Mutagenetix > Incidental Mutation

Incidental Mutation 'R7037:C1rl'

546765

Institutional Source

Beutler Lab

Gene Symbol

C1rl

Ensembl Gene

ENSMUSG00000038527

Gene Name

complement component 1, r subcomponent-like

Synonyms

C1rl1, C1r-LP

MMRRC Submission

045137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7037 (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 124485598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 323 (Y323C)

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: Y323C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: Y323C

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,266 (GRCm39)	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,740,712 (GRCm39)	V314D	probably damaging	Het
Arl14epl	T	G	18: 47,065,510 (GRCm39)	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,220,215 (GRCm39)	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	C	T	2: 59,764,014 (GRCm39)		probably null	Het
Bicral	T	C	17: 47,135,560 (GRCm39)	H550R	probably benign	Het
Ccr9	T	A	9: 123,609,036 (GRCm39)	H239Q	possibly damaging	Het
Cdh16	T	A	8: 105,344,267 (GRCm39)	R91*	probably null	Het
Coro1c	A	G	5: 113,983,457 (GRCm39)	F357S	possibly damaging	Het
Cpsf4	G	A	5: 145,112,939 (GRCm39)	R141Q	possibly damaging	Het
Cryzl2	G	A	1: 157,298,318 (GRCm39)	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,117 (GRCm39)	E247G	probably damaging	Het
Dbr1	T	A	9: 99,458,621 (GRCm39)		probably null	Het
Dclk1	T	C	3: 55,370,469 (GRCm39)	S23P	probably damaging	Het
Dpyd	A	T	3: 118,692,938 (GRCm39)	I361F	probably benign	Het
Elac2	A	G	11: 64,874,537 (GRCm39)	E218G	probably benign	Het
Eml4	T	A	17: 83,732,756 (GRCm39)	D136E	probably benign	Het
Foxred1	A	T	9: 35,118,844 (GRCm39)	S223T	probably benign	Het
Garin5b	G	T	7: 4,761,584 (GRCm39)		probably benign	Het
Gask1a	G	T	9: 121,794,592 (GRCm39)	V249L	possibly damaging	Het
Gm11595	A	G	11: 99,663,474 (GRCm39)	C69R	unknown	Het
Gna14	A	T	19: 16,511,128 (GRCm39)	H59L		Het
H2-Ab1	T	A	17: 34,486,963 (GRCm39)	I239N	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Itgb4	T	A	11: 115,896,391 (GRCm39)	Y1379*	probably null	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,764,504 (GRCm39)	D846E	probably benign	Het
Lyst	A	G	13: 13,791,251 (GRCm39)	H38R	probably damaging	Het
Mc3r	T	C	2: 172,091,554 (GRCm39)	F259L	probably damaging	Het
Med25	A	G	7: 44,532,206 (GRCm39)	Y384H	probably damaging	Het
Met	A	T	6: 17,547,127 (GRCm39)		probably benign	Het
Mmp16	T	C	4: 18,116,148 (GRCm39)	V584A	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,942 (GRCm39)	L203P	probably damaging	Het
Mus81	A	G	19: 5,536,108 (GRCm39)	L185P	probably damaging	Het
Naaa	A	G	5: 92,424,934 (GRCm39)	V75A	possibly damaging	Het
Obscn	T	A	11: 58,934,755 (GRCm39)	T5292S	probably damaging	Het
Obscn	T	C	11: 58,943,430 (GRCm39)	S4801G	probably damaging	Het
Or2ag19	T	C	7: 106,444,543 (GRCm39)	S242P	probably damaging	Het
Otof	T	C	5: 30,538,882 (GRCm39)	D1112G	probably benign	Het
Pals1	T	A	12: 78,843,973 (GRCm39)	I59N	probably damaging	Het
Pbx4	A	G	8: 70,317,525 (GRCm39)	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plce1	A	T	19: 38,690,461 (GRCm39)	D715V	probably damaging	Het
Pms1	T	C	1: 53,246,770 (GRCm39)	T311A	possibly damaging	Het
Popdc2	A	G	16: 38,194,629 (GRCm39)	D350G	probably damaging	Het
Prex1	A	G	2: 166,429,100 (GRCm39)	V661A	probably benign	Het
Ptbp2	A	G	3: 119,545,557 (GRCm39)	Y130H	probably damaging	Het
Rev3l	C	T	10: 39,727,971 (GRCm39)	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,147,185 (GRCm39)	R75K	probably null	Het
Ryr3	T	A	2: 112,779,475 (GRCm39)	R259*	probably null	Het
Scai	A	T	2: 39,080,633 (GRCm39)	S8T	probably benign	Het
Scn4a	C	A	11: 106,211,726 (GRCm39)	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,993 (GRCm39)	K1035R	probably damaging	Het
Siah3	A	G	14: 75,763,025 (GRCm39)	H92R	probably benign	Het
Smc4	G	A	3: 68,925,528 (GRCm39)	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,848,138 (GRCm39)	C1330Y	possibly damaging	Het
St18	C	A	1: 6,873,260 (GRCm39)	H332N	possibly damaging	Het
Sycp1	T	A	3: 102,806,250 (GRCm39)	E480D	possibly damaging	Het
Tex14	A	T	11: 87,388,741 (GRCm39)	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,114,107 (GRCm39)		probably null	Het
Tmem241	G	T	18: 12,246,463 (GRCm39)	H62Q	probably benign	Het
Tmem54	T	A	4: 129,004,594 (GRCm39)		probably null	Het
Tomm34	A	G	2: 163,912,398 (GRCm39)	L39P	probably damaging	Het
Triml2	T	A	8: 43,646,573 (GRCm39)	V354D	probably damaging	Het
Usp19	T	C	9: 108,374,157 (GRCm39)	I738T	possibly damaging	Het
Utp25	A	C	1: 192,803,031 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,702,514 (GRCm39)		probably null	Het
Zfp1005	G	T	2: 150,108,376 (GRCm39)	V46F	possibly 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
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
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'- GCTAAACTGGGCAACTTCCC -3'
(R):5'- CAACTTTGTTGTTAACCAGCCC -3'

Sequencing Primer
(F):5'- AGCCTTCACCAGCATCTATGG -3'
(R):5'- GTTGTTAACCAGCCCATCTCCAC -3'

Posted On

2019-05-13