Mutagenetix > Incidental Mutations

Incidental Mutation 'R0334:C6'

26169

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022181

Gene Name

complement component 6

Synonyms

MMRRC Submission

038543-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4727175-4814967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4755367 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 238 (N238K)

Ref Sequence

ENSEMBL: ENSMUSP00000125358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022788] [ENSMUST00000161997] [ENSMUST00000162350] [ENSMUST00000162585]

Predicted Effect

probably benign
Transcript: ENSMUST00000022788
AA Change: N238K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: N238K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
MACPF	312	516	1.89e-59	SMART
TSP1	568	617	3.9e-7	SMART
CCP	644	699	1.21e-9	SMART
CCP	704	761	3.56e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161997
AA Change: N238K

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125358
Gene: ENSMUSG00000022181
AA Change: N238K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
Blast:TSP1	197	223	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162350
AA Change: N238K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: N238K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
MACPF	312	516	1.89e-59	SMART
TSP1	568	617	3.9e-7	SMART
CCP	644	699	1.21e-9	SMART
CCP	704	761	3.56e-7	SMART
Blast:FIMAC	859	931	1e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162585
AA Change: N238K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: N238K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
MACPF	312	516	1.89e-59	SMART
TSP1	568	617	3.9e-7	SMART
CCP	644	699	1.21e-9	SMART
CCP	704	761	3.56e-7	SMART

Meta Mutation Damage Score

0.1509

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit decreased susceptibility to ischemia reperfusion-induced renal injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,617,129		probably benign	Het
Aggf1	T	C	13: 95,371,597	N87S	probably benign	Het
Ap2b1	T	C	11: 83,367,874		probably benign	Het
Arfgef3	A	G	10: 18,592,281	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,583,926	Q243*	probably null	Het
Atp8a2	A	T	14: 59,691,512	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,114,760		probably null	Het
Brinp2	G	T	1: 158,295,585	T37K	probably benign	Het
Bsph1	T	A	7: 13,450,939	L9*	probably null	Het
Cbs	T	C	17: 31,619,156	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,969,370	F191S	possibly damaging	Het
Cpz	A	G	5: 35,503,681	V530A	probably damaging	Het
Ctsc	G	T	7: 88,278,342	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,103,796	Y53S	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Defb4	T	C	8: 19,201,204	I29T	probably benign	Het
Disc1	A	T	8: 125,261,097		probably null	Het
Dnah2	A	G	11: 69,436,836	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,433,054	I3518N	possibly damaging	Het
Dnah8	A	T	17: 30,871,351	H4609L	probably damaging	Het
Evi5	C	A	5: 107,820,535	C182F	probably damaging	Het
Fam149b	G	A	14: 20,363,424	R237H	probably damaging	Het
Fut8	T	A	12: 77,393,762	D174E	possibly damaging	Het
Ghr	T	C	15: 3,341,098		probably benign	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm12794	T	C	4: 101,941,584	F251L	probably benign	Het
Gm8882	T	A	6: 132,364,058	Q17L	unknown	Het
Gm9573	A	G	17: 35,622,722		probably benign	Het
Gpr176	T	C	2: 118,279,708	S357G	probably benign	Het
Grwd1	A	T	7: 45,827,177		probably null	Het
H2-T24	A	G	17: 36,014,880	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,956,038		probably benign	Het
Herc3	A	G	6: 58,918,817	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 193,242,168		probably benign	Het
Igsf23	T	C	7: 19,941,753	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,617,906	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,198,359		probably null	Het
Kdm5b	A	G	1: 134,604,522	I479M	probably damaging	Het
Kidins220	A	G	12: 25,008,069	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,552,329	I216S	probably damaging	Het
Myo1g	A	G	11: 6,511,084		probably benign	Het
Nrxn3	T	C	12: 89,813,642		probably null	Het
Olfr706	A	G	7: 106,886,415	V134A	probably benign	Het
Olfr921	A	T	9: 38,775,239		probably null	Het
Olfr943	A	G	9: 39,184,684	I169V	probably benign	Het
Pdia5	A	T	16: 35,464,390	S66T	possibly damaging	Het
Plec	T	C	15: 76,178,006	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,282,180	A654S	probably benign	Het
Pnpla2	G	A	7: 141,459,520		probably null	Het
Prkdc	A	G	16: 15,736,799	D2128G	probably benign	Het
Rabggta	A	T	14: 55,720,811	L131Q	probably damaging	Het
Rbks	A	T	5: 31,624,519	Y312*	probably null	Het
Rnf139	A	G	15: 58,899,473	Y449C	probably damaging	Het
Sbno1	A	G	5: 124,386,868	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,557,301	N321I	probably damaging	Het
Slit3	T	A	11: 35,579,101	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,680,824	S627P	probably benign	Het
Stat2	T	A	10: 128,277,867	F172I	probably damaging	Het
Tchh	C	A	3: 93,445,616	R788S	unknown	Het
Tnks	T	A	8: 34,853,259	K753*	probably null	Het
Trank1	T	A	9: 111,365,353	V815D	probably benign	Het
Trank1	T	A	9: 111,392,940	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,343	S271P	probably damaging	Het
Trpm5	T	C	7: 143,086,876	Q213R	probably benign	Het
Ulk3	C	T	9: 57,594,227		probably benign	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,256,318	S181P	probably damaging	Het
Yipf3	T	C	17: 46,248,312	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,986,556	H1094Q	probably damaging	Het

Other mutations in C6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:C6	APN	15	4759967	missense	possibly damaging	0.53
IGL00918:C6	APN	15	4735257	missense	possibly damaging	0.90
IGL01615:C6	APN	15	4781896	missense	probably benign	0.00
IGL01637:C6	APN	15	4759917	missense	possibly damaging	0.69
IGL01662:C6	APN	15	4792754	missense	probably damaging	1.00
IGL02293:C6	APN	15	4755303	missense	probably benign	0.01
IGL02431:C6	APN	15	4759861	nonsense	probably null
IGL02568:C6	APN	15	4791164	nonsense	probably null
IGL02688:C6	APN	15	4798320	missense	probably benign	0.00
IGL02737:C6	APN	15	4796914	missense	probably benign	0.30
R0195:C6	UTSW	15	4763471	missense	probably benign	0.01
R0879:C6	UTSW	15	4763336	splice site	probably benign
R0940:C6	UTSW	15	4735235	missense	probably benign	0.12
R1342:C6	UTSW	15	4739749	splice site	probably benign
R1649:C6	UTSW	15	4735257	missense	possibly damaging	0.90
R1709:C6	UTSW	15	4790970	missense	probably benign	0.34
R1967:C6	UTSW	15	4759820	missense	probably damaging	0.99
R2068:C6	UTSW	15	4791070	missense	probably damaging	1.00
R3056:C6	UTSW	15	4739873	missense	probably damaging	0.99
R3791:C6	UTSW	15	4735235	missense	probably benign	0.00
R3821:C6	UTSW	15	4789584	missense	probably benign	0.23
R3895:C6	UTSW	15	4808470	missense	probably benign	0.00
R4178:C6	UTSW	15	4735139	missense	probably benign	0.02
R4440:C6	UTSW	15	4735251	missense	possibly damaging	0.90
R4598:C6	UTSW	15	4763370	missense	possibly damaging	0.55
R4632:C6	UTSW	15	4759868	missense	probably benign	0.01
R4756:C6	UTSW	15	4781912	missense	probably benign
R4879:C6	UTSW	15	4803647	splice site	probably null
R5452:C6	UTSW	15	4814829	missense	possibly damaging	0.51
R5538:C6	UTSW	15	4814829	missense	possibly damaging	0.84
R5547:C6	UTSW	15	4808488	missense	probably benign	0.00
R5790:C6	UTSW	15	4763486	missense	probably damaging	1.00
R5862:C6	UTSW	15	4735263	missense	possibly damaging	0.66
R5946:C6	UTSW	15	4808514	missense	possibly damaging	0.96
R6049:C6	UTSW	15	4735172	missense	probably damaging	1.00
R6247:C6	UTSW	15	4763541	missense	probably damaging	1.00
R6438:C6	UTSW	15	4796983	missense	possibly damaging	0.94
R6873:C6	UTSW	15	4790979	missense	probably benign	0.03
R7052:C6	UTSW	15	4733695	missense	probably damaging	0.97
R7302:C6	UTSW	15	4796950	missense	probably damaging	1.00
R7361:C6	UTSW	15	4796922	nonsense	probably null
R7481:C6	UTSW	15	4814875	missense
R7492:C6	UTSW	15	4731714	missense	probably benign	0.00
R7498:C6	UTSW	15	4763364	missense	probably damaging	1.00
R7569:C6	UTSW	15	4789581	missense	probably benign	0.01
R7653:C6	UTSW	15	4814762	missense
R7666:C6	UTSW	15	4789505	missense	probably damaging	0.99
R7843:C6	UTSW	15	4808404	missense
R8073:C6	UTSW	15	4735193	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TCTTTCTGAGTCAATAGGGCTGGGT -3'
(R):5'- GCACTGCACTGTGCTGCTTATTACT -3'

Sequencing Primer
(F):5'- GGAAAAAATGAGCCTTCCTCTG -3'
(R):5'- actcatccttttttccccttcc -3'

Posted On

2013-04-16