Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02010:Cfap20dc'

183341

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap20dc

Ensembl Gene

ENSMUSG00000021747

Gene Name

CFAP20 domain containing

Synonyms

4930452B06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02010

Quality Score

Status

Chromosome

Chromosomal Location

13803533-14038581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8578384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 119 (H119Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102996]

AlphaFold

Q6P2K3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102996
AA Change: H119Q

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100061
Gene: ENSMUSG00000021747
AA Change: H119Q

Domain	Start	End	E-Value	Type
Pfam:DUF667	1	188	1.7e-43	PFAM
low complexity region	344	358	N/A	INTRINSIC
low complexity region	506	519	N/A	INTRINSIC
low complexity region	568	578	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC
low complexity region	639	650	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225744

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,110,442 (GRCm39)	D569G	probably benign	Het
Abhd17b	C	T	19: 21,661,485 (GRCm39)	T224I	probably benign	Het
Atf6b	T	A	17: 34,873,626 (GRCm39)	S695R	probably benign	Het
Cdh6	A	C	15: 13,034,276 (GRCm39)		probably benign	Het
Cep290	G	T	10: 100,344,569 (GRCm39)	C462F	probably benign	Het
Cep290	T	C	10: 100,397,207 (GRCm39)	S2156P	probably benign	Het
Cit	T	C	5: 116,014,006 (GRCm39)	F240L	probably damaging	Het
Col1a2	T	A	6: 4,512,416 (GRCm39)		probably null	Het
Ctcf	T	A	8: 106,391,597 (GRCm39)	H297Q	probably damaging	Het
Dhx29	T	C	13: 113,103,168 (GRCm39)		probably null	Het
Dhx37	T	G	5: 125,495,777 (GRCm39)	T835P	possibly damaging	Het
Enc1	C	T	13: 97,381,588 (GRCm39)	L33F	possibly damaging	Het
Epyc	T	A	10: 97,485,563 (GRCm39)	M1K	probably null	Het
F10	T	C	8: 13,098,292 (GRCm39)	I165T	probably damaging	Het
Fam124a	T	C	14: 62,824,728 (GRCm39)	L74P	probably damaging	Het
Fam234b	A	G	6: 135,186,405 (GRCm39)	S138G	probably benign	Het
Fam81a	T	C	9: 70,006,419 (GRCm39)	K198E	probably benign	Het
Fbn2	T	C	18: 58,170,794 (GRCm39)	Y2199C	probably damaging	Het
Fign	A	C	2: 63,810,744 (GRCm39)	S175R	probably damaging	Het
Grik1	T	C	16: 87,848,396 (GRCm39)	N124S	possibly damaging	Het
Hdac9	G	T	12: 34,481,944 (GRCm39)	L175M	probably damaging	Het
Hephl1	A	C	9: 15,001,852 (GRCm39)	Y163*	probably null	Het
Hes1	G	A	16: 29,886,128 (GRCm39)	G244D	probably damaging	Het
Hexb	A	G	13: 97,313,353 (GRCm39)	L501P	probably benign	Het
Igkv5-43	T	C	6: 69,752,936 (GRCm39)	I49V	probably benign	Het
Ipo5	T	C	14: 121,170,789 (GRCm39)	S491P	probably benign	Het
Jakmip2	C	T	18: 43,692,158 (GRCm39)		probably null	Het
Lrfn5	A	G	12: 61,886,469 (GRCm39)	T86A	probably damaging	Het
Lrp1b	T	C	2: 41,358,954 (GRCm39)	T640A	probably damaging	Het
M6pr	G	T	6: 122,292,085 (GRCm39)	R139L	possibly damaging	Het
Myl9	A	T	2: 156,620,579 (GRCm39)	N39Y	probably damaging	Het
Nlrp3	A	G	11: 59,440,361 (GRCm39)	D646G	probably benign	Het
Nlrp5	A	T	7: 23,116,797 (GRCm39)	M174L	probably benign	Het
Nnmt	T	A	9: 48,503,331 (GRCm39)	I232F	probably damaging	Het
Nrg1	T	C	8: 32,408,171 (GRCm39)	T21A	probably benign	Het
Or5t15	C	T	2: 86,681,541 (GRCm39)	C167Y	possibly damaging	Het
Or6c65	A	G	10: 129,604,136 (GRCm39)	Y257C	probably benign	Het
Pcare	T	A	17: 72,056,459 (GRCm39)	T1073S	probably benign	Het
Pcdh7	T	G	5: 58,286,597 (GRCm39)	N1224K	probably benign	Het
Pde4a	T	C	9: 21,114,850 (GRCm39)		probably null	Het
Pfkfb3	T	C	2: 11,488,805 (GRCm39)	T320A	probably benign	Het
Plekhm2	T	C	4: 141,364,730 (GRCm39)		probably benign	Het
Rabgap1l	C	T	1: 160,299,641 (GRCm39)	R584H	probably damaging	Het
Rnf157	T	A	11: 116,287,052 (GRCm39)	N57I	probably damaging	Het
Rtf1	G	A	2: 119,531,747 (GRCm39)		probably null	Het
Sap130	C	A	18: 31,782,655 (GRCm39)	R189S	probably damaging	Het
Slc34a1	T	G	13: 24,003,025 (GRCm39)	V225G	probably benign	Het
Smg1	T	C	7: 117,785,369 (GRCm39)		probably benign	Het
Tecta	G	A	9: 42,248,489 (GRCm39)	T1971I	probably damaging	Het
Tlcd5	A	T	9: 43,022,859 (GRCm39)	V165E	probably damaging	Het
Tmem263	T	A	10: 84,950,274 (GRCm39)	S22T	probably benign	Het
Tnrc18	A	T	5: 142,773,049 (GRCm39)	F410L	unknown	Het
Ttc27	T	G	17: 75,087,906 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,668 (GRCm39)	C101S	probably damaging	Het
Wdr17	T	C	8: 55,112,738 (GRCm39)	K781E	probably damaging	Het
Xkr6	C	T	14: 64,056,653 (GRCm39)	T188M	probably benign	Het

Other mutations in Cfap20dc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Cfap20dc	APN	14	8,473,370 (GRCm38)	missense	possibly damaging	0.57
IGL02385:Cfap20dc	APN	14	8,510,920 (GRCm38)	missense	possibly damaging	0.59
IGL02431:Cfap20dc	APN	14	8,659,424 (GRCm38)	missense	probably damaging	1.00
IGL02723:Cfap20dc	APN	14	8,516,507 (GRCm38)	missense	probably benign	0.02
IGL02865:Cfap20dc	APN	14	8,517,940 (GRCm38)	missense	probably benign	0.00
IGL03030:Cfap20dc	APN	14	8,511,113 (GRCm38)	missense	probably damaging	1.00
IGL03204:Cfap20dc	APN	14	8,644,436 (GRCm38)	missense	possibly damaging	0.68
IGL03014:Cfap20dc	UTSW	14	8,431,608 (GRCm38)	makesense	probably null
R0197:Cfap20dc	UTSW	14	8,518,695 (GRCm38)	missense	probably damaging	1.00
R0265:Cfap20dc	UTSW	14	8,431,667 (GRCm38)	missense	probably damaging	1.00
R0513:Cfap20dc	UTSW	14	8,536,609 (GRCm38)	missense	probably damaging	1.00
R0647:Cfap20dc	UTSW	14	8,536,655 (GRCm38)	missense	possibly damaging	0.94
R1168:Cfap20dc	UTSW	14	8,442,939 (GRCm38)	missense	probably benign	0.22
R1610:Cfap20dc	UTSW	14	8,511,110 (GRCm38)	missense	probably benign	0.00
R1625:Cfap20dc	UTSW	14	8,431,668 (GRCm38)	missense	probably damaging	1.00
R2010:Cfap20dc	UTSW	14	8,511,021 (GRCm38)	missense	probably damaging	1.00
R2084:Cfap20dc	UTSW	14	8,558,171 (GRCm38)	missense	probably damaging	1.00
R2174:Cfap20dc	UTSW	14	8,558,109 (GRCm38)	missense	probably benign	0.02
R3802:Cfap20dc	UTSW	14	8,510,931 (GRCm38)	missense	probably benign	0.00
R4244:Cfap20dc	UTSW	14	8,482,521 (GRCm38)	missense	probably benign	0.00
R4471:Cfap20dc	UTSW	14	8,536,571 (GRCm38)	missense	probably damaging	1.00
R4516:Cfap20dc	UTSW	14	8,536,609 (GRCm38)	missense	probably damaging	1.00
R4824:Cfap20dc	UTSW	14	8,665,997 (GRCm38)	start codon destroyed	probably null	0.93
R4884:Cfap20dc	UTSW	14	8,578,394 (GRCm38)	missense	probably damaging	0.97
R4975:Cfap20dc	UTSW	14	8,518,736 (GRCm38)	missense	probably benign	0.00
R5455:Cfap20dc	UTSW	14	8,536,516 (GRCm38)	critical splice donor site	probably null
R6280:Cfap20dc	UTSW	14	8,473,414 (GRCm38)	critical splice acceptor site	probably null
R6438:Cfap20dc	UTSW	14	8,431,701 (GRCm38)	missense	probably damaging	0.98
R6639:Cfap20dc	UTSW	14	8,536,530 (GRCm38)	missense	probably benign	0.12
R7101:Cfap20dc	UTSW	14	8,511,171 (GRCm38)	missense	possibly damaging	0.75
R7456:Cfap20dc	UTSW	14	8,442,933 (GRCm38)	nonsense	probably null
R8266:Cfap20dc	UTSW	14	8,482,599 (GRCm38)	nonsense	probably null
R8854:Cfap20dc	UTSW	14	8,518,638 (GRCm38)	missense	probably damaging	1.00
R9053:Cfap20dc	UTSW	14	8,518,768 (GRCm38)	critical splice acceptor site	probably null
R9157:Cfap20dc	UTSW	14	8,518,635 (GRCm38)	missense	probably benign	0.00
R9294:Cfap20dc	UTSW	14	8,578,361 (GRCm38)	missense	possibly damaging	0.84
R9313:Cfap20dc	UTSW	14	8,518,635 (GRCm38)	missense	probably benign	0.00
R9502:Cfap20dc	UTSW	14	8,659,452 (GRCm38)	missense	probably damaging	0.98
Z1177:Cfap20dc	UTSW	14	8,517,953 (GRCm38)	nonsense	probably null

Posted On

2014-05-07