Mutagenetix > Incidental Mutation

Incidental Mutation 'R5414:C1rl'

427631

Institutional Source

Beutler Lab

Gene Symbol

C1rl

Ensembl Gene

ENSMUSG00000038527

Gene Name

complement component 1, r subcomponent-like

Synonyms

C1rl1, C1r-LP

MMRRC Submission

042983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124470072-124487602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124485427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 266 (A266V)

Ref Sequence

ENSEMBL: ENSMUSP00000042883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049124] [ENSMUST00000068593]

AlphaFold

Q3UZ09

Predicted Effect

probably damaging
Transcript: ENSMUST00000049124
AA Change: A266V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: A266V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068593

SMART Domains

Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172

Domain	Start	End	E-Value	Type
CUB	14	140	1.56e-35	SMART
EGF_CA	141	189	1.88e-10	SMART
CUB	192	304	4.74e-35	SMART
CCP	308	370	5.56e-9	SMART
CCP	375	446	1.53e-6	SMART
Tryp_SPc	462	699	2.7e-71	SMART

Meta Mutation Damage Score

0.3235

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,205,448 (GRCm39)	S278P	probably damaging	Het
Acan	A	G	7: 78,750,736 (GRCm39)	T1836A	probably benign	Het
Akr1c18	T	A	13: 4,186,734 (GRCm39)	D238V	probably damaging	Het
Akt3	A	G	1: 176,877,817 (GRCm39)	V317A	probably damaging	Het
Atp2b2	G	A	6: 113,819,102 (GRCm39)	P64S	probably damaging	Het
Atr	A	G	9: 95,752,757 (GRCm39)	N609S	probably benign	Het
Bcat1	A	G	6: 144,961,173 (GRCm39)		probably null	Het
Cd34	A	G	1: 194,630,219 (GRCm39)	E51G	probably benign	Het
Celsr3	A	G	9: 108,717,241 (GRCm39)	E2161G	possibly damaging	Het
Clec2h	G	T	6: 128,651,749 (GRCm39)	A153S	probably benign	Het
Cnih1	T	C	14: 47,016,440 (GRCm39)	T105A	probably benign	Het
Coro1c	A	G	5: 113,986,607 (GRCm39)	I279T	possibly damaging	Het
Ddx11	A	G	17: 66,455,763 (GRCm39)	T721A	probably benign	Het
Fbn2	C	A	18: 58,226,477 (GRCm39)	A766S	probably damaging	Het
Focad	C	T	4: 88,328,939 (GRCm39)		probably benign	Het
Galnt16	A	T	12: 80,630,822 (GRCm39)	D300V	probably damaging	Het
Gbp2b	T	C	3: 142,304,852 (GRCm39)	L96P	probably damaging	Het
Gm10192	T	C	4: 97,071,346 (GRCm39)	S20G	probably null	Het
Gm10288	T	C	3: 146,544,717 (GRCm39)		noncoding transcript	Het
Gm4181	C	T	14: 51,873,047 (GRCm39)		probably null	Het
Gm6327	T	A	16: 12,578,222 (GRCm39)		noncoding transcript	Het
Hfm1	A	G	5: 107,049,942 (GRCm39)	I409T	probably damaging	Het
Ibtk	T	C	9: 85,608,742 (GRCm39)	E390G	possibly damaging	Het
Ifit1bl1	T	A	19: 34,571,324 (GRCm39)	I378F	probably damaging	Het
Kcnh4	T	C	11: 100,637,722 (GRCm39)	D645G	probably damaging	Het
Krt33b	T	C	11: 99,920,612 (GRCm39)	T14A	probably benign	Het
Lrch3	T	A	16: 32,806,335 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,543,697 (GRCm39)	L226H	probably damaging	Het
Myo1e	C	A	9: 70,229,640 (GRCm39)		probably null	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nploc4	A	T	11: 120,304,469 (GRCm39)	Y251N	probably damaging	Het
Or4b12	T	C	2: 90,096,046 (GRCm39)	T243A	probably benign	Het
Pdk4	T	C	6: 5,485,499 (GRCm39)	I397V	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Pgm5	A	G	19: 24,686,689 (GRCm39)	I506T	probably damaging	Het
Pgs1	T	G	11: 117,905,502 (GRCm39)	I499S	probably damaging	Het
Ppp6r3	A	G	19: 3,557,330 (GRCm39)	S253P	probably damaging	Het
Prag1	C	G	8: 36,606,776 (GRCm39)	P839R	probably benign	Het
Rin3	C	T	12: 102,356,116 (GRCm39)	Q806*	probably null	Het
Ros1	T	C	10: 52,031,189 (GRCm39)	D484G	probably damaging	Het
Scamp5	A	G	9: 57,354,507 (GRCm39)	V49A	probably benign	Het
Sis	C	A	3: 72,859,826 (GRCm39)	V310L	probably benign	Het
Svep1	T	C	4: 58,206,322 (GRCm39)	T19A	possibly damaging	Het
Tcstv2b	A	C	13: 120,373,872 (GRCm39)	D139E	probably damaging	Het
Tenm3	A	C	8: 48,689,390 (GRCm39)	S2066A	probably damaging	Het
Thra	A	G	11: 98,651,783 (GRCm39)	I102V	probably benign	Het
Trim30a	A	C	7: 104,060,348 (GRCm39)	V476G	probably damaging	Het
Vmn2r3	T	A	3: 64,166,978 (GRCm39)	R718*	probably null	Het
Washc4	A	G	10: 83,391,967 (GRCm39)	T218A	possibly damaging	Het
Xrcc1	A	G	7: 24,269,643 (GRCm39)	Y401C	probably damaging	Het
Zfp629	T	C	7: 127,210,454 (GRCm39)	T452A	probably damaging	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
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
R8176:C1rl	UTSW	6	124,470,844 (GRCm39)	missense	probably benign	0.00
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'- AGGGTCTCTAATCTAATCTCTCACGG -3'
(R):5'- TGCTCAAGTTCCAGGAGAGC -3'

Sequencing Primer
(F):5'- AATCTAATCTCTCACGGTTGTTGATC -3'
(R):5'- TGCTCAAGTTCCAGGAGAGCAATATC -3'

Posted On

2016-09-01