: 101,446,985 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,200,778 (GRCm39)	D393V	probably benign	Het
Dis3l2	A	G	1: 86,673,209 (GRCm39)	T67A	probably benign	Het
Dnaja3	T	C	16: 4,511,259 (GRCm39)	F205L	probably damaging	Het
Dsc1	C	T	18: 20,222,720 (GRCm39)	C584Y	probably damaging	Het
Duox2	C	A	2: 122,122,800 (GRCm39)	V545L	probably benign	Het
Etaa1	A	G	11: 17,903,637 (GRCm39)	L53P	probably benign	Het
Gm14184	C	T	11: 99,590,490 (GRCm39)	C4Y	unknown	Het
Inpp4b	C	T	8: 82,737,292 (GRCm39)	A563V	probably benign	Het
Kcnc3	A	G	7: 44,240,728 (GRCm39)	D140G	probably damaging	Het
Ly6a	A	T	15: 74,867,262 (GRCm39)	M85K	probably benign	Het
Map4k2	C	T	19: 6,395,623 (GRCm39)		probably null	Het
Mttp	T	C	3: 137,810,459 (GRCm39)	Y652C	probably damaging	Het
Neu1	A	T	17: 35,153,692 (GRCm39)	N372I	probably benign	Het
Nuak2	G	A	1: 132,255,878 (GRCm39)	V184I	probably damaging	Het
Phf11a	T	C	14: 59,524,950 (GRCm39)	I85V	probably damaging	Het
Polr2e	C	A	10: 79,875,467 (GRCm39)	D3Y	probably damaging	Het
Ralb	A	G	1: 119,411,279 (GRCm39)	V20A	probably damaging	Het
Rln1	A	T	19: 29,309,260 (GRCm39)	V173D	probably benign	Het
Stk38l	T	A	6: 146,673,152 (GRCm39)	C304S	probably damaging	Het
Stk38l	T	C	6: 146,673,725 (GRCm39)		probably benign	Het
Tjp1	G	T	7: 64,985,926 (GRCm39)	D288E	possibly damaging	Het
Trpm3	A	G	19: 22,964,491 (GRCm39)	I1319V	probably benign	Het
Zic2	T	G	14: 122,716,294 (GRCm39)		probably benign	Het

Other mutations in Cfap74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
paranoid	UTSW	4	155,538,481 (GRCm39)	utr 5 prime	probably benign
sensibile	UTSW	4	155,525,743 (GRCm39)	missense	probably null	0.03
touchy	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
FR4304:Cfap74	UTSW	4	155,500,217 (GRCm39)	missense	possibly damaging	0.93
P0007:Cfap74	UTSW	4	155,506,685 (GRCm39)	missense	possibly damaging	0.83
PIT4434001:Cfap74	UTSW	4	155,548,421 (GRCm39)	missense	unknown
R0025:Cfap74	UTSW	4	155,510,572 (GRCm39)	missense	probably benign	0.22
R0034:Cfap74	UTSW	4	155,545,344 (GRCm39)	splice site	probably benign
R0193:Cfap74	UTSW	4	155,510,572 (GRCm39)	missense	probably benign	0.22
R0306:Cfap74	UTSW	4	155,549,896 (GRCm39)	unclassified	probably benign
R0427:Cfap74	UTSW	4	155,525,734 (GRCm39)	missense	probably benign	0.02
R0905:Cfap74	UTSW	4	155,503,153 (GRCm39)	critical splice donor site	probably null
R1116:Cfap74	UTSW	4	155,518,453 (GRCm39)	missense	probably benign	0.15
R1548:Cfap74	UTSW	4	155,518,502 (GRCm39)	missense	probably benign	0.45
R1950:Cfap74	UTSW	4	155,511,887 (GRCm39)	critical splice donor site	probably null
R2009:Cfap74	UTSW	4	155,504,724 (GRCm39)	missense	possibly damaging	0.77
R2029:Cfap74	UTSW	4	155,526,538 (GRCm39)	missense	possibly damaging	0.74
R2135:Cfap74	UTSW	4	155,514,408 (GRCm39)	missense	probably damaging	1.00
R2135:Cfap74	UTSW	4	155,514,397 (GRCm39)	missense	probably damaging	0.97
R2154:Cfap74	UTSW	4	155,513,753 (GRCm39)	missense	possibly damaging	0.94
R2413:Cfap74	UTSW	4	155,503,081 (GRCm39)	missense	possibly damaging	0.76
R2418:Cfap74	UTSW	4	155,540,166 (GRCm39)	utr 5 prime	probably benign
R2930:Cfap74	UTSW	4	155,522,627 (GRCm39)	missense	probably damaging	0.97
R3965:Cfap74	UTSW	4	155,531,174 (GRCm39)	missense	probably damaging	1.00
R4078:Cfap74	UTSW	4	155,540,128 (GRCm39)	missense	probably damaging	0.98
R4238:Cfap74	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
R4239:Cfap74	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
R4240:Cfap74	UTSW	4	155,547,529 (GRCm39)	missense	probably benign	0.27
R4491:Cfap74	UTSW	4	155,513,628 (GRCm39)	missense	probably benign	0.22
R4731:Cfap74	UTSW	4	155,548,059 (GRCm39)	intron	probably benign
R5333:Cfap74	UTSW	4	155,521,197 (GRCm39)	missense	probably damaging	0.99
R5362:Cfap74	UTSW	4	155,522,623 (GRCm39)	missense	probably damaging	0.98
R5425:Cfap74	UTSW	4	155,540,149 (GRCm39)	utr 5 prime	probably benign
R5468:Cfap74	UTSW	4	155,510,498 (GRCm39)	missense	probably benign	0.27
R5839:Cfap74	UTSW	4	155,507,207 (GRCm39)	critical splice donor site	probably null
R6010:Cfap74	UTSW	4	155,538,495 (GRCm39)	missense	possibly damaging	0.83
R6284:Cfap74	UTSW	4	155,536,253 (GRCm39)	missense	probably damaging	0.96
R6323:Cfap74	UTSW	4	155,548,395 (GRCm39)	missense	possibly damaging	0.54
R6389:Cfap74	UTSW	4	155,507,793 (GRCm39)	missense	possibly damaging	0.69
R6513:Cfap74	UTSW	4	155,525,743 (GRCm39)	missense	probably null	0.03
R6527:Cfap74	UTSW	4	155,506,722 (GRCm39)	splice site	probably null
R6785:Cfap74	UTSW	4	155,538,481 (GRCm39)	utr 5 prime	probably benign
R6980:Cfap74	UTSW	4	155,550,809 (GRCm39)	unclassified	probably benign
R7039:Cfap74	UTSW	4	155,538,565 (GRCm39)	critical splice donor site	probably null
R7077:Cfap74	UTSW	4	155,540,134 (GRCm39)	missense	unknown
R7116:Cfap74	UTSW	4	155,539,518 (GRCm39)	missense	unknown
R7202:Cfap74	UTSW	4	155,510,654 (GRCm39)	splice site	probably null
R7227:Cfap74	UTSW	4	155,545,405 (GRCm39)	nonsense	probably null
R7228:Cfap74	UTSW	4	155,549,507 (GRCm39)	missense	unknown
R7261:Cfap74	UTSW	4	155,549,831 (GRCm39)	missense	unknown
R7315:Cfap74	UTSW	4	155,547,476 (GRCm39)	missense	unknown
R7337:Cfap74	UTSW	4	155,544,472 (GRCm39)	missense	unknown
R7354:Cfap74	UTSW	4	155,549,804 (GRCm39)	missense	unknown
R7533:Cfap74	UTSW	4	155,500,200 (GRCm39)	missense
R7673:Cfap74	UTSW	4	155,547,513 (GRCm39)	missense	unknown
R7798:Cfap74	UTSW	4	155,507,079 (GRCm39)	missense
R7829:Cfap74	UTSW	4	155,513,694 (GRCm39)	missense
R7897:Cfap74	UTSW	4	155,514,351 (GRCm39)	missense
R8099:Cfap74	UTSW	4	155,539,489 (GRCm39)	missense	unknown
R8126:Cfap74	UTSW	4	155,511,831 (GRCm39)	missense
R8769:Cfap74	UTSW	4	155,503,105 (GRCm39)	missense
R8873:Cfap74	UTSW	4	155,539,465 (GRCm39)	missense	unknown
R8893:Cfap74	UTSW	4	155,531,152 (GRCm39)	missense	unknown
R8900:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R8954:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R8957:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R8982:Cfap74	UTSW	4	155,521,187 (GRCm39)	missense
R9008:Cfap74	UTSW	4	155,503,121 (GRCm39)	missense
R9406:Cfap74	UTSW	4	155,510,626 (GRCm39)	nonsense	probably null
R9606:Cfap74	UTSW	4	155,509,133 (GRCm39)	missense
R9641:Cfap74	UTSW	4	155,549,054 (GRCm39)	missense	unknown
R9647:Cfap74	UTSW	4	155,549,373 (GRCm39)	missense	unknown
R9655:Cfap74	UTSW	4	155,522,665 (GRCm39)	missense
R9761:Cfap74	UTSW	4	155,550,844 (GRCm39)	missense	unknown
R9797:Cfap74	UTSW	4	155,514,402 (GRCm39)	missense
T0970:Cfap74	UTSW	4	155,547,574 (GRCm39)	splice site	probably null
X0066:Cfap74	UTSW	4	155,548,421 (GRCm39)	missense	probably damaging	1.00
Z1176:Cfap74	UTSW	4	155,510,575 (GRCm39)	missense
Z1177:Cfap74	UTSW	4	155,539,370 (GRCm39)	start gained	probably benign

Posted On

2013-12-09