Mutagenetix > Incidental Mutations

Incidental Mutation 'R7643:Cfhr1'

590327

Institutional Source

Beutler Lab

Gene Symbol

Cfhr1

Ensembl Gene

ENSMUSG00000057037

Gene Name

complement factor H-related 1

Synonyms

Cfhl1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139547053-139560272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139553585 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 186 (Y186H)

Ref Sequence

ENSEMBL: ENSMUSP00000023965 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023965
AA Change: Y186H

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: Y186H

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

Coding Region Coverage

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

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	A	G	16: 38,827,863	Y295H	probably benign	Het
4931406C07Rik	A	G	9: 15,297,860	F46S	probably damaging	Het
Acaca	T	C	11: 84,338,356	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,053,832	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,593,568	Q1050L	probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,473,085	V395A	probably benign	Het
Ap3b2	T	C	7: 81,477,072	K310R	probably benign	Het
Bnc2	T	C	4: 84,506,574	D123G	probably benign	Het
Bst1	G	A	5: 43,840,449	M263I	probably benign	Het
Ccdc7a	C	T	8: 128,889,811	G937E	probably damaging	Het
Cep290	A	G	10: 100,537,553	M1232V	probably benign	Het
Dnah7c	A	T	1: 46,602,813	H1203L	probably benign	Het
Emc7	A	G	2: 112,455,279	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,421,935		probably benign	Het
Fam83c	A	G	2: 155,831,004	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,200,225	V180L	probably benign	Het
Gbp2b	G	T	3: 142,603,609	Q160H	probably benign	Het
Gm19965	C	G	1: 116,822,229	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gon4l	T	A	3: 88,902,807	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,717,816	Y303*	probably null	Het
Greb1	T	C	12: 16,711,996	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950	N36S	probably benign	Het
Hacd1	T	C	2: 14,044,791	I119V	probably damaging	Het
Ing5	T	A	1: 93,812,433	D101E	probably damaging	Het
Irak4	T	A	15: 94,558,828	N297K	probably benign	Het
Itga7	A	G	10: 128,953,501	D971G	probably benign	Het
Klf5	A	G	14: 99,313,178	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,978,198	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,020,527		probably null	Het
March4	T	G	1: 72,447,220	Q266H	probably damaging	Het
Med23	A	G	10: 24,905,965	T1056A	probably benign	Het
Megf11	T	C	9: 64,706,632	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,346,265	L85I	probably benign	Het
Nlgn2	G	T	11: 69,827,885	Q290K	probably damaging	Het
Nox4	A	T	7: 87,323,754	E323V	probably damaging	Het
Nup93	T	C	8: 94,286,619		probably null	Het
Olfr298	C	T	7: 86,489,568		probably null	Het
Olfr558	C	T	7: 102,709,538	T93I	probably benign	Het
Olfr977-ps1	T	A	9: 39,974,821	M1L	unknown	Het
Otop3	T	C	11: 115,339,648	L117P	probably damaging	Het
Pde6c	C	A	19: 38,141,421	Q260K	probably damaging	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Qser1	A	T	2: 104,786,977	Y1163*	probably null	Het
Rbm12	A	T	2: 156,098,217	I45N	unknown	Het
Rictor	T	A	15: 6,769,269	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325	S83*	probably null	Het
Sel1l3	C	T	5: 53,123,162		probably null	Het
Setd2	T	C	9: 110,567,840		probably null	Het
Spink5	A	G	18: 44,010,252	T759A	probably benign	Het
Spon2	T	A	5: 33,217,456	E2V	probably benign	Het
Tdrd1	T	C	19: 56,837,708	S144P	probably damaging	Het
Tex15	A	C	8: 33,575,120	Y1526S	probably damaging	Het
Tnfrsf21	T	C	17: 43,037,916	S140P	probably benign	Het
Trav6-2	T	A	14: 52,667,442	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,247,814		probably null	Het
Ttn	T	C	2: 76,734,827	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,573,106	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333	S211T	probably benign	Het
Zcchc4	T	C	5: 52,808,293	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,512,734	R1811K	probably benign	Het
Zfp599	G	T	9: 22,249,892	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,309,525	M108K	probably damaging	Het

Other mutations in Cfhr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Cfhr1	APN	1	139556515	unclassified	probably benign
IGL00656:Cfhr1	APN	1	139547755	unclassified	probably benign
IGL01099:Cfhr1	APN	1	139547759	unclassified	probably benign
IGL01101:Cfhr1	APN	1	139553584	missense	probably benign	0.11
IGL01617:Cfhr1	APN	1	139553679	nonsense	probably null
IGL01732:Cfhr1	APN	1	139550868	missense	probably benign	0.02
IGL01935:Cfhr1	APN	1	139551002	missense	probably benign	0.26
IGL02368:Cfhr1	APN	1	139547813	unclassified	probably benign
IGL02456:Cfhr1	APN	1	139556393	missense	possibly damaging	0.88
IGL03105:Cfhr1	APN	1	139547827	unclassified	probably benign
R0681:Cfhr1	UTSW	1	139557511	missense	probably damaging	0.99
R1466:Cfhr1	UTSW	1	139557574	missense	probably benign	0.17
R1466:Cfhr1	UTSW	1	139557574	missense	probably benign	0.17
R1829:Cfhr1	UTSW	1	139553600	missense	probably damaging	1.00
R2082:Cfhr1	UTSW	1	139550886	missense	possibly damaging	0.72
R2118:Cfhr1	UTSW	1	139550904	missense	probably benign	0.01
R3747:Cfhr1	UTSW	1	139557634	critical splice acceptor site	probably null
R3748:Cfhr1	UTSW	1	139557634	critical splice acceptor site	probably null
R3749:Cfhr1	UTSW	1	139557634	critical splice acceptor site	probably null
R4208:Cfhr1	UTSW	1	139547878	unclassified	probably benign
R4566:Cfhr1	UTSW	1	139553648	missense	possibly damaging	0.82
R4681:Cfhr1	UTSW	1	139550929	nonsense	probably null
R4839:Cfhr1	UTSW	1	139560133	missense	probably damaging	1.00
R5208:Cfhr1	UTSW	1	139556330	critical splice donor site	probably null
R5572:Cfhr1	UTSW	1	139556427	missense	possibly damaging	0.78
R6043:Cfhr1	UTSW	1	139550868	missense	probably benign	0.01
R6176:Cfhr1	UTSW	1	139550916	missense	probably damaging	1.00
R7689:Cfhr1	UTSW	1	139547740	missense	unknown
R7852:Cfhr1	UTSW	1	139556427	missense	probably damaging	0.98
R8120:Cfhr1	UTSW	1	139547845	missense	unknown
R8376:Cfhr1	UTSW	1	139547811	missense	unknown
R8433:Cfhr1	UTSW	1	139557538	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTGGCACTGAAGCATTAAGC -3'
(R):5'- TCCAACTTCATATTGAGGAGTTTGC -3'

Sequencing Primer
(F):5'- AGCAAAAGAGTACTTTCATTTTGTG -3'
(R):5'- CTTCATATTGAGGAGTTTGCCATAG -3'

Posted On

2019-10-24