Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Cfap45'

651568

Institutional Source

Beutler Lab

Gene Symbol

Cfap45

Ensembl Gene

ENSMUSG00000026546

Gene Name

cilia and flagella associated protein 45

Synonyms

1700028D05Rik, Nesg1, Ccdc19

MMRRC Submission

046029-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172348697-172373437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172357501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 85 (D85G)

Ref Sequence

ENSEMBL: ENSMUSP00000083057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000159395] [ENSMUST00000159792] [ENSMUST00000161140] [ENSMUST00000162988]

AlphaFold

Q9D9U9

Predicted Effect

probably damaging
Transcript: ENSMUST00000085894
AA Change: D85G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: D85G

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:TPH	187	532	1.5e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159395
AA Change: D56G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125224
Gene: ENSMUSG00000026546
AA Change: D56G

Domain	Start	End	E-Value	Type
coiled coil region	128	162	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159792
AA Change: D56G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124540
Gene: ENSMUSG00000026546
AA Change: D56G

Domain	Start	End	E-Value	Type
coiled coil region	128	162	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161140
AA Change: D43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000162988
AA Change: D56G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.7480

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,324,635 (GRCm39)	T56M	probably damaging	Het
Adamtsl5	C	T	10: 80,181,372 (GRCm39)	S36N	probably benign	Het
Adgrf5	A	T	17: 43,750,704 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,354,210 (GRCm39)	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,063,865 (GRCm39)	D108G	possibly damaging	Het
Aopep	A	G	13: 63,208,954 (GRCm39)	D357G	probably benign	Het
Arhgef3	A	T	14: 27,123,743 (GRCm39)	D468V	probably benign	Het
Aspn	T	C	13: 49,705,353 (GRCm39)	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,792,485 (GRCm39)	T548A	possibly damaging	Het
Birc6	G	A	17: 74,906,368 (GRCm39)		probably null	Het
Btnl2	A	T	17: 34,577,249 (GRCm39)	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,865,282 (GRCm39)	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,463,024 (GRCm39)		probably null	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap54	T	A	10: 92,737,941 (GRCm39)	D2319V	unknown	Het
Cma1	T	C	14: 56,181,989 (GRCm39)	M14V	possibly damaging	Het
Cmtm1	T	C	8: 105,036,774 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,249,559 (GRCm39)	H1738R	unknown	Het
Colq	T	A	14: 31,275,794 (GRCm39)	D41V	probably damaging	Het
Cubn	T	C	2: 13,337,166 (GRCm39)	T2437A	probably benign	Het
Dnah14	A	G	1: 181,611,139 (GRCm39)	D3755G	probably damaging	Het
Eprs1	A	G	1: 185,150,545 (GRCm39)	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fbf1	T	C	11: 116,043,594 (GRCm39)	D405G	probably benign	Het
Fen1	C	T	19: 10,177,674 (GRCm39)	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,834,271 (GRCm39)	M198K	possibly damaging	Het
Hook3	A	T	8: 26,563,675 (GRCm39)	S190T	probably benign	Het
Htra4	A	C	8: 25,520,526 (GRCm39)		probably null	Het
Ighv1-15	T	C	12: 114,621,116 (GRCm39)	I70V	probably benign	Het
Ikzf4	T	A	10: 128,470,324 (GRCm39)	N452Y	probably damaging	Het
Insyn2a	T	G	7: 134,519,427 (GRCm39)	K368Q	probably damaging	Het
Iqcf5	T	A	9: 106,393,020 (GRCm39)	N92K	possibly damaging	Het
Itk	A	G	11: 46,246,661 (GRCm39)	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,690 (GRCm39)	S282P	probably benign	Het
Klhl18	T	A	9: 110,305,577 (GRCm39)	E29V	possibly damaging	Het
Ky	T	C	9: 102,402,614 (GRCm39)	S140P	probably damaging	Het
Lmntd2	T	C	7: 140,793,550 (GRCm39)	E112G	unknown	Het
Lrrc36	C	A	8: 106,178,718 (GRCm39)	D304E	possibly damaging	Het
Macf1	A	T	4: 123,400,273 (GRCm39)	F674Y	probably damaging	Het
Notch1	C	T	2: 26,361,013 (GRCm39)	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,107,941 (GRCm39)	N312K	possibly damaging	Het
Otogl	C	T	10: 107,731,637 (GRCm39)	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,645,934 (GRCm39)	T171P	probably benign	Het
Ppef2	A	T	5: 92,386,841 (GRCm39)	F365L	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Ryr1	G	A	7: 28,795,596 (GRCm39)	T1105I	probably benign	Het
Sclt1	T	A	3: 41,617,889 (GRCm39)	*29L	probably null	Het
Scn11a	T	C	9: 119,594,503 (GRCm39)	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,262 (GRCm39)	Y288F	probably benign	Het
Setd1a	T	A	7: 127,385,366 (GRCm39)	M691K	probably benign	Het
Sftpc	T	C	14: 70,760,059 (GRCm39)	E66G	probably damaging	Het
Spata31h1	T	C	10: 82,131,934 (GRCm39)	I359V	probably benign	Het
Thnsl2	T	C	6: 71,118,303 (GRCm39)	T42A	probably benign	Het
Tram1	T	C	1: 13,640,199 (GRCm39)	D285G	probably benign	Het
Ttn	G	A	2: 76,675,374 (GRCm39)	P11137L	unknown	Het
Ttn	C	A	2: 76,727,103 (GRCm39)	V5821F	unknown	Het
Ttn	A	T	2: 76,566,584 (GRCm39)	I28103K	probably damaging	Het
Usp38	T	A	8: 81,740,945 (GRCm39)	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,815,753 (GRCm39)	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,577,525 (GRCm39)	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,712,970 (GRCm39)	S103T	possibly damaging	Het

Other mutations in Cfap45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Cfap45	APN	1	172,362,912 (GRCm39)	unclassified	probably benign
IGL01936:Cfap45	APN	1	172,361,616 (GRCm39)	missense	probably damaging	1.00
IGL03235:Cfap45	APN	1	172,366,060 (GRCm39)	missense	possibly damaging	0.55
R0194:Cfap45	UTSW	1	172,368,894 (GRCm39)	missense	probably benign	0.05
R0883:Cfap45	UTSW	1	172,359,756 (GRCm39)	missense	possibly damaging	0.90
R1130:Cfap45	UTSW	1	172,373,264 (GRCm39)	missense	probably damaging	1.00
R1168:Cfap45	UTSW	1	172,373,264 (GRCm39)	missense	probably damaging	1.00
R1356:Cfap45	UTSW	1	172,355,430 (GRCm39)	missense	possibly damaging	0.53
R1522:Cfap45	UTSW	1	172,368,139 (GRCm39)	missense	probably damaging	1.00
R1921:Cfap45	UTSW	1	172,372,679 (GRCm39)	missense	probably damaging	1.00
R1922:Cfap45	UTSW	1	172,372,679 (GRCm39)	missense	probably damaging	1.00
R2203:Cfap45	UTSW	1	172,359,728 (GRCm39)	missense	probably benign	0.28
R2204:Cfap45	UTSW	1	172,359,728 (GRCm39)	missense	probably benign	0.28
R2205:Cfap45	UTSW	1	172,359,728 (GRCm39)	missense	probably benign	0.28
R3156:Cfap45	UTSW	1	172,373,291 (GRCm39)	missense	possibly damaging	0.93
R4059:Cfap45	UTSW	1	172,366,056 (GRCm39)	missense	probably benign	0.00
R4151:Cfap45	UTSW	1	172,359,788 (GRCm39)	missense	probably damaging	0.98
R4445:Cfap45	UTSW	1	172,362,794 (GRCm39)	missense	probably benign	0.07
R4548:Cfap45	UTSW	1	172,372,675 (GRCm39)	missense	probably benign	0.00
R4582:Cfap45	UTSW	1	172,357,479 (GRCm39)	missense	probably benign	0.42
R4909:Cfap45	UTSW	1	172,357,443 (GRCm39)	missense	probably benign	0.14
R5200:Cfap45	UTSW	1	172,372,696 (GRCm39)	nonsense	probably null
R5800:Cfap45	UTSW	1	172,366,167 (GRCm39)	missense	probably damaging	0.98
R6520:Cfap45	UTSW	1	172,368,151 (GRCm39)	missense	probably damaging	1.00
R6662:Cfap45	UTSW	1	172,357,417 (GRCm39)	missense	probably benign	0.01
R7378:Cfap45	UTSW	1	172,365,910 (GRCm39)	splice site	probably null
R7390:Cfap45	UTSW	1	172,368,925 (GRCm39)	missense	probably benign	0.00
R7468:Cfap45	UTSW	1	172,362,877 (GRCm39)	nonsense	probably null
R7545:Cfap45	UTSW	1	172,366,163 (GRCm39)	missense	probably benign
R8212:Cfap45	UTSW	1	172,369,067 (GRCm39)	splice site	probably null
R8272:Cfap45	UTSW	1	172,355,406 (GRCm39)	missense	possibly damaging	0.53
R8939:Cfap45	UTSW	1	172,372,834 (GRCm39)	missense	probably damaging	1.00
R9461:Cfap45	UTSW	1	172,362,894 (GRCm39)	missense	possibly damaging	0.92
Z1176:Cfap45	UTSW	1	172,372,851 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAAGCCTCAAGGTCCGTATTG -3'
(R):5'- ACGAAATCCAGTTTTGTGTACG -3'

Sequencing Primer
(F):5'- CCTCAAGGTCCGTATTGGGTCAG -3'
(R):5'- ATCCAGTTTTGTGTACGTTAAGC -3'

Posted On

2020-09-15