Mutagenetix > Incidental Mutation

Incidental Mutation 'R6140:Cfhr4'

488515

Institutional Source

Beutler Lab

Gene Symbol

Cfhr4

Ensembl Gene

ENSMUSG00000070594

Gene Name

complement factor H-related 4

Synonyms

Gm4788

MMRRC Submission

044287-MU

Accession Numbers

Essential gene?

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

Stock #

R6140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139625657-139708977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139660133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 664 (V664A)

Ref Sequence

ENSEMBL: ENSMUSP00000107617 (fasta)

Gene Model

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

AlphaFold

E9Q8B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027612
AA Change: V593A

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

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: V593A

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

probably damaging
Transcript: ENSMUST00000111986
AA Change: V664A

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

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: V664A

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: V664A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: V664A

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

Meta Mutation Damage Score

0.4948

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.9%
20x: 91.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,055,923 (GRCm39)		probably benign	Het
Adgra2	A	T	8: 27,605,433 (GRCm39)	R593W	probably damaging	Het
Agfg2	T	C	5: 137,665,347 (GRCm39)	Q136R	probably damaging	Het
Ankrd42	T	C	7: 92,241,036 (GRCm39)		probably null	Het
Baz2b	T	C	2: 59,742,871 (GRCm39)	D1643G	probably damaging	Het
Ccdc171	C	T	4: 83,614,554 (GRCm39)	Q1060*	probably null	Het
Cela1	C	T	15: 100,579,037 (GRCm39)	R207H	probably benign	Het
Clic6	A	G	16: 92,336,380 (GRCm39)	R563G	probably damaging	Het
Cspg4	A	T	9: 56,804,508 (GRCm39)	H1773L	probably benign	Het
Ddrgk1	A	G	2: 130,500,534 (GRCm39)	V204A	probably benign	Het
Dhrs7c	A	T	11: 67,705,900 (GRCm39)	T218S	probably damaging	Het
Dlgap4	A	T	2: 156,604,649 (GRCm39)		probably null	Het
Hgd	A	T	16: 37,410,075 (GRCm39)	Y37F	probably benign	Het
Hmcn1	A	C	1: 150,608,597 (GRCm39)	N1528K	probably damaging	Het
Hps3	A	G	3: 20,051,151 (GRCm39)	F843S	probably damaging	Het
Ifih1	A	G	2: 62,431,804 (GRCm39)	F800S	possibly damaging	Het
Igsf21	T	A	4: 139,834,684 (GRCm39)	T63S	probably benign	Het
Il18rap	T	G	1: 40,564,212 (GRCm39)	M110R	probably benign	Het
Kcnk2	G	T	1: 188,942,104 (GRCm39)	H384Q	probably damaging	Het
Lima1	C	T	15: 99,678,939 (GRCm39)	V341M	probably damaging	Het
Lins1	T	C	7: 66,361,672 (GRCm39)	L441P	probably damaging	Het
Lss	T	C	10: 76,386,522 (GRCm39)	Y642H	probably damaging	Het
Mrc2	A	G	11: 105,237,615 (GRCm39)	T1098A	probably benign	Het
Nf1	T	A	11: 79,364,146 (GRCm39)		probably null	Het
Nrdc	G	T	4: 108,906,308 (GRCm39)	A730S	probably damaging	Het
Nup214	C	T	2: 31,941,808 (GRCm39)	T72I	possibly damaging	Het
Or6c213	T	G	10: 129,574,523 (GRCm39)	K88Q	possibly damaging	Het
Or8g33	A	G	9: 39,337,543 (GRCm39)	S275P	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Oxt	A	G	2: 130,418,191 (GRCm39)	Y21C	probably damaging	Het
Pla2g12b	G	A	10: 59,257,263 (GRCm39)		probably benign	Het
Ralgapb	T	C	2: 158,298,492 (GRCm39)	V907A	probably damaging	Het
Rnls	A	T	19: 33,115,600 (GRCm39)	D157E	probably damaging	Het
Slc7a14	C	A	3: 31,291,697 (GRCm39)	V194L	probably benign	Het
Slc7a7	G	A	14: 54,616,515 (GRCm39)	T189I	probably damaging	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
Ssh1	A	G	5: 114,080,692 (GRCm39)	Y891H	probably benign	Het
Suclg2	T	C	6: 95,546,702 (GRCm39)	D258G	probably damaging	Het
Tpk1	A	T	6: 43,400,635 (GRCm39)	M129K	probably benign	Het
Ubr3	A	G	2: 69,803,673 (GRCm39)	I1088V	probably benign	Het
Vmn1r3	A	G	4: 3,185,031 (GRCm39)	I92T	probably damaging	Het
Vmn2r69	G	A	7: 85,060,657 (GRCm39)	S309F	probably damaging	Het
Wsb1	A	T	11: 79,132,444 (GRCm39)	H325Q	probably damaging	Het
Zfp263	A	G	16: 3,566,081 (GRCm39)	S281G	probably benign	Het
Zfp507	A	G	7: 35,493,613 (GRCm39)	S477P	probably damaging	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
R6200:Cfhr4	UTSW	1	139,682,073 (GRCm39)	missense	probably damaging	0.97
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'- TCCAGCATCCAGAGCTATGC -3'
(R):5'- CAGAATGTGGTATTAGGAAGCATTTC -3'

Sequencing Primer
(F):5'- GCAGCAAAACCTTCTTATATGCTAG -3'
(R):5'- GGAAGCATTTCCCACCTTCTTTCTG -3'

Posted On

2017-10-10