Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:C1rl'

634341

Institutional Source

Beutler Lab

Gene Symbol

C1rl

Ensembl Gene

ENSMUSG00000038527

Gene Name

complement component 1, r subcomponent-like

Synonyms

C1rl1, C1r-LP

MMRRC Submission

067601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124470072-124487602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124470844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 51 (S51P)

Ref Sequence

ENSEMBL: ENSMUSP00000042883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049124]

AlphaFold

Q3UZ09

Predicted Effect

probably benign
Transcript: ENSMUST00000049124
AA Change: S51P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: S51P

Domain	Start	End	E-Value	Type
CUB	42	166	3.19e-18	SMART
Tryp_SPc	239	474	1.25e-52	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,235,135 (GRCm39)	F172I	noncoding transcript	Het
Aatk	A	G	11: 119,907,241 (GRCm39)	V154A	probably damaging	Het
Abca6	A	C	11: 110,135,020 (GRCm39)	V255G	probably benign	Het
Adam8	T	C	7: 139,568,786 (GRCm39)	K211E	probably benign	Het
Alg12	A	G	15: 88,690,084 (GRCm39)	V470A	possibly damaging	Het
Anks1b	C	A	10: 89,905,353 (GRCm39)	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,640,528 (GRCm39)	Y28C	probably damaging	Het
Bms1	G	T	6: 118,395,411 (GRCm39)	F45L	probably damaging	Het
Btd	T	A	14: 31,384,073 (GRCm39)	F20I	probably benign	Het
Capn7	C	A	14: 31,069,729 (GRCm39)	F184L	probably benign	Het
Cd300lg	A	T	11: 101,932,390 (GRCm39)		probably benign	Het
Cdc34	T	C	10: 79,518,362 (GRCm39)	Y39H	probably damaging	Het
Cenpe	A	G	3: 134,935,851 (GRCm39)	K429E	probably damaging	Het
Cfap43	T	C	19: 47,784,114 (GRCm39)	N473S	probably benign	Het
Cntln	C	T	4: 84,806,926 (GRCm39)	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,574,175 (GRCm39)	L1032F	probably benign	Het
Dach1	C	T	14: 98,153,916 (GRCm39)	V392I	probably benign	Het
Dnah14	C	T	1: 181,484,598 (GRCm39)	S1590L	probably damaging	Het
Dsp	T	C	13: 38,376,786 (GRCm39)	Y1524H	possibly damaging	Het
Dusp13b	T	C	14: 21,797,549 (GRCm39)	I103V	possibly damaging	Het
Eeig1	A	G	2: 32,453,624 (GRCm39)	T158A	probably benign	Het
Efhb	T	C	17: 53,707,874 (GRCm39)	Y763C	probably damaging	Het
Fam117a	G	T	11: 95,227,965 (GRCm39)	R25L	unknown	Het
Fcgbp	T	C	7: 27,791,174 (GRCm39)	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,964,965 (GRCm39)	N399K	probably benign	Het
Foxi3	T	A	6: 70,934,017 (GRCm39)	I168N	probably damaging	Het
Frem2	A	T	3: 53,562,761 (GRCm39)	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,582,266 (GRCm39)	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,460,429 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,422,286 (GRCm39)		probably null	Het
Hsf2	T	A	10: 57,381,290 (GRCm39)	Y293*	probably null	Het
Ints10	T	A	8: 69,255,603 (GRCm39)	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,001,957 (GRCm39)	E399G	probably damaging	Het
Itsn1	T	A	16: 91,645,597 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,285,122 (GRCm39)	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,597,387 (GRCm39)	T279A	probably benign	Het
Ly6a	C	T	15: 74,868,300 (GRCm39)		probably null	Het
Marchf4	T	C	1: 72,573,998 (GRCm39)	E100G	probably damaging	Het
Mta1	A	G	12: 113,084,456 (GRCm39)	E84G	probably benign	Het
Myh7b	A	G	2: 155,467,886 (GRCm39)	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,317,858 (GRCm39)	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,126,977 (GRCm39)	S428P	probably damaging	Het
Onecut2	A	T	18: 64,473,931 (GRCm39)	T161S	possibly damaging	Het
Or10j27	C	T	1: 172,958,383 (GRCm39)	V134I	probably benign	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or6c5	T	G	10: 129,074,747 (GRCm39)	M243R	probably benign	Het
Pdp2	A	G	8: 105,321,687 (GRCm39)	D512G	probably damaging	Het
Pex11b	G	T	3: 96,551,027 (GRCm39)	V171L	probably benign	Het
Potefam2	T	C	7: 62,432,783 (GRCm39)		probably null	Het
Ppil3	A	T	1: 58,480,078 (GRCm39)	C32*	probably null	Het
Prune2	T	C	19: 17,095,656 (GRCm39)	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,677,605 (GRCm39)	H518N	possibly damaging	Het
Rhot2	T	C	17: 26,063,068 (GRCm39)	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,362,981 (GRCm39)	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,056,252 (GRCm39)	D812G	possibly damaging	Het
Skap2	T	C	6: 51,884,878 (GRCm39)	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,865,117 (GRCm39)	N755S	probably benign	Het
Stat5a	T	A	11: 100,767,689 (GRCm39)	M419K	probably damaging	Het
Tecta	C	T	9: 42,270,465 (GRCm39)	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,374,913 (GRCm39)	S196R	probably benign	Het
Trpm8	A	T	1: 88,292,837 (GRCm39)	H946L	probably benign	Het

Other mutations in C1rl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02435:C1rl	APN	6	124,485,832 (GRCm39)	missense	probably damaging	1.00
IGL02549:C1rl	APN	6	124,470,796 (GRCm39)	missense	possibly damaging	0.76
IGL02581:C1rl	APN	6	124,470,113 (GRCm39)	missense	possibly damaging	0.83
IGL02642:C1rl	APN	6	124,470,806 (GRCm39)	missense	possibly damaging	0.60
IGL02950:C1rl	APN	6	124,485,820 (GRCm39)	missense	probably damaging	1.00
IGL02980:C1rl	UTSW	6	124,485,487 (GRCm39)	missense	probably benign	0.00
R0699:C1rl	UTSW	6	124,485,595 (GRCm39)	missense	probably benign	0.14
R0848:C1rl	UTSW	6	124,485,465 (GRCm39)	missense	probably benign	0.29
R1221:C1rl	UTSW	6	124,470,940 (GRCm39)	missense	probably benign	0.43
R1654:C1rl	UTSW	6	124,470,869 (GRCm39)	missense	probably damaging	0.97
R1957:C1rl	UTSW	6	124,486,021 (GRCm39)	missense	probably damaging	1.00
R2055:C1rl	UTSW	6	124,470,781 (GRCm39)	missense	probably benign	0.01
R2120:C1rl	UTSW	6	124,485,672 (GRCm39)	missense	probably damaging	0.99
R2262:C1rl	UTSW	6	124,483,907 (GRCm39)	missense	probably damaging	0.99
R2363:C1rl	UTSW	6	124,486,069 (GRCm39)	missense	probably benign	0.13
R3933:C1rl	UTSW	6	124,485,781 (GRCm39)	nonsense	probably null
R4824:C1rl	UTSW	6	124,486,040 (GRCm39)	nonsense	probably null
R5228:C1rl	UTSW	6	124,485,427 (GRCm39)	missense	probably damaging	1.00
R5414:C1rl	UTSW	6	124,485,427 (GRCm39)	missense	probably damaging	1.00
R6008:C1rl	UTSW	6	124,470,147 (GRCm39)	missense	probably benign	0.00
R6467:C1rl	UTSW	6	124,485,535 (GRCm39)	missense	probably benign	0.03
R6549:C1rl	UTSW	6	124,485,487 (GRCm39)	missense	probably benign	0.00
R6609:C1rl	UTSW	6	124,485,583 (GRCm39)	missense	probably benign	0.44
R6998:C1rl	UTSW	6	124,485,861 (GRCm39)	missense	probably damaging	1.00
R7037:C1rl	UTSW	6	124,485,598 (GRCm39)	missense	probably damaging	1.00
R8706:C1rl	UTSW	6	124,470,191 (GRCm39)	critical splice donor site	probably null
R9274:C1rl	UTSW	6	124,485,483 (GRCm39)	missense	probably benign	0.00
R9335:C1rl	UTSW	6	124,482,341 (GRCm39)	missense	probably benign	0.00
R9425:C1rl	UTSW	6	124,485,322 (GRCm39)	missense	probably benign	0.02
R9513:C1rl	UTSW	6	124,485,802 (GRCm39)	missense	probably damaging	0.96
R9516:C1rl	UTSW	6	124,485,802 (GRCm39)	missense	probably damaging	0.96
R9523:C1rl	UTSW	6	124,484,054 (GRCm39)	missense	probably benign
Z1088:C1rl	UTSW	6	124,485,701 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGGTATCCAGAAGTGCCC -3'
(R):5'- TTGTCCAGCTCACTGTGACAG -3'

Sequencing Primer
(F):5'- GGACACAACTGCTAGTCCCTAAG -3'
(R):5'- TGACAGAGTCGCCTTCACAGTC -3'

Posted On

2020-07-13