Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Cfhr1'

487737

Institutional Source

Beutler Lab

Gene Symbol

Cfhr1

Ensembl Gene

ENSMUSG00000057037

Gene Name

complement factor H-related 1

Synonyms

Cfhl1

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

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

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139474802-139487960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139478654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 58 (S58P)

Gene Model

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

AlphaFold

Q61406

Predicted Effect

probably damaging
Transcript: ENSMUST00000023965
AA Change: S239P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: S239P

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 damaging
Transcript: ENSMUST00000161224
AA Change: S58P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	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
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'- ATCTTGCCTTCTTAGATCCA -3'

Posted On

2017-10-10