Mutagenetix > Incidental Mutation

Incidental Mutation 'R9274:C1rl'

703158

Institutional Source

Beutler Lab

Gene Symbol

C1rl

Ensembl Gene

ENSMUSG00000038527

Gene Name

complement component 1, r subcomponent-like

Synonyms

C1rl1, C1r-LP

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124470072-124487602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124485483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 285 (S285G)

Ref Sequence

ENSEMBL: ENSMUSP00000042883 (fasta)

Gene Model

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

AlphaFold

Q3UZ09

Predicted Effect

probably benign
Transcript: ENSMUST00000049124
AA Change: S285G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: S285G

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

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	A	T	2: 113,879,752 (GRCm39)	S236T	probably benign	Het
Adam30	A	G	3: 98,069,267 (GRCm39)	T239A	probably benign	Het
Aoc1l2	T	C	6: 48,907,341 (GRCm39)	F114L	possibly damaging	Het
Ascl2	G	A	7: 142,521,753 (GRCm39)	R232C	probably damaging	Het
Atp10a	C	A	7: 58,478,369 (GRCm39)	Q1471K	probably benign	Het
Avl9	T	A	6: 56,720,346 (GRCm39)	D461E	probably damaging	Het
Baiap3	T	A	17: 25,463,354 (GRCm39)	Y983F	probably damaging	Het
Cacna1i	G	A	15: 80,254,354 (GRCm39)	V772M	probably damaging	Het
Ccser2	T	A	14: 36,660,737 (GRCm39)	D472V	possibly damaging	Het
Cd244a	T	G	1: 171,401,928 (GRCm39)	V218G	probably benign	Het
Cdhr1	T	C	14: 36,802,564 (GRCm39)	K633R	probably benign	Het
Col14a1	A	G	15: 55,381,671 (GRCm39)	Q1748R	probably damaging	Het
Col6a3	T	A	1: 90,707,020 (GRCm39)	Y2638F	unknown	Het
Crnkl1	A	T	2: 145,765,836 (GRCm39)	F411L	probably damaging	Het
Crp	T	A	1: 172,526,072 (GRCm39)	F52L	possibly damaging	Het
Dnah12	A	G	14: 26,537,374 (GRCm39)	N2208D	probably benign	Het
Exd2	T	C	12: 80,539,674 (GRCm39)		probably null	Het
F13a1	A	T	13: 37,052,761 (GRCm39)	I726N	probably damaging	Het
Fmo6	G	A	1: 162,747,921 (GRCm39)	T381I	probably benign	Het
Gdpd5	T	C	7: 99,107,989 (GRCm39)	L522P	probably damaging	Het
Gm12790	T	A	4: 101,824,743 (GRCm39)	D175V	possibly damaging	Het
Gm3543	T	C	14: 41,802,125 (GRCm39)	R120G	probably damaging	Het
Gpatch2	T	A	1: 186,963,029 (GRCm39)	D273E	probably damaging	Het
Hlcs	A	G	16: 94,088,785 (GRCm39)	S66P	possibly damaging	Het
Hmcn1	T	C	1: 150,506,046 (GRCm39)	T3827A	probably benign	Het
Ism2	G	A	12: 87,331,827 (GRCm39)	Q237*	probably null	Het
Jph2	G	A	2: 163,239,547 (GRCm39)		probably benign	Het
Kcnb2	A	G	1: 15,781,723 (GRCm39)	Q865R	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnk9	A	G	15: 72,384,224 (GRCm39)	V318A	unknown	Het
Lemd3	G	A	10: 120,814,717 (GRCm39)	A172V	possibly damaging	Het
Lifr	G	T	15: 7,217,591 (GRCm39)	A840S	probably damaging	Het
Lnpep	T	C	17: 17,758,837 (GRCm39)	T836A	probably benign	Het
Mapk13	A	G	17: 28,988,490 (GRCm39)	Y36C	probably damaging	Het
Mdm2	G	A	10: 117,541,081 (GRCm39)		probably benign	Het
Msmb	T	C	14: 31,870,130 (GRCm39)	M34T	probably benign	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Myot	T	A	18: 44,479,265 (GRCm39)	V334E	probably damaging	Het
Nalcn	A	G	14: 123,753,068 (GRCm39)	I306T	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,640,056 (GRCm39)	Y981H	probably benign	Het
Nphs2	G	A	1: 156,144,416 (GRCm39)	R140Q	probably damaging	Het
Nsa2	C	T	13: 97,272,170 (GRCm39)	R17H	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Obox6	T	C	7: 15,567,766 (GRCm39)	H227R	possibly damaging	Het
Or10ak14	G	A	4: 118,610,883 (GRCm39)	A286V	probably benign	Het
Or1j14	T	C	2: 36,417,559 (GRCm39)	I45T	probably damaging	Het
Or4c1	A	C	2: 89,133,513 (GRCm39)	L141R	probably damaging	Het
P2rx2	C	T	5: 110,489,709 (GRCm39)	G202D	probably damaging	Het
Pcdh12	A	G	18: 38,415,950 (GRCm39)	W392R	probably damaging	Het
Plxna2	G	A	1: 194,471,136 (GRCm39)	G969D	probably damaging	Het
Prg4	T	C	1: 150,331,924 (GRCm39)	T250A	possibly damaging	Het
Rad54l	G	T	4: 115,967,667 (GRCm39)	P205Q	probably damaging	Het
Ralgapb	A	G	2: 158,278,539 (GRCm39)	I334M	probably damaging	Het
Ric3	C	T	7: 108,647,212 (GRCm39)	D204N	probably damaging	Het
Rnf10	A	T	5: 115,385,322 (GRCm39)	Y557*	probably null	Het
Ruvbl1	A	G	6: 88,474,334 (GRCm39)	I446V	probably benign	Het
Serinc3	A	T	2: 163,468,371 (GRCm39)	V361D	probably damaging	Het
Slc4a1	C	A	11: 102,242,047 (GRCm39)	V864L	probably benign	Het
Slf1	C	A	13: 77,191,669 (GRCm39)	*1055L	probably null	Het
Stk25	T	C	1: 93,552,806 (GRCm39)	S328G	probably benign	Het
Stpg1	T	C	4: 135,252,782 (GRCm39)	F178L	possibly damaging	Het
Tmem25	C	T	9: 44,706,336 (GRCm39)	R345H	probably benign	Het
Tssk1	A	T	16: 17,712,724 (GRCm39)	I170L	probably benign	Het
Tubg1	A	G	11: 101,017,241 (GRCm39)		probably benign	Het
Uchl3	A	G	14: 101,903,240 (GRCm39)	D33G	probably damaging	Het
Vmn1r152	A	T	7: 22,223,056 (GRCm39)	H222L	probably benign	Het
Zfp975	C	T	7: 42,312,299 (GRCm39)	V105I	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
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
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'- GGGTCTCTAATCTAATCTCTCACGG -3'
(R):5'- TGCTCAAGTTCCAGGAGAGC -3'

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

Posted On

2022-03-25