Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02327:Cfap97'

288536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap97

Ensembl Gene

ENSMUSG00000031631

Gene Name

cilia and flagella associated protein 97

Synonyms

1110068E21Rik, 4933411K20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02327

Quality Score

Status

Chromosome

Chromosomal Location

46615515-46648627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46623179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 190 (S190T)

Ref Sequence

ENSEMBL: ENSMUSP00000106005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034048] [ENSMUST00000110376] [ENSMUST00000145229] [ENSMUST00000154040] [ENSMUST00000164504]

AlphaFold

Q6ZPR1

Predicted Effect

probably benign
Transcript: ENSMUST00000034048
AA Change: S190T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034048
Gene: ENSMUSG00000031631
AA Change: S190T

Domain	Start	End	E-Value	Type
low complexity region	113	126	N/A	INTRINSIC
low complexity region	176	201	N/A	INTRINSIC
low complexity region	287	294	N/A	INTRINSIC
Pfam:KIAA1430	352	457	4.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110376
AA Change: S190T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106005
Gene: ENSMUSG00000031631
AA Change: S190T

Domain	Start	End	E-Value	Type
low complexity region	113	126	N/A	INTRINSIC
low complexity region	176	201	N/A	INTRINSIC
low complexity region	287	294	N/A	INTRINSIC
Pfam:KIAA1430	353	456	1.4e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145080

Predicted Effect

probably damaging
Transcript: ENSMUST00000145229
AA Change: S190T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115734
Gene: ENSMUSG00000031631
AA Change: S190T

Domain	Start	End	E-Value	Type
low complexity region	113	126	N/A	INTRINSIC
low complexity region	176	201	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000154040
AA Change: S190T

SMART Domains

Protein: ENSMUSP00000120522
Gene: ENSMUSG00000031631
AA Change: S190T

Domain	Start	End	E-Value	Type
low complexity region	113	126	N/A	INTRINSIC
low complexity region	176	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164504
AA Change: S190T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133211
Gene: ENSMUSG00000031631
AA Change: S190T

Domain	Start	End	E-Value	Type
low complexity region	113	126	N/A	INTRINSIC
low complexity region	176	201	N/A	INTRINSIC
low complexity region	287	294	N/A	INTRINSIC
Pfam:KIAA1430	352	457	4.4e-21	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd9	A	T	12: 110,943,849 (GRCm39)	C29S	probably damaging	Het
Ccdc66	G	A	14: 27,215,343 (GRCm39)	A399V	probably damaging	Het
Ccl12	A	G	11: 81,993,948 (GRCm39)	I68M	possibly damaging	Het
Cd244a	T	C	1: 171,386,909 (GRCm39)	V6A	probably benign	Het
Chic2	G	T	5: 75,187,741 (GRCm39)	C106*	probably null	Het
Ctdsp2	G	A	10: 126,832,251 (GRCm39)	D237N	probably benign	Het
Cyp2a22	A	T	7: 26,634,206 (GRCm39)	M316K	probably damaging	Het
Cyp3a25	A	G	5: 145,923,731 (GRCm39)	F304S	possibly damaging	Het
Ddc	A	T	11: 11,813,739 (GRCm39)	V209D	probably damaging	Het
Dhx16	A	G	17: 36,194,717 (GRCm39)	K446R	probably benign	Het
Fgd3	T	C	13: 49,439,274 (GRCm39)	K241E	probably damaging	Het
Hps1	G	T	19: 42,744,784 (GRCm39)		probably benign	Het
Inpp4b	C	T	8: 82,768,591 (GRCm39)	T700I	probably benign	Het
Kremen2	T	A	17: 23,962,543 (GRCm39)	M157L	probably benign	Het
Lrwd1	T	C	5: 136,152,318 (GRCm39)	Y582C	probably damaging	Het
Macf1	T	A	4: 123,365,523 (GRCm39)	R1514S	probably benign	Het
Mex3c	T	A	18: 73,723,781 (GRCm39)	C625S	probably damaging	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Ncf2	A	T	1: 152,692,744 (GRCm39)	Y87F	possibly damaging	Het
Neo1	T	C	9: 58,810,371 (GRCm39)	T1027A	probably benign	Het
Nfkbib	G	T	7: 28,458,568 (GRCm39)	P347Q	probably benign	Het
Nr1h2	G	A	7: 44,200,924 (GRCm39)		probably benign	Het
Or1e25	A	T	11: 73,493,981 (GRCm39)	T192S	probably damaging	Het
Or2t43	T	A	11: 58,457,761 (GRCm39)	R137W	probably damaging	Het
Or9m2	A	T	2: 87,820,601 (GRCm39)	I49F	probably damaging	Het
Oxct1	A	G	15: 4,066,571 (GRCm39)		probably null	Het
Pak1ip1	T	G	13: 41,165,893 (GRCm39)	N308K	probably benign	Het
Prpf38a	T	C	4: 108,425,607 (GRCm39)	R224G	unknown	Het
Scfd1	T	C	12: 51,436,100 (GRCm39)	V83A	possibly damaging	Het
Tmem131	C	T	1: 36,838,103 (GRCm39)	G1545D	probably damaging	Het
Trav13n-4	A	T	14: 53,601,567 (GRCm39)		probably benign	Het
Ttc3	A	G	16: 94,248,967 (GRCm39)	D1155G	probably damaging	Het
Unc80	G	A	1: 66,680,832 (GRCm39)	V2143I	probably benign	Het
Vmn2r16	T	C	5: 109,487,987 (GRCm39)	Y287H	probably benign	Het
Vmn2r59	A	G	7: 41,661,655 (GRCm39)	V720A	probably benign	Het
Wars1	T	A	12: 108,832,227 (GRCm39)		probably null	Het
Wdcp	A	G	12: 4,901,115 (GRCm39)	K324E	possibly damaging	Het
Wdfy3	A	T	5: 102,036,058 (GRCm39)	L2105H	probably damaging	Het
Xirp2	A	T	2: 67,340,444 (GRCm39)	D895V	probably damaging	Het
Zscan10	A	T	17: 23,826,546 (GRCm39)		probably benign	Het

Other mutations in Cfap97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Cfap97	APN	8	46,623,222 (GRCm39)	missense	probably damaging	1.00
IGL01335:Cfap97	APN	8	46,623,492 (GRCm39)	missense	probably damaging	1.00
IGL02457:Cfap97	APN	8	46,623,315 (GRCm39)	missense	possibly damaging	0.63
R4289:Cfap97	UTSW	8	46,645,698 (GRCm39)	missense	probably benign	0.03
R4777:Cfap97	UTSW	8	46,648,334 (GRCm39)	nonsense	probably null
R4844:Cfap97	UTSW	8	46,622,712 (GRCm39)	missense	possibly damaging	0.85
R5369:Cfap97	UTSW	8	46,622,687 (GRCm39)	missense	probably damaging	1.00
R5574:Cfap97	UTSW	8	46,623,179 (GRCm39)	missense	probably damaging	1.00
R5914:Cfap97	UTSW	8	46,634,895 (GRCm39)	missense	probably damaging	0.97
R6227:Cfap97	UTSW	8	46,644,769 (GRCm39)	critical splice donor site	probably null
R6790:Cfap97	UTSW	8	46,623,113 (GRCm39)	missense	possibly damaging	0.81
R7409:Cfap97	UTSW	8	46,645,733 (GRCm39)	missense	probably benign	0.13
R7964:Cfap97	UTSW	8	46,623,237 (GRCm39)	missense	possibly damaging	0.85
R8077:Cfap97	UTSW	8	46,623,482 (GRCm39)	missense	possibly damaging	0.86
R8960:Cfap97	UTSW	8	46,623,605 (GRCm39)	missense	probably damaging	1.00
R8968:Cfap97	UTSW	8	46,623,114 (GRCm39)	missense	possibly damaging	0.86
R9186:Cfap97	UTSW	8	46,644,665 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-04-16