Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Cfhr1'

646660

Institutional Source

Beutler Lab

Gene Symbol

Cfhr1

Ensembl Gene

ENSMUSG00000057037

Gene Name

complement factor H-related 1

Synonyms

Cfhl1

MMRRC Submission

067744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139474802-139487960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 139475549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 307 (C307W)

Ref Sequence

ENSEMBL: ENSMUSP00000023965 (fasta)

Gene Model

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

AlphaFold

Q61406

Predicted Effect

unknown
Transcript: ENSMUST00000023965
AA Change: C307W

SMART Domains

Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: C307W

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

probably benign
Transcript: ENSMUST00000161224

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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
Adam32	A	C	8: 25,409,936 (GRCm39)	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,610,520 (GRCm39)	D599G	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atp12a	G	T	14: 56,612,083 (GRCm39)		probably null	Het
Birc6	C	T	17: 74,896,635 (GRCm39)	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Brms1l	C	A	12: 55,888,414 (GRCm39)	N67K	probably benign	Het
Cachd1	G	A	4: 100,832,073 (GRCm39)	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,354,665 (GRCm39)	Q238*	probably null	Het
Cdc42	G	A	4: 137,056,205 (GRCm39)	T102I	probably benign	Het
Ddb1	G	A	19: 10,596,669 (GRCm39)	V463M	probably damaging	Het
Dhx30	G	A	9: 109,917,707 (GRCm39)	R365C	probably benign	Het
Dnah1	A	G	14: 31,023,303 (GRCm39)	F1005L	probably damaging	Het
Elp4	A	G	2: 105,672,653 (GRCm39)	V144A	probably benign	Het
Enpp2	T	A	15: 54,773,491 (GRCm39)	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,063,519 (GRCm39)	V317I	possibly damaging	Het
Gc	G	A	5: 89,586,118 (GRCm39)	Q341*	probably null	Het
Gpt2	A	T	8: 86,219,694 (GRCm39)	I47F	probably benign	Het
Ino80	A	T	2: 119,272,968 (GRCm39)	S503T	probably benign	Het
Kcnn4	C	A	7: 24,077,051 (GRCm39)	T200K	possibly damaging	Het
Krtap4-7	A	G	11: 99,534,753 (GRCm39)	S37P	unknown	Het
Lrrc4b	T	C	7: 44,112,018 (GRCm39)	V630A	probably benign	Het
Man2a2	C	T	7: 80,010,671 (GRCm39)	W773*	probably null	Het
Mgrn1	T	A	16: 4,733,630 (GRCm39)	L192Q	probably damaging	Het
Mtx1	A	G	3: 89,121,478 (GRCm39)	V52A	probably benign	Het
Myc	A	T	15: 61,859,395 (GRCm39)	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,551,076 (GRCm39)	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,023,592 (GRCm39)	N493D	probably damaging	Het
Or52w1	C	A	7: 105,017,847 (GRCm39)	P105T	probably benign	Het
Osbpl10	G	A	9: 115,052,661 (GRCm39)	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,518,684 (GRCm39)	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,426,947 (GRCm39)	I703V	possibly damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,944,071 (GRCm39)	S36P	probably damaging	Het
Plk5	T	C	10: 80,196,179 (GRCm39)	F279L	probably damaging	Het
Prl7a1	T	G	13: 27,821,638 (GRCm39)	E99D	probably benign	Het
Rnf4	C	T	5: 34,508,701 (GRCm39)	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scel	A	G	14: 103,809,451 (GRCm39)	S264G	probably benign	Het
Sdk1	A	G	5: 142,144,376 (GRCm39)	Q1712R	possibly damaging	Het
Slc15a1	A	G	14: 121,718,115 (GRCm39)	Y255H	probably benign	Het
Syne1	C	T	10: 4,993,615 (GRCm39)	G525D	probably benign	Het
Taldo1	T	C	7: 140,981,788 (GRCm39)	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,853 (GRCm39)	T428A	probably damaging	Het
Tlr6	T	C	5: 65,112,455 (GRCm39)	K151E	probably benign	Het
Ubr2	T	A	17: 47,253,721 (GRCm39)	D1468V	probably benign	Het
Ubtf	A	C	11: 102,199,737 (GRCm39)	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,314,697 (GRCm39)	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,149,869 (GRCm39)	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,525,230 (GRCm39)	V296D	probably damaging	Het
Zfp65	A	C	13: 67,857,037 (GRCm39)	Y81D	probably damaging	Het
Zw10	A	T	9: 48,988,783 (GRCm39)	Y683F	possibly 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
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
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
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'- GTAGCAGTAATATTCATGTGCATTTC -3'
(R):5'- TGGAATTCATCTATAAATAAGGGGTGA -3'

Sequencing Primer
(F):5'- CAGCGTGATCTACAGAGTGAGTTCC -3'
(R):5'- AAGGGGTGATTTCTTTAGGTTTATG -3'

Posted On

2020-09-02