Mutagenetix > Incidental Mutation

Incidental Mutation 'R4910:Cfhr4'

379349

Institutional Source

Beutler Lab

Gene Symbol

Cfhr4

Ensembl Gene

ENSMUSG00000070594

Gene Name

complement factor H-related 4

Synonyms

Gm4788

MMRRC Submission

042512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139625657-139708977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 139702301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 61 (D61A)

Ref Sequence

ENSEMBL: ENSMUSP00000107620 (fasta)

Gene Model

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

AlphaFold

E9Q8B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027612
AA Change: D61A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: D61A

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: D61A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: D61A

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: D61A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: D61A

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

0.8537

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.6%
20x: 86.1%

Validation Efficiency

95% (144/151)

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,435 (GRCm39)		probably null	Het
Adam3	T	A	8: 25,184,321 (GRCm39)	I560L	probably benign	Het
Agxt	T	C	1: 93,063,436 (GRCm39)	F113L	probably benign	Het
Aknad1	T	A	3: 108,688,568 (GRCm39)		probably null	Het
Alpk2	T	A	18: 65,399,357 (GRCm39)	K2074*	probably null	Het
Apob	A	G	12: 8,057,848 (GRCm39)	Y2077C	probably damaging	Het
Arhgap17	A	T	7: 122,907,600 (GRCm39)	L254Q	probably damaging	Het
Arhgap26	T	A	18: 39,126,690 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,249,762 (GRCm39)	D171G	probably benign	Het
Arid1b	T	A	17: 5,392,478 (GRCm39)	S2003T	probably damaging	Het
Armc5	T	G	7: 127,839,900 (GRCm39)	L406R	possibly damaging	Het
Arsb	T	C	13: 93,908,485 (GRCm39)	V67A	probably benign	Het
Aspm	A	G	1: 139,419,281 (GRCm39)	Y2982C	probably damaging	Het
Bltp1	C	A	3: 37,052,348 (GRCm39)	T3016K	probably damaging	Het
Btbd7	A	G	12: 102,774,307 (GRCm39)	L487P	probably damaging	Het
Card11	C	G	5: 140,860,169 (GRCm39)	D1063H	probably damaging	Het
Ccdc186	G	A	19: 56,787,123 (GRCm39)	T615M	probably damaging	Het
Cd101	T	A	3: 100,901,205 (GRCm39)	T960S	probably benign	Het
Cdca7l	C	A	12: 117,837,520 (GRCm39)	S191*	probably null	Het
Cemip	A	T	7: 83,646,619 (GRCm39)	I143N	probably damaging	Het
Cep170	C	T	1: 176,609,829 (GRCm39)	E161K	possibly damaging	Het
Chrm2	A	T	6: 36,501,168 (GRCm39)	T342S	probably benign	Het
Cib2	A	G	9: 54,457,163 (GRCm39)	F34L	probably benign	Het
Cnot1	A	T	8: 96,459,859 (GRCm39)	I1836N	probably benign	Het
Col4a3	C	A	1: 82,650,400 (GRCm39)	P552Q	unknown	Het
Cp	T	A	3: 20,043,388 (GRCm39)		probably benign	Het
Cul3	C	T	1: 80,267,806 (GRCm39)	V112I	probably benign	Het
Dcdc5	A	G	2: 106,195,895 (GRCm39)		noncoding transcript	Het
Disp1	A	T	1: 182,917,027 (GRCm39)	V133E	probably damaging	Het
Dlg4	A	G	11: 69,921,751 (GRCm39)	D30G	probably damaging	Het
Dop1a	C	T	9: 86,374,114 (GRCm39)	T191I	probably damaging	Het
Enam	T	G	5: 88,650,173 (GRCm39)	S561A	probably benign	Het
Fbxw8	G	T	5: 118,263,092 (GRCm39)		probably null	Het
Filip1	A	G	9: 79,725,214 (GRCm39)	V1135A	probably benign	Het
Galnt6	T	C	15: 100,614,059 (GRCm39)	T81A	probably benign	Het
Ghdc	T	C	11: 100,657,814 (GRCm39)	K472E	probably benign	Het
Gm10568	T	G	1: 3,751,164 (GRCm39)		noncoding transcript	Het
Gm4953	T	A	1: 158,995,929 (GRCm39)		noncoding transcript	Het
Gm6871	T	A	7: 41,223,016 (GRCm39)	H24L	probably benign	Het
Gpr155	G	A	2: 73,197,882 (GRCm39)	Q413*	probably null	Het
Grhl2	A	G	15: 37,291,920 (GRCm39)		probably null	Het
Ighv1-31	G	C	12: 114,793,128 (GRCm39)	S36*	probably null	Het
Ighv8-5	A	G	12: 115,031,462 (GRCm39)	S26P	probably damaging	Het
Igkv17-134	A	C	6: 67,697,910 (GRCm39)		probably benign	Het
Igkv5-48	A	C	6: 69,703,833 (GRCm39)	L24R	probably damaging	Het
Isg20l2	T	A	3: 87,846,570 (GRCm39)	V340E	probably damaging	Het
Lrrtm1	A	G	6: 77,221,884 (GRCm39)	Y447C	probably damaging	Het
Ltbp1	T	C	17: 75,634,287 (GRCm39)	S855P	probably damaging	Het
Mgat4e	A	T	1: 134,469,602 (GRCm39)	N147K	probably damaging	Het
Mlc1	A	G	15: 88,842,415 (GRCm39)	L315P	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,292 (GRCm39)	V322A	probably benign	Het
Mroh7	T	C	4: 106,567,152 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,391,586 (GRCm39)	K304*	probably null	Het
Nlrp14	A	C	7: 106,785,790 (GRCm39)	D622A	possibly damaging	Het
Nlrp1b	T	A	11: 71,108,103 (GRCm39)	H466L	probably benign	Het
Nlrp4d	T	A	7: 10,112,336 (GRCm39)		noncoding transcript	Het
Nrxn3	A	G	12: 89,227,130 (GRCm39)	E628G	possibly damaging	Het
Nup133	T	C	8: 124,653,870 (GRCm39)	R530G	possibly damaging	Het
Nup98	A	G	7: 101,845,007 (GRCm39)	S21P	unknown	Het
Or2h2b-ps1	T	C	17: 37,480,934 (GRCm39)	I202V	probably benign	Het
Or2l13b	T	C	16: 19,348,768 (GRCm39)	T301A	probably benign	Het
Or4f14b	A	T	2: 111,775,423 (GRCm39)	I126K	possibly damaging	Het
Or52e8	G	A	7: 104,624,686 (GRCm39)	P169S	possibly damaging	Het
Or5k1	T	A	16: 58,617,805 (GRCm39)	T135S	probably benign	Het
Or6c66	T	C	10: 129,461,676 (GRCm39)	T85A	probably damaging	Het
Or8c11	T	A	9: 38,290,038 (GRCm39)	V287E	probably null	Het
Otog	A	T	7: 45,913,486 (GRCm39)	Y773F	probably damaging	Het
Otog	A	T	7: 45,947,958 (GRCm39)	I2320F	probably damaging	Het
Otogl	T	C	10: 107,715,378 (GRCm39)	S433G	probably benign	Het
Pcdhb17	A	T	18: 37,618,212 (GRCm39)	M1L	possibly damaging	Het
Pde7b	T	A	10: 20,600,480 (GRCm39)		probably benign	Het
Pgm1	T	C	4: 99,820,724 (GRCm39)	V207A	probably damaging	Het
Pkd1	T	A	17: 24,791,661 (GRCm39)	V1116E	probably damaging	Het
Pkd1l1	T	A	11: 8,879,360 (GRCm39)	Y497F	possibly damaging	Het
Pomgnt2	T	C	9: 121,812,013 (GRCm39)	N256S	probably benign	Het
Pot1a	A	T	6: 25,746,020 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,764,585 (GRCm39)	T732A	probably benign	Het
Prg4	T	A	1: 150,331,574 (GRCm39)		probably benign	Het
Ptpro	T	C	6: 137,345,336 (GRCm39)	V114A	probably damaging	Het
Pyurf	A	G	6: 57,668,933 (GRCm39)	S20P	unknown	Het
Rasgrf1	A	G	9: 89,858,805 (GRCm39)	T488A	probably benign	Het
Rassf8	A	T	6: 145,761,006 (GRCm39)	K111*	probably null	Het
Reps1	A	T	10: 17,983,436 (GRCm39)	E426D	probably damaging	Het
Robo2	T	C	16: 73,730,666 (GRCm39)	K982R	probably damaging	Het
Rps23	T	C	13: 91,071,871 (GRCm39)		probably null	Het
Scamp4	T	A	10: 80,445,505 (GRCm39)	V56E	probably damaging	Het
Serpina1c	C	T	12: 103,861,291 (GRCm39)	V408I	probably benign	Het
Sigirr	A	G	7: 140,673,701 (GRCm39)	W49R	probably damaging	Het
Slc17a6	A	T	7: 51,308,489 (GRCm39)	H271L	possibly damaging	Het
Slc7a5	G	T	8: 122,611,861 (GRCm39)	T389K	probably damaging	Het
Slf1	T	A	13: 77,191,999 (GRCm39)	H945L	probably benign	Het
Slit3	T	C	11: 35,523,549 (GRCm39)	S662P	probably damaging	Het
Snta1	C	A	2: 154,218,938 (GRCm39)	E466*	probably null	Het
Sowaha	A	G	11: 53,369,272 (GRCm39)	L488P	probably damaging	Het
Spata17	C	A	1: 186,926,208 (GRCm39)	V41F	probably damaging	Het
Spta1	T	A	1: 174,045,429 (GRCm39)		probably null	Het
Srrm2	T	A	17: 24,034,362 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,985,992 (GRCm39)	N388S	probably benign	Het
Stmn3	T	C	2: 180,950,630 (GRCm39)	K59E	probably damaging	Het
Sval1	A	G	6: 41,932,378 (GRCm39)	N76S	probably benign	Het
Svep1	T	C	4: 58,096,276 (GRCm39)	H1448R	possibly damaging	Het
Sycp2	A	T	2: 178,000,017 (GRCm39)	D986E	probably benign	Het
Sytl5	C	T	X: 9,781,841 (GRCm39)	P181L	possibly damaging	Het
Tbkbp1	G	A	11: 97,029,956 (GRCm39)	S400L	probably benign	Het
Tesc	G	T	5: 118,194,531 (GRCm39)		probably benign	Het
Tjp1	C	T	7: 64,993,475 (GRCm39)	G33R	probably damaging	Het
Tlr11	C	A	14: 50,600,346 (GRCm39)	F777L	probably benign	Het
Tmem156	A	G	5: 65,248,805 (GRCm39)		probably benign	Het
Top3a	A	G	11: 60,643,204 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,694,584 (GRCm39)	W162R	probably damaging	Het
Tpd52l2	A	T	2: 181,157,005 (GRCm39)		probably benign	Het
Trim80	G	A	11: 115,337,281 (GRCm39)	G381D	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r117	TC	T	17: 23,698,487 (GRCm39)		probably null	Het
Vmn2r56	T	A	7: 12,449,462 (GRCm39)	I259F	possibly damaging	Het
Vmn2r59	T	C	7: 41,693,077 (GRCm39)	T508A	probably benign	Het
Wdr73	A	G	7: 80,541,456 (GRCm39)	V362A	probably damaging	Het
Zdhhc21	G	T	4: 82,738,568 (GRCm39)	T207K	possibly damaging	Het
Zfp120	T	A	2: 149,959,872 (GRCm39)	Q150L	probably damaging	Het
Zfp212	C	A	6: 47,908,433 (GRCm39)	Q471K	possibly damaging	Het
Zfp804b	C	T	5: 6,820,540 (GRCm39)	G841D	possibly damaging	Het
Znfx1	A	T	2: 166,878,724 (GRCm39)	M1884K	probably damaging	Het
Znfx1	G	T	2: 166,879,402 (GRCm39)	A1658D	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
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
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'- TGAAGAGCTGCTCCCAAAGG -3'
(R):5'- GATATCCCCACAAACCAATGTTTTC -3'

Sequencing Primer
(F):5'- GGAGAGAAACTAGCCTTTTTGCTCAC -3'
(R):5'- CCACAAACCAATGTTTTCTCTTG -3'

Posted On

2016-04-15