Mutagenetix > Incidental Mutation

Incidental Mutation 'R1802:Cfap97d1'

203229

Institutional Source

Beutler Lab

Gene Symbol

Cfap97d1

Ensembl Gene

ENSMUSG00000010841

Gene Name

CFAP97 domain containing 1

Synonyms

1700006E09Rik

MMRRC Submission

039832-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1802 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101877882-101883090 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101879302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 25 (Y25N)

Ref Sequence

ENSEMBL: ENSMUSP00000134890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003612] [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000143177] [ENSMUST00000151678] [ENSMUST00000175972] [ENSMUST00000176722] [ENSMUST00000176261]

AlphaFold

Q9DAN9

Predicted Effect

probably benign
Transcript: ENSMUST00000003612

SMART Domains

Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	29	176	8.04e-58	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010985
AA Change: Y76N

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: Y76N

Domain	Start	End	E-Value	Type
Pfam:KIAA1430	35	130	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107172

SMART Domains

Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	29	176	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107173

SMART Domains

Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	54	201	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143177

SMART Domains

Protein: ENSMUSP00000135821
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
PDB:1J4X\|A	2	55	1e-22	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000151678

SMART Domains

Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	3	108	6.99e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175972

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176722
AA Change: Y25N

PolyPhen 2 Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: Y25N

Domain	Start	End	E-Value	Type
Pfam:KIAA1430	1	80	4.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176261

SMART Domains

Protein: ENSMUSP00000135443
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
Pfam:DSPc	37	126	1.5e-13	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	T	15: 91,047,305 (GRCm39)	R583S	probably benign	Het
Ago2	A	T	15: 72,993,029 (GRCm39)	F492Y	probably damaging	Het
Ano4	T	A	10: 88,816,878 (GRCm39)	D610V	probably damaging	Het
Atp6v0d2	A	G	4: 19,922,366 (GRCm39)		probably null	Het
Atxn7	T	G	14: 14,089,419 (GRCm38)	S312A	probably benign	Het
Azgp1	A	G	5: 137,983,493 (GRCm39)	Y56C	probably damaging	Het
Bcan	A	G	3: 87,900,415 (GRCm39)	V606A	possibly damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
Ccdc63	T	C	5: 122,267,940 (GRCm39)	R9G	probably damaging	Het
Cdyl	T	A	13: 36,056,619 (GRCm39)	L534*	probably null	Het
Celf2	T	C	2: 6,554,744 (GRCm39)	E445G	probably damaging	Het
Cimap3	T	A	3: 105,921,866 (GRCm39)	Q19L	possibly damaging	Het
Cnot8	T	C	11: 58,008,361 (GRCm39)	C276R	probably benign	Het
Dock4	A	G	12: 40,844,597 (GRCm39)	I1135V	possibly damaging	Het
Edc3	A	G	9: 57,634,598 (GRCm39)	D205G	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Fancl	T	G	11: 26,409,709 (GRCm39)	S188R	probably benign	Het
Fbn2	T	A	18: 58,186,048 (GRCm39)	K1767*	probably null	Het
Glrb	A	T	3: 80,769,264 (GRCm39)	H154Q	probably damaging	Het
Gm19965	C	T	1: 116,748,633 (GRCm39)	R105*	probably null	Het
Grhpr	C	A	4: 44,988,950 (GRCm39)	Y202*	probably null	Het
Herc2	A	G	7: 55,834,080 (GRCm39)	E3095G	probably damaging	Het
Il22ra2	A	T	10: 19,502,447 (GRCm39)	N89Y	probably damaging	Het
Itgb6	T	C	2: 60,483,625 (GRCm39)	D261G	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kif1a	T	A	1: 92,993,871 (GRCm39)	I360F	probably damaging	Het
Kmt2d	T	C	15: 98,760,866 (GRCm39)	Q828R	unknown	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mios	T	A	6: 8,216,385 (GRCm39)	Y436*	probably null	Het
Mprip	C	T	11: 59,645,867 (GRCm39)	L684F	probably damaging	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Naga	C	T	15: 82,221,669 (GRCm39)	R24Q	probably benign	Het
Nr2c1	G	A	10: 93,999,648 (GRCm39)	V103M	possibly damaging	Het
Oca2	A	G	7: 55,904,728 (GRCm39)	S65G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or52ab7	A	G	7: 102,977,854 (GRCm39)	I54V	probably benign	Het
Phyhipl	A	T	10: 70,434,855 (GRCm39)	I28N	probably benign	Het
Pik3cb	C	A	9: 98,983,342 (GRCm39)	E89*	probably null	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Ppm1a	T	A	12: 72,840,481 (GRCm39)		probably null	Het
Relt	T	C	7: 100,499,401 (GRCm39)	I173V	probably damaging	Het
Rfx7	T	A	9: 72,526,919 (GRCm39)	S1370T	possibly damaging	Het
Rps7	G	A	12: 28,684,258 (GRCm39)	R81C	probably benign	Het
Saa3	T	C	7: 46,361,550 (GRCm39)	*123W	probably null	Het
Serpina3b	C	A	12: 104,104,896 (GRCm39)	H357Q	probably damaging	Het
Slc9c1	T	A	16: 45,378,644 (GRCm39)	N493K	probably benign	Het
Spata31	T	C	13: 65,070,197 (GRCm39)	Y782H	probably benign	Het
Tfap2a	T	C	13: 40,878,646 (GRCm39)	D166G	probably damaging	Het
Thada	A	T	17: 84,771,835 (GRCm39)	M9K	probably benign	Het
Tmem269	A	T	4: 119,068,070 (GRCm39)		probably null	Het
Tnxb	C	A	17: 34,922,863 (GRCm39)	P2482Q	probably damaging	Het
Vit	T	C	17: 78,912,940 (GRCm39)	V291A	possibly damaging	Het
Zfp930	G	T	8: 69,679,046 (GRCm39)	A18S	possibly damaging	Het
Zup1	A	T	10: 33,819,714 (GRCm39)	V200D	probably damaging	Het

Other mutations in Cfap97d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Cfap97d1	APN	11	101,881,646 (GRCm39)	missense	possibly damaging	0.75
IGL02442:Cfap97d1	APN	11	101,881,652 (GRCm39)	missense	probably benign	0.00
R1937:Cfap97d1	UTSW	11	101,877,989 (GRCm39)	missense	probably damaging	0.97
R2015:Cfap97d1	UTSW	11	101,878,044 (GRCm39)	missense	probably damaging	1.00
R3732:Cfap97d1	UTSW	11	101,879,278 (GRCm39)	nonsense	probably null
R3732:Cfap97d1	UTSW	11	101,879,278 (GRCm39)	nonsense	probably null
R3733:Cfap97d1	UTSW	11	101,879,278 (GRCm39)	nonsense	probably null
R3813:Cfap97d1	UTSW	11	101,882,314 (GRCm39)	missense	probably benign	0.01
R5804:Cfap97d1	UTSW	11	101,881,640 (GRCm39)	missense	probably damaging	1.00
R7351:Cfap97d1	UTSW	11	101,882,331 (GRCm39)	missense	probably benign	0.01
R7451:Cfap97d1	UTSW	11	101,882,283 (GRCm39)	missense	possibly damaging	0.85
R8546:Cfap97d1	UTSW	11	101,881,687 (GRCm39)	missense	probably damaging	1.00
R9391:Cfap97d1	UTSW	11	101,881,655 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCTTAAGCTCTGTCTGGGC -3'
(R):5'- ATAGCAAGGTCTCTCGCTTCTC -3'

Sequencing Primer
(F):5'- AAGCTCTGTCTGGGCTCCAC -3'
(R):5'- TTGAGTATACCTCTCTCAATCAAACC -3'

Posted On

2014-06-23