Mutagenetix > Incidental Mutation

Incidental Mutation 'R6200:Cfhr4'

503131

Institutional Source

Beutler Lab

Gene Symbol

Cfhr4

Ensembl Gene

ENSMUSG00000070594

Gene Name

complement factor H-related 4

Synonyms

Gm4788

MMRRC Submission

044340-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6200 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139625657-139708977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139682073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 174 (R174S)

Ref Sequence

ENSEMBL: ENSMUSP00000107620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027612] [ENSMUST00000111986] [ENSMUST00000111989]

AlphaFold

E9Q8B5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027612
AA Change: R174S

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: R174S

Domain	Start	End	E-Value	Type
CCP	28	88	1.65e-2	SMART
CCP	92	145	1.15e-10	SMART
CCP	151	208	5.65e-10	SMART
CCP	212	267	1.12e-4	SMART
CCP	272	325	4.52e-9	SMART
CCP	332	386	9.1e-14	SMART
CCP	393	446	1.58e-13	SMART
CCP	455	505	4.92e-1	SMART
CCP	511	564	8.9e-8	SMART
CCP	569	622	4.18e-13	SMART
CCP	627	681	3.5e-15	SMART
CCP	688	742	5.69e-15	SMART
CCP	746	807	2.77e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111986
AA Change: R174S

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: R174S

Domain	Start	End	E-Value	Type
CCP	28	88	1.65e-2	SMART
CCP	92	145	1.15e-10	SMART
CCP	151	208	5.65e-10	SMART
CCP	212	267	1.12e-4	SMART
CCP	272	325	4.52e-9	SMART
CCP	333	387	9.1e-14	SMART
CCP	394	447	1.58e-13	SMART
CCP	456	506	4.92e-1	SMART
CCP	512	565	8.9e-8	SMART
CCP	571	635	2.66e-6	SMART
CCP	640	693	4.18e-13	SMART
CCP	700	754	5.69e-15	SMART
CCP	758	819	2.77e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111989
AA Change: R174S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: R174S

Domain	Start	End	E-Value	Type
CCP	28	88	1.65e-2	SMART
CCP	92	145	1.15e-10	SMART
CCP	151	208	5.65e-10	SMART
CCP	212	267	1.12e-4	SMART
CCP	272	325	4.52e-9	SMART
CCP	333	387	9.1e-14	SMART
CCP	394	447	1.58e-13	SMART
CCP	456	506	4.92e-1	SMART
CCP	512	565	8.9e-8	SMART
CCP	571	635	2.66e-6	SMART
CCP	640	693	4.18e-13	SMART
CCP	698	752	3.5e-15	SMART
CCP	759	813	5.69e-15	SMART
CCP	817	878	2.77e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

91% (32/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,980,876 (GRCm39)	Y54C	probably damaging	Het
Ash1l	A	G	3: 88,977,834 (GRCm39)	H2719R	probably damaging	Het
Atraid	A	G	5: 31,210,210 (GRCm39)	N127D	probably damaging	Het
Capzb	T	C	4: 139,007,324 (GRCm39)	V145A	probably benign	Het
Catspere2	A	G	1: 177,939,124 (GRCm39)	N666D	possibly damaging	Het
Cldn17	A	C	16: 88,303,459 (GRCm39)	L90R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Fancc	A	C	13: 63,508,062 (GRCm39)	L158V	probably damaging	Het
Fcamr	T	C	1: 130,730,927 (GRCm39)	L60P	probably benign	Het
G6pd2	C	T	5: 61,967,214 (GRCm39)	R330C	probably benign	Het
Gpr158	A	T	2: 21,404,227 (GRCm39)	N333I	probably damaging	Het
Herpud2	A	G	9: 25,062,130 (GRCm39)	Y45H	probably damaging	Het
Icam5	A	G	9: 20,950,045 (GRCm39)	Y868C	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Homo
Luzp1	C	A	4: 136,268,577 (GRCm39)	Q267K	probably benign	Het
Nkpd1	C	A	7: 19,258,528 (GRCm39)	A769E	possibly damaging	Het
Or5p58	AACTCTGTCACT	AACT	7: 107,694,732 (GRCm39)		probably null	Het
Pabpc4l	C	A	3: 46,401,138 (GRCm39)	V169L	probably damaging	Het
Pcdhga7	A	G	18: 37,849,135 (GRCm39)	N381D	probably damaging	Het
Pcsk1	A	T	13: 75,263,374 (GRCm39)	N372Y	possibly damaging	Het
Ppp1r21	C	T	17: 88,876,613 (GRCm39)	T475M	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Psd2	G	A	18: 36,139,776 (GRCm39)		probably null	Het
Psip1	T	C	4: 83,392,610 (GRCm39)	K100E	probably benign	Het
Pxdn	A	G	12: 30,053,111 (GRCm39)	H1096R	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a8	C	T	15: 79,137,137 (GRCm39)	G91D	probably damaging	Het
Slc22a21	A	T	11: 53,848,864 (GRCm39)	I296N	probably damaging	Het
Smad9	A	G	3: 54,696,607 (GRCm39)	D224G	probably benign	Het
Tle2	G	A	10: 81,424,706 (GRCm39)	V678M	probably damaging	Het
Tmc1	C	T	19: 20,766,954 (GRCm39)	R749Q	possibly damaging	Het
Tmco3	T	A	8: 13,342,077 (GRCm39)		probably null	Het
Tspoap1	A	G	11: 87,652,529 (GRCm39)	E101G	possibly damaging	Het
Zfp57	A	T	17: 37,321,303 (GRCm39)	T386S	probably benign	Het

Other mutations in Cfhr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Cfhr4	APN	1	139,659,312 (GRCm39)	missense	probably damaging	0.99
IGL01088:Cfhr4	APN	1	139,625,823 (GRCm39)	utr 3 prime	probably benign
IGL01419:Cfhr4	APN	1	139,667,382 (GRCm39)	critical splice acceptor site	probably null
IGL01552:Cfhr4	APN	1	139,667,040 (GRCm39)	missense	probably damaging	1.00
IGL01924:Cfhr4	APN	1	139,666,944 (GRCm39)	missense	probably damaging	0.99
IGL02032:Cfhr4	APN	1	139,702,284 (GRCm39)	missense	probably damaging	1.00
IGL02254:Cfhr4	APN	1	139,661,143 (GRCm39)	splice site	probably benign
IGL02318:Cfhr4	APN	1	139,708,835 (GRCm39)	missense	probably benign	0.20
IGL02527:Cfhr4	APN	1	139,680,783 (GRCm39)	missense	probably damaging	1.00
IGL02531:Cfhr4	APN	1	139,702,307 (GRCm39)	missense	probably benign	0.10
IGL02587:Cfhr4	APN	1	139,629,668 (GRCm39)	missense	probably damaging	1.00
IGL02644:Cfhr4	APN	1	139,708,905 (GRCm39)	start codon destroyed	probably null	0.63
IGL02852:Cfhr4	APN	1	139,701,754 (GRCm39)	missense	probably damaging	1.00
IGL02963:Cfhr4	APN	1	139,659,334 (GRCm39)	nonsense	probably null
IGL03084:Cfhr4	APN	1	139,708,880 (GRCm39)	missense	possibly damaging	0.94
R0131:Cfhr4	UTSW	1	139,682,009 (GRCm39)	missense	probably damaging	0.98
R0131:Cfhr4	UTSW	1	139,682,009 (GRCm39)	missense	probably damaging	0.98
R0132:Cfhr4	UTSW	1	139,682,009 (GRCm39)	missense	probably damaging	0.98
R0549:Cfhr4	UTSW	1	139,667,226 (GRCm39)	missense	probably damaging	1.00
R0558:Cfhr4	UTSW	1	139,667,230 (GRCm39)	missense	probably damaging	0.99
R0610:Cfhr4	UTSW	1	139,629,584 (GRCm39)	missense	probably benign	0.20
R1341:Cfhr4	UTSW	1	139,660,131 (GRCm39)	missense	probably damaging	0.98
R1460:Cfhr4	UTSW	1	139,625,934 (GRCm39)	missense	probably damaging	0.99
R1544:Cfhr4	UTSW	1	139,664,608 (GRCm39)	missense	probably damaging	1.00
R1873:Cfhr4	UTSW	1	139,702,398 (GRCm39)	missense	probably damaging	0.97
R2032:Cfhr4	UTSW	1	139,660,993 (GRCm39)	splice site	probably benign
R2111:Cfhr4	UTSW	1	139,702,417 (GRCm39)	splice site	probably benign
R2179:Cfhr4	UTSW	1	139,659,279 (GRCm39)	missense	probably damaging	1.00
R3806:Cfhr4	UTSW	1	139,680,773 (GRCm39)	missense	probably damaging	1.00
R4356:Cfhr4	UTSW	1	139,660,048 (GRCm39)	missense	probably damaging	1.00
R4747:Cfhr4	UTSW	1	139,625,922 (GRCm39)	missense	probably damaging	1.00
R4838:Cfhr4	UTSW	1	139,661,181 (GRCm39)	missense	probably damaging	1.00
R4867:Cfhr4	UTSW	1	139,702,213 (GRCm39)	critical splice donor site	probably null
R4910:Cfhr4	UTSW	1	139,702,301 (GRCm39)	missense	probably damaging	1.00
R4911:Cfhr4	UTSW	1	139,702,301 (GRCm39)	missense	probably damaging	1.00
R5050:Cfhr4	UTSW	1	139,664,578 (GRCm39)	missense	probably damaging	0.99
R5120:Cfhr4	UTSW	1	139,680,841 (GRCm39)	missense	probably benign	0.39
R5259:Cfhr4	UTSW	1	139,668,233 (GRCm39)	missense	probably damaging	1.00
R5504:Cfhr4	UTSW	1	139,629,558 (GRCm39)	missense	probably benign	0.18
R5825:Cfhr4	UTSW	1	139,702,336 (GRCm39)	splice site	probably null
R5949:Cfhr4	UTSW	1	139,660,887 (GRCm39)	missense	probably damaging	0.98
R6140:Cfhr4	UTSW	1	139,660,133 (GRCm39)	missense	probably damaging	1.00
R6254:Cfhr4	UTSW	1	139,682,128 (GRCm39)	missense	probably damaging	0.98
R6255:Cfhr4	UTSW	1	139,680,749 (GRCm39)	nonsense	probably null
R6334:Cfhr4	UTSW	1	139,701,662 (GRCm39)	splice site	probably null
R6611:Cfhr4	UTSW	1	139,660,128 (GRCm39)	missense	probably damaging	1.00
R6798:Cfhr4	UTSW	1	139,625,859 (GRCm39)	missense	probably benign	0.20
R6800:Cfhr4	UTSW	1	139,629,719 (GRCm39)	missense	possibly damaging	0.85
R6895:Cfhr4	UTSW	1	139,668,210 (GRCm39)	missense	possibly damaging	0.84
R6904:Cfhr4	UTSW	1	139,659,391 (GRCm39)	missense	possibly damaging	0.79
R6994:Cfhr4	UTSW	1	139,664,668 (GRCm39)	missense	possibly damaging	0.67
R7173:Cfhr4	UTSW	1	139,659,415 (GRCm39)	nonsense	probably null
R7184:Cfhr4	UTSW	1	139,660,822 (GRCm39)	missense	possibly damaging	0.65
R7192:Cfhr4	UTSW	1	139,667,033 (GRCm39)	missense	probably damaging	0.96
R7205:Cfhr4	UTSW	1	139,680,788 (GRCm39)	nonsense	probably null
R7302:Cfhr4	UTSW	1	139,667,436 (GRCm39)	splice site	probably null
R7308:Cfhr4	UTSW	1	139,682,041 (GRCm39)	missense	possibly damaging	0.71
R7735:Cfhr4	UTSW	1	139,660,039 (GRCm39)	critical splice donor site	probably null
R8006:Cfhr4	UTSW	1	139,664,590 (GRCm39)	missense	probably damaging	1.00
R8045:Cfhr4	UTSW	1	139,661,243 (GRCm39)	missense	probably damaging	0.99
R8188:Cfhr4	UTSW	1	139,625,868 (GRCm39)	missense	probably damaging	1.00
R8339:Cfhr4	UTSW	1	139,660,157 (GRCm39)	missense	probably damaging	1.00
R9156:Cfhr4	UTSW	1	139,660,085 (GRCm39)	missense	probably damaging	0.96
R9339:Cfhr4	UTSW	1	139,682,044 (GRCm39)	missense	probably benign	0.26
R9520:Cfhr4	UTSW	1	139,682,135 (GRCm39)	missense	probably damaging	0.99
R9525:Cfhr4	UTSW	1	139,702,250 (GRCm39)	missense	probably damaging	1.00
R9554:Cfhr4	UTSW	1	139,668,169 (GRCm39)	missense	probably benign	0.04
R9635:Cfhr4	UTSW	1	139,701,764 (GRCm39)	missense	probably damaging	1.00
R9669:Cfhr4	UTSW	1	139,708,872 (GRCm39)	missense	probably damaging	0.96
R9737:Cfhr4	UTSW	1	139,708,872 (GRCm39)	missense	probably damaging	0.96
X0009:Cfhr4	UTSW	1	139,661,287 (GRCm39)	missense	probably benign	0.08
X0024:Cfhr4	UTSW	1	139,661,247 (GRCm39)	missense	probably damaging	1.00
Z1088:Cfhr4	UTSW	1	139,681,999 (GRCm39)	missense	probably damaging	0.99
Z1176:Cfhr4	UTSW	1	139,661,186 (GRCm39)	missense	probably damaging	1.00
Z1176:Cfhr4	UTSW	1	139,625,994 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GTTGCAGCTCTTCAAAGACTTC -3'
(R):5'- ACTTGAGTGTTCAGAATCTCAGATG -3'

Sequencing Primer
(F):5'- TGAACGGATATTCTACAATGCAGG -3'
(R):5'- GTGTTCAGAATCTCAGATGACTATG -3'

Posted On

2018-02-27