Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01935:Cfhr1'

180599

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfhr1

Ensembl Gene

ENSMUSG00000057037

Gene Name

complement factor H-related 1

Synonyms

Cfhl1

Accession Numbers

Essential gene?

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

Stock #

IGL01935

Quality Score

Status

Chromosome

Chromosomal Location

139474802-139487960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139478740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 210 (Y210F)

Ref Sequence

ENSEMBL: ENSMUSP00000023965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023965]

AlphaFold

Q61406

Predicted Effect

probably benign
Transcript: ENSMUST00000023965
AA Change: Y210F

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: Y210F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CCP	28	88	1.12e-4	SMART
CCP	92	145	3.48e-10	SMART
CCP	154	208	4.95e-15	SMART
CCP	215	269	3.5e-15	SMART
CCP	273	334	1.04e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000161224
AA Change: Y29F

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	C	T	6: 140,583,383 (GRCm39)		probably benign	Het
Akr1c12	A	T	13: 4,322,244 (GRCm39)	V266E	probably damaging	Het
Arhgef1	A	G	7: 24,621,307 (GRCm39)	T186A	probably damaging	Het
Atp8b5	A	G	4: 43,366,638 (GRCm39)	T801A	probably benign	Het
Card11	T	A	5: 140,869,301 (GRCm39)	I832F	possibly damaging	Het
Catsperg1	T	C	7: 28,895,296 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,906,889 (GRCm39)	T455A	possibly damaging	Het
Chrna5	T	C	9: 54,912,127 (GRCm39)	V309A	probably benign	Het
Clstn2	A	G	9: 97,345,521 (GRCm39)	V609A	probably damaging	Het
Dnah6	T	C	6: 73,037,126 (GRCm39)	D3372G	probably benign	Het
Dtymk	T	C	1: 93,722,465 (GRCm39)	K113E	probably benign	Het
Eef2k	T	C	7: 120,485,054 (GRCm39)	F307S	probably damaging	Het
Flnc	T	A	6: 29,454,279 (GRCm39)	V1864E	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Herc2	A	G	7: 55,803,541 (GRCm39)	Y2192C	probably benign	Het
Hkdc1	A	T	10: 62,236,165 (GRCm39)	V459E	probably damaging	Het
Iqsec3	T	C	6: 121,360,951 (GRCm39)	D969G	probably damaging	Het
Irf3	A	G	7: 44,650,194 (GRCm39)	T237A	probably benign	Het
Jade2	G	A	11: 51,719,211 (GRCm39)	T245I	possibly damaging	Het
Kctd8	A	G	5: 69,497,707 (GRCm39)	I313T	possibly damaging	Het
Kdm5a	T	A	6: 120,385,284 (GRCm39)	S835R	probably benign	Het
Lama2	A	C	10: 27,298,600 (GRCm39)	H165Q	probably damaging	Het
Lrp1b	T	A	2: 41,158,367 (GRCm39)	N1617Y	probably damaging	Het
Mcc	C	T	18: 44,652,583 (GRCm39)		probably null	Het
Mfsd14b	T	A	13: 65,215,739 (GRCm39)	M405L	probably benign	Het
Myom3	T	A	4: 135,515,692 (GRCm39)	F794I	probably damaging	Het
Napsa	G	T	7: 44,236,046 (GRCm39)	A362S	probably benign	Het
Ncf4	A	T	15: 78,140,186 (GRCm39)	D195V	probably damaging	Het
Or11g1	T	C	14: 50,651,012 (GRCm39)	F4L	probably benign	Het
Pank4	T	G	4: 155,063,987 (GRCm39)	D659E	probably damaging	Het
Pcnx1	T	A	12: 81,964,590 (GRCm39)	D252E	probably benign	Het
Pglyrp2	G	A	17: 32,637,551 (GRCm39)	A159V	probably benign	Het
Phaf1	T	C	8: 105,966,633 (GRCm39)	F127L	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,674 (GRCm39)	S627P	probably benign	Het
Ppp1r15b	T	C	1: 133,059,761 (GRCm39)	F93L	probably benign	Het
Pramel13	C	T	4: 144,119,172 (GRCm39)		probably benign	Het
Qrfpr	A	T	3: 36,235,200 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,064,467 (GRCm39)	T623K	probably benign	Het
Rapgef6	A	G	11: 54,501,668 (GRCm39)	T184A	possibly damaging	Het
Ssrp1	T	C	2: 84,877,056 (GRCm39)	*709Q	probably null	Het
St7	T	G	6: 17,930,822 (GRCm39)	I442S	probably damaging	Het
Syne2	T	A	12: 75,972,087 (GRCm39)	H992Q	probably damaging	Het
Syt14	T	C	1: 192,615,679 (GRCm39)	R436G	probably damaging	Het
Tbc1d5	A	G	17: 51,270,793 (GRCm39)		probably benign	Het
Thsd7a	T	A	6: 12,317,418 (GRCm39)	N1630I	probably damaging	Het
Tinagl1	T	C	4: 130,061,794 (GRCm39)	K180R	probably damaging	Het
Tmed7	T	C	18: 46,730,190 (GRCm39)	T54A	probably benign	Het
Tmprss2	A	T	16: 97,379,795 (GRCm39)	Y48*	probably null	Het
Tns2	C	T	15: 102,020,069 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,960,577 (GRCm39)	M496V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zbtb39	A	G	10: 127,578,235 (GRCm39)	T270A	probably benign	Het
Zfr	T	C	15: 12,180,798 (GRCm39)	S976P	probably benign	Het
Zscan29	A	G	2: 121,000,538 (GRCm39)	F23S	probably damaging	Het

Other mutations in Cfhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Cfhr1	APN	1	139,484,253 (GRCm39)	unclassified	probably benign
IGL00656:Cfhr1	APN	1	139,475,493 (GRCm39)	unclassified	probably benign
IGL01099:Cfhr1	APN	1	139,475,497 (GRCm39)	unclassified	probably benign
IGL01101:Cfhr1	APN	1	139,481,322 (GRCm39)	missense	probably benign	0.11
IGL01617:Cfhr1	APN	1	139,481,417 (GRCm39)	nonsense	probably null
IGL01732:Cfhr1	APN	1	139,478,606 (GRCm39)	missense	probably benign	0.02
IGL02368:Cfhr1	APN	1	139,475,551 (GRCm39)	unclassified	probably benign
IGL02456:Cfhr1	APN	1	139,484,131 (GRCm39)	missense	possibly damaging	0.88
IGL03105:Cfhr1	APN	1	139,475,565 (GRCm39)	unclassified	probably benign
R0681:Cfhr1	UTSW	1	139,485,249 (GRCm39)	missense	probably damaging	0.99
R1466:Cfhr1	UTSW	1	139,485,312 (GRCm39)	missense	probably benign	0.17
R1466:Cfhr1	UTSW	1	139,485,312 (GRCm39)	missense	probably benign	0.17
R1829:Cfhr1	UTSW	1	139,481,338 (GRCm39)	missense	probably damaging	1.00
R2082:Cfhr1	UTSW	1	139,478,624 (GRCm39)	missense	possibly damaging	0.72
R2118:Cfhr1	UTSW	1	139,478,642 (GRCm39)	missense	probably benign	0.01
R3747:Cfhr1	UTSW	1	139,485,372 (GRCm39)	critical splice acceptor site	probably null
R3748:Cfhr1	UTSW	1	139,485,372 (GRCm39)	critical splice acceptor site	probably null
R3749:Cfhr1	UTSW	1	139,485,372 (GRCm39)	critical splice acceptor site	probably null
R4208:Cfhr1	UTSW	1	139,475,616 (GRCm39)	unclassified	probably benign
R4566:Cfhr1	UTSW	1	139,481,386 (GRCm39)	missense	possibly damaging	0.82
R4681:Cfhr1	UTSW	1	139,478,667 (GRCm39)	nonsense	probably null
R4839:Cfhr1	UTSW	1	139,487,871 (GRCm39)	missense	probably damaging	1.00
R5208:Cfhr1	UTSW	1	139,484,068 (GRCm39)	critical splice donor site	probably null
R5572:Cfhr1	UTSW	1	139,484,165 (GRCm39)	missense	possibly damaging	0.78
R6043:Cfhr1	UTSW	1	139,478,606 (GRCm39)	missense	probably benign	0.01
R6176:Cfhr1	UTSW	1	139,478,654 (GRCm39)	missense	probably damaging	1.00
R7643:Cfhr1	UTSW	1	139,481,323 (GRCm39)	missense	possibly damaging	0.47
R7689:Cfhr1	UTSW	1	139,475,478 (GRCm39)	missense	unknown
R7852:Cfhr1	UTSW	1	139,484,165 (GRCm39)	missense	probably damaging	0.98
R8120:Cfhr1	UTSW	1	139,475,583 (GRCm39)	missense	unknown
R8376:Cfhr1	UTSW	1	139,475,549 (GRCm39)	missense	unknown
R8433:Cfhr1	UTSW	1	139,485,276 (GRCm39)	missense	probably damaging	1.00
R9339:Cfhr1	UTSW	1	139,485,293 (GRCm39)	missense	probably benign	0.00
R9409:Cfhr1	UTSW	1	139,478,704 (GRCm39)	missense	probably benign	0.02
R9755:Cfhr1	UTSW	1	139,487,889 (GRCm39)	missense	probably benign	0.26

Posted On

2014-05-07