Mutagenetix > Incidental Mutation

Incidental Mutation 'R1341:Cfhr4'

157025

Institutional Source

Beutler Lab

Gene Symbol

Cfhr4

Ensembl Gene

ENSMUSG00000070594

Gene Name

complement factor H-related 4

Synonyms

Gm4788

MMRRC Submission

039406-MU

Accession Numbers

Essential gene?

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

Stock #

R1341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139625657-139708977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139660131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 665 (T665S)

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: T594S

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: T594S

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: T665S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: T665S

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: T665S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: T665S

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

0.3585

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.9%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v0e2	A	G	6: 48,517,045 (GRCm39)	Y75C	probably benign	Het
Bltp3a	T	C	17: 28,096,393 (GRCm39)		probably benign	Het
Cacna1g	A	G	11: 94,324,582 (GRCm39)	L1190P	probably damaging	Het
Ccdc190	A	G	1: 169,757,586 (GRCm39)	D15G	probably damaging	Het
Cep126	G	T	9: 8,099,777 (GRCm39)	P919Q	possibly damaging	Het
Chchd6	A	G	6: 89,361,623 (GRCm39)	V260A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cramp1	T	C	17: 25,196,514 (GRCm39)	K867E	probably damaging	Het
Dnah6	A	T	6: 73,168,602 (GRCm39)	N440K	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm17421	A	T	12: 113,333,334 (GRCm39)		noncoding transcript	Het
H2bc13	T	C	13: 21,900,280 (GRCm39)	K12E	probably benign	Het
Hdac3	A	G	18: 38,087,766 (GRCm39)	V36A	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Itga10	G	A	3: 96,559,811 (GRCm39)	E489K	probably damaging	Het
Mgat5b	A	C	11: 116,869,223 (GRCm39)	I589L	probably benign	Het
Mindy4	A	G	6: 55,232,601 (GRCm39)	N348S	probably benign	Het
Mmp15	A	G	8: 96,098,931 (GRCm39)	D586G	probably benign	Het
Mmp9	A	G	2: 164,791,247 (GRCm39)	D139G	probably damaging	Het
Morc2a	C	A	11: 3,630,216 (GRCm39)	L471I	possibly damaging	Het
Mycbp2	T	A	14: 103,536,303 (GRCm39)		probably benign	Het
Mylip	T	A	13: 45,559,412 (GRCm39)	S105T	probably damaging	Het
Nat8f4	A	T	6: 85,878,406 (GRCm39)	L39Q	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Obscn	T	C	11: 58,920,198 (GRCm39)		probably benign	Het
Or10ak13	T	C	4: 118,639,579 (GRCm39)	T68A	probably benign	Het
Or11m3	G	A	15: 98,396,135 (GRCm39)	V261M	possibly damaging	Het
Or51k2	T	A	7: 103,596,589 (GRCm39)	V272D	possibly damaging	Het
Or5t7	T	C	2: 86,507,507 (GRCm39)	M57V	possibly damaging	Het
Or9k2	G	T	10: 129,999,185 (GRCm39)	D3E	probably benign	Het
Pramel29	T	C	4: 143,934,129 (GRCm39)	D326G	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Rab11fip1	G	T	8: 27,633,388 (GRCm39)	A1106E	probably damaging	Het
Rfc1	A	G	5: 65,448,537 (GRCm39)	S363P	probably damaging	Het
Skint10	A	G	4: 112,622,228 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,196,711 (GRCm39)	N3595D	possibly damaging	Het
Swsap1	A	G	9: 21,868,450 (GRCm39)	K241E	probably benign	Het
Tab1	A	G	15: 80,044,315 (GRCm39)	T448A	possibly damaging	Het
Tktl1	G	T	X: 73,241,289 (GRCm39)	G302V	probably damaging	Het
Usp25	A	G	16: 76,912,331 (GRCm39)	T1017A	probably benign	Het
Vmn2r78	T	A	7: 86,571,477 (GRCm39)	M429K	possibly damaging	Het
Wdr49	A	T	3: 75,336,640 (GRCm39)	F356I	probably damaging	Het
Wnt1	T	C	15: 98,689,764 (GRCm39)	F184L	probably damaging	Het
Yy1	T	C	12: 108,759,445 (GRCm39)	I36T	unknown	Het
Zbtb39	A	G	10: 127,579,369 (GRCm39)	I648V	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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCAGCATCCAGAGCTATGCAG -3'
(R):5'- ATGTGGTATTAGGAAGCATTTCCCACC -3'

Sequencing Primer
(F):5'- TGCAGCAAAACCTTCTTATATGC -3'
(R):5'- CTGATGGCACATTTTGCTTATTAAC -3'

Posted On

2014-02-11