Mutagenetix > Incidental Mutation

Incidental Mutation 'R2205:Cfap45'

238943

Institutional Source

Beutler Lab

Gene Symbol

Cfap45

Ensembl Gene

ENSMUSG00000026546

Gene Name

cilia and flagella associated protein 45

Synonyms

1700028D05Rik, Nesg1, Ccdc19

MMRRC Submission

040207-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R2205 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172348697-172373437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172359728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 76 (V76A)

Ref Sequence

ENSEMBL: ENSMUSP00000125225 (fasta)

Gene Model

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

AlphaFold

Q9D9U9

Predicted Effect

probably benign
Transcript: ENSMUST00000085894
AA Change: V118A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: V118A

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 benign
Transcript: ENSMUST00000159395
AA Change: V89A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125224
Gene: ENSMUSG00000026546
AA Change: V89A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159792
AA Change: V89A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124540
Gene: ENSMUSG00000026546
AA Change: V89A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160531

Predicted Effect

probably benign
Transcript: ENSMUST00000161140
AA Change: V76A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000162988
AA Change: V89A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca14	T	C	7: 119,846,503 (GRCm39)	S652P	probably damaging	Het
Acsl6	G	A	11: 54,214,833 (GRCm39)	G75S	probably damaging	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
Aknad1	A	G	3: 108,664,609 (GRCm39)	D406G	probably damaging	Het
Albfm1	A	G	5: 90,717,421 (GRCm39)	T201A	possibly damaging	Het
Ankrd2	C	A	19: 42,032,558 (GRCm39)	A273E	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Arhgap35	A	T	7: 16,231,950 (GRCm39)		probably null	Het
Bag6	G	A	17: 35,363,583 (GRCm39)	G751R	probably damaging	Het
Brat1	G	A	5: 140,690,888 (GRCm39)		probably benign	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Catsperg1	G	A	7: 28,884,671 (GRCm39)	Q922*	probably null	Het
Cfap221	T	G	1: 119,863,834 (GRCm39)	Y570S	possibly damaging	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cpd	A	G	11: 76,693,070 (GRCm39)	Y739H	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dhrs7	A	T	12: 72,703,144 (GRCm39)	V188E	probably damaging	Het
Dpp9	A	C	17: 56,506,287 (GRCm39)	I411S	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fitm2	G	A	2: 163,314,516 (GRCm39)		probably benign	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpatch1	C	A	7: 34,991,197 (GRCm39)	D616Y	probably damaging	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Hoxb3	T	A	11: 96,236,494 (GRCm39)	S191T	probably benign	Het
Ifit1bl1	C	T	19: 34,571,741 (GRCm39)	E239K	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Megf8	C	T	7: 25,041,173 (GRCm39)	T1134I	probably benign	Het
Mtrex	T	C	13: 113,035,424 (GRCm39)	I510V	probably benign	Het
Nipsnap1	C	A	11: 4,839,974 (GRCm39)	H232N	possibly damaging	Het
Nme4	A	T	17: 26,311,114 (GRCm39)	H150Q	possibly damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
P2rx7	T	A	5: 122,819,164 (GRCm39)	Y529N	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pofut1	T	A	2: 153,103,167 (GRCm39)	M267K	probably damaging	Het
Rad54l2	T	C	9: 106,594,997 (GRCm39)	D320G	probably damaging	Het
Rdm1	C	A	11: 101,525,629 (GRCm39)	A225E	probably damaging	Het
Samm50	G	A	15: 84,086,515 (GRCm39)	A245T	probably benign	Het
Scfd2	A	T	5: 74,386,028 (GRCm39)	M597K	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Ssh3	A	G	19: 4,319,101 (GRCm39)	L3P	probably damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Tbc1d31	A	G	15: 57,816,916 (GRCm39)	D717G	probably benign	Het
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tma7	C	A	9: 108,911,294 (GRCm39)		probably benign	Het
Tmc1	A	T	19: 20,918,269 (GRCm39)	L2M	probably benign	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Tns3	T	C	11: 8,481,719 (GRCm39)	Y211C	probably damaging	Het
Ttc21b	C	T	2: 66,065,467 (GRCm39)	G436S	possibly damaging	Het
Ttn	T	C	2: 76,681,907 (GRCm39)		probably benign	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Usp34	A	G	11: 23,335,147 (GRCm39)	T1210A	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Wdr62	T	A	7: 29,957,574 (GRCm39)		probably null	Het
Ywhah	A	G	5: 33,184,484 (GRCm39)	N229S	probably damaging	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfyve27	C	A	19: 42,171,885 (GRCm39)	A139D	probably damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly damaging	Het
Zswim4	G	T	8: 84,952,498 (GRCm39)	T488N	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
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
R7988:Cfap45	UTSW	1	172,357,501 (GRCm39)	missense	probably damaging	1.00
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'- GGTTGCTTCTCACCTGAAACC -3'
(R):5'- TTTTAGCATGCCTTAACTGAGC -3'

Sequencing Primer
(F):5'- CAAGTGGCCCATGAATTTGC -3'
(R):5'- AACTGAGCTTATCCTGCCTGGG -3'

Posted On

2014-10-02