Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03084:Cfhr4'

417984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfhr4

Ensembl Gene

ENSMUSG00000070594

Gene Name

complement factor H-related 4

Synonyms

Gm4788

Accession Numbers

Essential gene?

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

Stock #

IGL03084

Quality Score

Status

Chromosome

Chromosomal Location

139625657-139708977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139708880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 9 (L9F)

Ref Sequence

ENSEMBL: ENSMUSP00000027612 (fasta)

Gene Model

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

AlphaFold

E9Q8B5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027612
AA Change: L9F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: L9F

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 benign
Transcript: ENSMUST00000111986
AA Change: L9F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: L9F

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

possibly damaging
Transcript: ENSMUST00000111989
AA Change: L9F

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: L9F

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	T	8: 111,768,261 (GRCm39)	V211L	probably damaging	Het
BC024139	T	C	15: 76,004,007 (GRCm39)	D753G	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cachd1	T	A	4: 100,860,285 (GRCm39)	D1285E	probably damaging	Het
Cacna1b	T	C	2: 24,499,944 (GRCm39)	T147A	probably benign	Het
Cdc14a	A	G	3: 116,142,101 (GRCm39)		probably null	Het
Chd1	A	G	17: 15,990,560 (GRCm39)	H1704R	probably benign	Het
Dmkn	T	G	7: 30,470,481 (GRCm39)	N367K	possibly damaging	Het
Fam151b	C	A	13: 92,604,534 (GRCm39)	D152Y	probably damaging	Het
Gabrg3	T	C	7: 56,384,812 (GRCm39)	S250G	possibly damaging	Het
Gm28042	A	G	2: 119,870,986 (GRCm39)	Q833R	probably benign	Het
Gnpat	A	C	8: 125,605,638 (GRCm39)	Y336S	probably damaging	Het
Ighv1-54	G	A	12: 115,157,736 (GRCm39)		probably benign	Het
Irag1	A	G	7: 110,485,036 (GRCm39)		probably benign	Het
Kif2c	T	C	4: 117,035,355 (GRCm39)	N31S	possibly damaging	Het
Larp1	T	A	11: 57,947,921 (GRCm39)	L939Q	probably damaging	Het
Lrrc69	G	A	4: 14,708,631 (GRCm39)	P238S	probably damaging	Het
Lypd10	T	C	7: 24,413,605 (GRCm39)	I207T	possibly damaging	Het
Lztfl1	C	T	9: 123,538,641 (GRCm39)	G152E	probably damaging	Het
Man2a2	T	C	7: 80,002,691 (GRCm39)	T1097A	possibly damaging	Het
Myh4	A	G	11: 67,142,777 (GRCm39)		probably null	Het
Nab2	C	T	10: 127,500,346 (GRCm39)	V249M	probably damaging	Het
Nid2	A	T	14: 19,819,000 (GRCm39)	D498V	probably benign	Het
Nrap	T	C	19: 56,353,886 (GRCm39)	T404A	probably damaging	Het
Or51i1	A	G	7: 103,670,838 (GRCm39)	V229A	probably benign	Het
Or5al7	A	T	2: 85,992,569 (GRCm39)	C241*	probably null	Het
Or5c1	T	C	2: 37,222,413 (GRCm39)	I218T	probably damaging	Het
Or8c9	T	G	9: 38,241,513 (GRCm39)	I210S	probably damaging	Het
Pard3	A	G	8: 128,319,573 (GRCm39)	I1104V	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppfia3	A	G	7: 44,989,651 (GRCm39)	V1187A	probably benign	Het
Ppp1r16b	G	A	2: 158,603,413 (GRCm39)	W346*	probably null	Het
Rpl4	A	G	9: 64,085,599 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,915,053 (GRCm39)	I1206F	probably damaging	Het
Slc5a2	T	C	7: 127,865,776 (GRCm39)	S61P	probably benign	Het
Smarcal1	T	C	1: 72,638,094 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,281,433 (GRCm39)	H302R	probably benign	Het
Sntb1	A	G	15: 55,655,487 (GRCm39)	I243T	probably damaging	Het
Stx8	C	T	11: 67,911,782 (GRCm39)	Q167*	probably null	Het
Sycp2	C	A	2: 178,033,584 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,626,742 (GRCm39)	V13088D	probably damaging	Het
Ugt2b1	T	A	5: 87,074,243 (GRCm39)	M39L	probably benign	Het
Utp6	A	T	11: 79,853,042 (GRCm39)		probably null	Het
Vmn1r189	A	T	13: 22,286,008 (GRCm39)	Y276*	probably null	Het
Vmn2r11	T	A	5: 109,207,209 (GRCm39)	D37V	probably benign	Het
Vmn2r16	T	G	5: 109,478,292 (GRCm39)	F16V	probably damaging	Het
Vmn2r65	A	T	7: 84,592,354 (GRCm39)	M538K	probably damaging	Het
Zfp143	T	A	7: 109,668,818 (GRCm39)		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
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
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

Posted On

2016-08-02