Mutagenetix > Incidental Mutation

Incidental Mutation 'R6895:Cfhr4'

538268

Institutional Source

Beutler Lab

Gene Symbol

Cfhr4

Ensembl Gene

ENSMUSG00000070594

Gene Name

complement factor H-related 4

Synonyms

Gm4788

MMRRC Submission

044989-MU

Accession Numbers

Essential gene?

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

Stock #

R6895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139625657-139708977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139668210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 308 (P308S)

Ref Sequence

ENSEMBL: ENSMUSP00000107617 (fasta)

Gene Model

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

AlphaFold

E9Q8B5

Predicted Effect

probably benign
Transcript: ENSMUST00000027612
AA Change: P308S

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: P308S

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: P308S

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: P308S

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 benign
Transcript: ENSMUST00000111989
AA Change: P308S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: P308S

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: 99.3%
20x: 97.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	A	G	18: 12,394,046 (GRCm39)	V256A	probably benign	Het
Arid4a	A	G	12: 71,110,076 (GRCm39)	D139G	probably benign	Het
AU040320	T	C	4: 126,685,723 (GRCm39)	W100R	probably damaging	Het
C4bp	T	C	1: 130,563,943 (GRCm39)	*470W	probably null	Het
Capn8	C	A	1: 182,456,234 (GRCm39)	D661E	possibly damaging	Het
Car14	T	C	3: 95,805,472 (GRCm39)	T334A	probably benign	Het
Chd6	T	A	2: 160,830,260 (GRCm39)	T1012S	probably damaging	Het
Csmd3	T	C	15: 47,529,910 (GRCm39)		probably null	Het
Dnaaf2	A	G	12: 69,244,437 (GRCm39)	V208A	probably benign	Het
Dnah11	A	G	12: 117,958,926 (GRCm39)	W2986R	probably damaging	Het
Epb42	G	A	2: 120,867,104 (GRCm39)		probably benign	Het
Fam120a	A	G	13: 49,045,497 (GRCm39)	F780L	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Grid2	T	C	6: 64,372,283 (GRCm39)	F655S	probably damaging	Het
Homer3	T	C	8: 70,737,955 (GRCm39)	S2P	probably damaging	Het
Hydin	T	C	8: 111,038,883 (GRCm39)	V207A	probably benign	Het
Inpp5j	T	C	11: 3,445,557 (GRCm39)		probably null	Het
Jak1	C	T	4: 101,011,734 (GRCm39)		probably null	Het
Jmjd1c	A	G	10: 67,052,869 (GRCm39)	I220V	probably benign	Het
Kat6a	T	G	8: 23,425,799 (GRCm39)	S1115A	possibly damaging	Het
Larp4	T	G	15: 99,905,611 (GRCm39)		probably null	Het
Lrrc72	T	G	12: 36,259,717 (GRCm39)	D43A	probably damaging	Het
Mptx2	A	C	1: 173,105,252 (GRCm39)	V13G	probably benign	Het
Nmbr	A	T	10: 14,645,704 (GRCm39)	*258Y	probably null	Het
Nup210l	C	T	3: 90,067,231 (GRCm39)	A757V	probably damaging	Het
Nup62	A	G	7: 44,479,157 (GRCm39)	K391E	possibly damaging	Het
Nup93	T	A	8: 94,970,314 (GRCm39)	I71K	probably damaging	Het
Or14a256	A	T	7: 86,265,323 (GRCm39)	C177S	probably damaging	Het
Or8b51	A	C	9: 38,569,385 (GRCm39)	L101R	probably damaging	Het
Pik3cg	A	G	12: 32,254,346 (GRCm39)	M547T	possibly damaging	Het
Ropn1	A	T	16: 34,497,668 (GRCm39)	I187F	possibly damaging	Het
Rtp3	T	C	9: 110,816,264 (GRCm39)	R96G	possibly damaging	Het
Sfrp5	A	T	19: 42,188,227 (GRCm39)	S197R	probably damaging	Het
Slc12a6	A	G	2: 112,185,440 (GRCm39)	H903R	probably damaging	Het
Slc26a3	G	T	12: 31,513,523 (GRCm39)	A482S	probably damaging	Het
Slc2a12	G	T	10: 22,568,084 (GRCm39)	A504S	probably damaging	Het
Slitrk5	C	A	14: 111,919,085 (GRCm39)	P903Q	probably damaging	Het
Tas2r123	A	T	6: 132,824,133 (GRCm39)	H10L	probably benign	Het
Tex46	T	C	4: 136,340,212 (GRCm39)	V99A	probably benign	Het
Top2b	T	C	14: 16,413,604 (GRCm38)	V1024A	probably benign	Het
Ugt2b36	G	A	5: 87,240,157 (GRCm39)	T76I	probably benign	Het
Usp31	G	T	7: 121,252,399 (GRCm39)	T747K	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly 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
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
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'- TGGCTGTGTATTGGTCACATAAAAC -3'
(R):5'- AGCTTTCCTGTGAATGTACTTGAG -3'

Sequencing Primer
(F):5'- GGTCACATAAAACATCTCCTTCATGG -3'
(R):5'- TGCAGCGTTCCCATTCTA -3'

Posted On

2018-11-06