Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02852:Cfhr4'

361924

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: 0.055) question?

Stock #

IGL02852

Quality Score

Status

Chromosome

Chromosomal Location

139625657-139708977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139701754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 120 (Y120C)

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: Y120C

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: Y120C

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: Y120C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: Y120C

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: Y120C

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

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: Y120C

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcar1	A	T	8: 112,441,979 (GRCm39)	L287*	probably null	Het
Birc2	A	G	9: 7,854,484 (GRCm39)	I402T	probably damaging	Het
Btrc	T	A	19: 45,501,095 (GRCm39)	L153*	probably null	Het
C2cd3	T	C	7: 100,079,396 (GRCm39)	F1245L	probably damaging	Het
Cabp7	C	T	11: 4,688,912 (GRCm39)	R186H	probably damaging	Het
Cdk5r2	T	C	1: 74,895,298 (GRCm39)	S348P	probably benign	Het
Clca3a2	T	C	3: 144,512,104 (GRCm39)	D544G	probably damaging	Het
Col6a6	A	C	9: 105,661,272 (GRCm39)	I279S	probably damaging	Het
Csmd1	T	A	8: 15,945,728 (GRCm39)	T3562S	probably damaging	Het
Dgkd	T	C	1: 87,863,135 (GRCm39)	S61P	probably damaging	Het
Dph5	T	A	3: 115,722,320 (GRCm39)	M266K	possibly damaging	Het
Gm14226	G	A	2: 154,866,841 (GRCm39)	S266N	possibly damaging	Het
Gm28047	A	G	15: 102,446,653 (GRCm39)	V400A	possibly damaging	Het
Gucy1a2	A	G	9: 3,759,691 (GRCm39)	D499G	probably benign	Het
Hoxb7	C	T	11: 96,180,320 (GRCm39)	T173M	possibly damaging	Het
Kcnn3	T	A	3: 89,516,923 (GRCm39)	I444N	probably damaging	Het
Kif1b	A	G	4: 149,375,785 (GRCm39)	I27T	probably damaging	Het
Krtap8-1	A	G	16: 89,284,753 (GRCm39)	Y15H	probably benign	Het
Myo18b	C	T	5: 112,863,377 (GRCm39)	V2154I	probably benign	Het
Pcdhb3	A	G	18: 37,435,150 (GRCm39)	D372G	probably damaging	Het
Pfkp	G	T	13: 6,655,059 (GRCm39)	P340Q	possibly damaging	Het
Plcd3	C	T	11: 102,964,631 (GRCm39)	R580Q	probably damaging	Het
Pou5f2	G	A	13: 78,173,178 (GRCm39)	R40Q	probably benign	Het
Ppara	G	T	15: 85,682,079 (GRCm39)	M258I	probably benign	Het
Proc	A	G	18: 32,258,208 (GRCm39)	S246P	probably damaging	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Ripor2	T	C	13: 24,879,681 (GRCm39)	F383S	probably damaging	Het
Rnf39	T	C	17: 37,256,094 (GRCm39)		probably benign	Het
Sema6c	C	A	3: 95,077,295 (GRCm39)		probably benign	Het
Slc16a5	A	G	11: 115,360,405 (GRCm39)	E196G	probably benign	Het
Slco1c1	T	A	6: 141,493,550 (GRCm39)	L313*	probably null	Het
Slit2	T	C	5: 48,402,014 (GRCm39)	F789S	probably damaging	Het
Spta1	A	G	1: 174,071,676 (GRCm39)	M2219V	probably benign	Het
Sqle	A	T	15: 59,197,920 (GRCm39)	H380L	probably damaging	Het
Tek	T	C	4: 94,743,561 (GRCm39)	Y859H	probably damaging	Het
Trcg1	A	T	9: 57,148,595 (GRCm39)	T56S	possibly damaging	Het
Ttc23	T	A	7: 67,316,903 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,774,648 (GRCm39)		probably benign	Het
Uba1y	C	T	Y: 828,841 (GRCm39)	R550*	probably null	Het
Ubqln4	T	C	3: 88,462,778 (GRCm39)	V81A	probably damaging	Het
Ugt2b38	C	T	5: 87,559,600 (GRCm39)	E431K	probably benign	Het
Vmn1r85	T	G	7: 12,819,010 (GRCm39)	I45L	possibly damaging	Het
Vmn2r68	T	G	7: 84,882,595 (GRCm39)	S386R	probably damaging	Het
Washc4	A	G	10: 83,419,173 (GRCm39)	T902A	possibly damaging	Het
Zc3h15	G	A	2: 83,475,015 (GRCm39)	A7T	possibly damaging	Het
Zdhhc19	A	C	16: 32,316,460 (GRCm39)	T72P	probably damaging	Het
Zfp729a	A	T	13: 67,768,070 (GRCm39)	S720T	possibly damaging	Het
Zfp729b	T	C	13: 67,740,942 (GRCm39)	K441R	probably damaging	Het
Zfy2	C	T	Y: 2,106,894 (GRCm39)	G580D	probably benign	Het
Zfy2	T	A	Y: 2,117,188 (GRCm39)	H213L	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
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
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

2015-12-18