Mutagenetix > Incidental Mutation

Incidental Mutation 'R2082:Cfhr1'

230054

Institutional Source

Beutler Lab

Gene Symbol

Cfhr1

Ensembl Gene

ENSMUSG00000057037

Gene Name

complement factor H-related 1

Synonyms

Cfhl1

MMRRC Submission

040087-MU

Accession Numbers

Essential gene?

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

Stock #

R2082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139474802-139487960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139478624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 249 (V249I)

Ref Sequence

ENSEMBL: ENSMUSP00000023965 (fasta)

Gene Model

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

AlphaFold

Q61406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023965
AA Change: V249I

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: V249I

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: V68I

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,686,391 (GRCm39)		probably null	Het
4933427I04Rik	A	G	4: 123,754,769 (GRCm39)	I228V	probably benign	Het
Aco2	T	C	15: 81,797,896 (GRCm39)	W657R	possibly damaging	Het
Acsm2	T	A	7: 119,179,857 (GRCm39)	H333Q	probably benign	Het
Adamts18	C	T	8: 114,501,965 (GRCm39)	V299I	probably damaging	Het
Adat2	G	A	10: 13,435,907 (GRCm39)	C84Y	probably damaging	Het
Arhgef11	C	T	3: 87,633,303 (GRCm39)	T690I	possibly damaging	Het
Cachd1	A	G	4: 100,860,155 (GRCm39)	D1242G	probably damaging	Het
Casp14	A	G	10: 78,550,867 (GRCm39)	M106T	probably benign	Het
Ccdc69	T	A	11: 54,943,215 (GRCm39)	I130F	probably damaging	Het
Cdk9	A	G	2: 32,599,513 (GRCm39)	L189P	probably damaging	Het
Chst1	T	C	2: 92,444,335 (GRCm39)	V269A	possibly damaging	Het
Col18a1	G	T	10: 76,895,127 (GRCm39)	P1178Q	probably damaging	Het
Col6a1	A	G	10: 76,545,430 (GRCm39)	L1014P	probably damaging	Het
Crisp3	T	C	17: 40,536,751 (GRCm39)	Y188C	probably damaging	Het
Dse	G	A	10: 34,031,936 (GRCm39)	R363C	probably damaging	Het
Exoc5	T	C	14: 49,253,044 (GRCm39)	I525V	probably benign	Het
Fech	A	T	18: 64,591,260 (GRCm39)	I388N	probably damaging	Het
Fmnl1	T	C	11: 103,082,851 (GRCm39)	L363P	probably damaging	Het
Gm10842	T	A	11: 105,037,909 (GRCm39)	L64Q	unknown	Het
Gm8225	C	A	17: 26,762,670 (GRCm39)	P287Q	possibly damaging	Het
Hsp90aa1	A	T	12: 110,659,261 (GRCm39)	L512H	probably damaging	Het
Ifi30	T	C	8: 71,216,373 (GRCm39)		probably benign	Het
Iqsec1	A	T	6: 90,671,556 (GRCm39)	D115E	probably damaging	Het
Kcnu1	T	A	8: 26,411,577 (GRCm39)	L174H	probably damaging	Het
Krt10	A	G	11: 99,279,701 (GRCm39)	V153A	probably damaging	Het
Krt18	G	A	15: 101,939,455 (GRCm39)		probably null	Het
Micu1	A	G	10: 59,699,129 (GRCm39)	T469A	probably benign	Het
Mtss2	T	C	8: 111,452,889 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,786,079 (GRCm39)	F1253L	probably damaging	Het
N4bp2	A	T	5: 65,964,908 (GRCm39)	T986S	probably damaging	Het
Naip6	C	A	13: 100,440,852 (GRCm39)		probably null	Het
Nphp4	G	A	4: 152,643,821 (GRCm39)	V1117M	probably benign	Het
Oca2	C	A	7: 55,946,885 (GRCm39)	Q305K	probably benign	Het
Or56b34	C	T	7: 104,937,710 (GRCm39)	Q137*	probably null	Het
Or5k3	T	A	16: 58,969,248 (GRCm39)	F12I	probably damaging	Het
Or7g27	G	A	9: 19,250,574 (GRCm39)	V273I	probably benign	Het
P2rx7	A	T	5: 122,782,158 (GRCm39)	N8Y	possibly damaging	Het
Pag1	A	T	3: 9,764,545 (GRCm39)	S203T	probably damaging	Het
Pfn4	T	A	12: 4,825,439 (GRCm39)		probably null	Het
Pip4k2c	T	C	10: 127,034,958 (GRCm39)	D414G	probably damaging	Het
Pkp1	T	G	1: 135,812,714 (GRCm39)	Q329P	possibly damaging	Het
Polrmt	A	T	10: 79,579,346 (GRCm39)	I135N	probably benign	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Ppp3cb	T	C	14: 20,558,746 (GRCm39)	T439A	possibly damaging	Het
Prkdc	A	G	16: 15,533,827 (GRCm39)	Y1555C	probably damaging	Het
Ptprh	T	C	7: 4,553,774 (GRCm39)	D859G	probably damaging	Het
Sema5a	T	A	15: 32,619,002 (GRCm39)	M510K	probably benign	Het
Slc22a16	A	G	10: 40,461,335 (GRCm39)	E379G	probably benign	Het
Slc30a5	C	A	13: 100,943,041 (GRCm39)		probably null	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tbc1d9	A	T	8: 83,997,616 (GRCm39)	S1058C	probably damaging	Het
Tet2	A	G	3: 133,191,488 (GRCm39)	L982P	possibly damaging	Het
Tmem101	G	T	11: 102,044,203 (GRCm39)	T228K	probably benign	Het
Tshz2	G	T	2: 169,728,135 (GRCm39)	K441N	probably damaging	Het
Upf1	A	T	8: 70,794,222 (GRCm39)	I228N	probably damaging	Het
Usp32	A	T	11: 84,921,338 (GRCm39)	I692N	probably damaging	Het
Vmn2r117	A	G	17: 23,679,230 (GRCm39)	S665P	possibly damaging	Het
Vps13b	T	C	15: 35,910,892 (GRCm39)	V3552A	possibly damaging	Het
Vps35	A	T	8: 85,990,094 (GRCm39)	M638K	possibly damaging	Het
Vps41	T	G	13: 19,036,521 (GRCm39)	I645S	probably benign	Het
Zfp703	T	C	8: 27,469,016 (GRCm39)	S227P	probably benign	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
IGL01935:Cfhr1	APN	1	139,478,740 (GRCm39)	missense	probably benign	0.26
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGGCACTGAAGCACTGATC -3'
(R):5'- GAAAGCCTCATAAGCATTCTTTAGC -3'

Sequencing Primer
(F):5'- GCACTGAAGCACTGATCAAACAATAC -3'
(R):5'- GCCTTCTTAGATCCAACAGG -3'

Posted On

2014-09-18