Mutagenetix > Incidental Mutation

Incidental Mutation 'R4289:Cfap97'

322337

Institutional Source

Beutler Lab

Gene Symbol

Cfap97

Ensembl Gene

ENSMUSG00000031631

Gene Name

cilia and flagella associated protein 97

Synonyms

1110068E21Rik, 4933411K20Rik

MMRRC Submission

041654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4289 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46615515-46648627 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46645698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 525 (N525K)

Ref Sequence

ENSEMBL: ENSMUSP00000106005 (fasta)

Gene Model

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

AlphaFold

Q6ZPR1

Predicted Effect

probably benign
Transcript: ENSMUST00000034048
AA Change: N525K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034048
Gene: ENSMUSG00000031631
AA Change: N525K

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 benign
Transcript: ENSMUST00000110376
AA Change: N525K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106005
Gene: ENSMUSG00000031631
AA Change: N525K

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

probably benign
Transcript: ENSMUST00000164504
AA Change: N525K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133211
Gene: ENSMUSG00000031631
AA Change: N525K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	C	T	3: 32,766,263 (GRCm39)	T39M	possibly damaging	Het
Arhgdib	T	C	6: 136,901,156 (GRCm39)	N191S	probably benign	Het
Arhgef39	A	G	4: 43,497,353 (GRCm39)		probably benign	Het
Baz1a	G	A	12: 54,947,233 (GRCm39)	R1139C	probably damaging	Het
Cdhr5	A	T	7: 140,852,752 (GRCm39)	I78N	probably damaging	Het
Cntn2	T	A	1: 132,455,481 (GRCm39)	Y252F	probably benign	Het
Cyp3a57	G	A	5: 145,286,207 (GRCm39)	G48S	probably damaging	Het
Cyp4v3	A	C	8: 45,781,260 (GRCm39)	F73V	possibly damaging	Het
Ear10	T	C	14: 44,160,404 (GRCm39)	D141G	probably benign	Het
Fbn2	T	C	18: 58,168,411 (GRCm39)	I2309V	probably damaging	Het
Fcrl5	A	G	3: 87,349,531 (GRCm39)	D102G	probably benign	Het
Fdxacb1	A	T	9: 50,683,879 (GRCm39)	Q614L	probably damaging	Het
Gm10267	T	C	18: 44,290,331 (GRCm39)	T59A	probably damaging	Het
Gm5581	C	T	6: 131,144,519 (GRCm39)		noncoding transcript	Het
Gm5592	G	T	7: 40,808,336 (GRCm39)		probably benign	Het
Gtf2a1l	A	G	17: 89,001,884 (GRCm39)	T200A	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ift122	T	C	6: 115,900,852 (GRCm39)	C1057R	probably damaging	Het
Kirrel3	A	T	9: 34,934,769 (GRCm39)	N73I	probably benign	Het
Kndc1	A	G	7: 139,490,798 (GRCm39)	I433M	probably benign	Het
Mks1	T	C	11: 87,747,530 (GRCm39)		probably benign	Het
Mmp14	A	T	14: 54,673,665 (GRCm39)	K110*	probably null	Het
Mms19	A	G	19: 41,933,992 (GRCm39)	L938P	probably damaging	Het
Mrpl36	A	T	13: 73,479,777 (GRCm39)		probably null	Het
Mypn	T	C	10: 62,966,961 (GRCm39)	E905G	probably damaging	Het
Ncam1	G	T	9: 49,468,472 (GRCm39)	T329N	probably damaging	Het
Nfkbie	T	C	17: 45,869,516 (GRCm39)	L157P	probably damaging	Het
Or14c45	T	A	7: 86,176,262 (GRCm39)	I99N	probably damaging	Het
Or4f47	T	A	2: 111,972,319 (GRCm39)	S10T	probably benign	Het
Pappa	C	T	4: 65,074,100 (GRCm39)	A218V	probably benign	Het
Plekhg5	T	C	4: 152,196,884 (GRCm39)	Y737H	probably benign	Het
Plod2	G	A	9: 92,485,041 (GRCm39)	R514Q	possibly damaging	Het
Plxnb1	C	T	9: 108,943,420 (GRCm39)	R1888W	probably damaging	Het
Prss45	A	G	9: 110,669,997 (GRCm39)	T269A	probably benign	Het
Ptpn13	A	G	5: 103,681,151 (GRCm39)	T784A	probably damaging	Het
Pycr3	T	C	15: 75,790,655 (GRCm39)	N68S	probably benign	Het
Rbis	T	C	3: 14,674,714 (GRCm39)	M1V	probably null	Het
Rdh14	A	T	12: 10,444,949 (GRCm39)	N267Y	probably benign	Het
Rph3a	G	A	5: 121,111,368 (GRCm39)	R71C	probably damaging	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Spata13	T	A	14: 60,928,523 (GRCm39)	V27E	probably damaging	Het
Tbc1d1	T	A	5: 64,417,771 (GRCm39)	S312T	probably damaging	Het
Tcp11l2	T	C	10: 84,440,937 (GRCm39)		probably null	Het
Trdn	C	T	10: 33,340,578 (GRCm39)	S604L	probably benign	Het
Ttn	T	C	2: 76,640,742 (GRCm39)	T13669A	probably benign	Het
Tyw3	A	T	3: 154,302,645 (GRCm39)	F30I	probably damaging	Het
Vmn1r227	G	T	17: 20,956,092 (GRCm39)		noncoding transcript	Het
Vmn2r74	C	T	7: 85,606,562 (GRCm39)	M261I	probably benign	Het
Zfp217	C	T	2: 169,956,707 (GRCm39)	G764S	probably benign	Het
Zfp267	A	G	3: 36,213,747 (GRCm39)	N27S	possibly damaging	Het
Zfp748	T	A	13: 67,689,202 (GRCm39)	H686L	probably damaging	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
IGL02327:Cfap97	APN	8	46,623,179 (GRCm39)	missense	probably damaging	1.00
IGL02457:Cfap97	APN	8	46,623,315 (GRCm39)	missense	possibly damaging	0.63
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

Predicted Primers

PCR Primer
(F):5'- CCAGTCTGGACTTAAAATTAGGC -3'
(R):5'- ACACTGATTTTACAGCAAGGTG -3'

Sequencing Primer
(F):5'- CAATGAACTTGATCAGATGAGGACC -3'
(R):5'- ACAGCAAGGTGTCTTTTGATAAC -3'

Posted On

2015-06-20