Mutagenetix > Incidental Mutation

Incidental Mutation 'R5932:Crls1'

461898

Institutional Source

Beutler Lab

Gene Symbol

Crls1

Ensembl Gene

ENSMUSG00000027357

Gene Name

cardiolipin synthase 1

Synonyms

0610009I22Rik, 4930557M15Rik, 5730490M08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132688586-132708705 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 132706087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 170 (Y170*)

Ref Sequence

ENSEMBL: ENSMUSP00000129137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028835] [ENSMUST00000049787] [ENSMUST00000110122] [ENSMUST00000124834] [ENSMUST00000124836] [ENSMUST00000154160]

AlphaFold

Q80ZM8

Predicted Effect

probably null
Transcript: ENSMUST00000028835
AA Change: Y270*

SMART Domains

Protein: ENSMUSP00000028835
Gene: ENSMUSG00000027357
AA Change: Y270*

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	71	93	N/A	INTRINSIC
Pfam:CDP-OH_P_transf	107	288	1.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049787

SMART Domains

Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRR	105	126	7.36e0	SMART
LRR_TYP	128	151	3.44e-4	SMART
LRR	153	175	1.19e1	SMART
LRR	176	199	1.53e1	SMART
LRR	205	228	2.03e1	SMART
LRR	229	253	3.36e2	SMART
LRRCT	311	363	6.92e-2	SMART
low complexity region	520	530	N/A	INTRINSIC
FN3	577	656	3.73e-10	SMART
transmembrane domain	679	701	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110122

SMART Domains

Protein: ENSMUSP00000105749
Gene: ENSMUSG00000027357

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	71	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124834

SMART Domains

Protein: ENSMUSP00000129509
Gene: ENSMUSG00000027357

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
low complexity region	71	93	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124836
AA Change: Y155*

SMART Domains

Protein: ENSMUSP00000132682
Gene: ENSMUSG00000027357
AA Change: Y155*

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	1	175	1.6e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000154160
AA Change: Y170*

SMART Domains

Protein: ENSMUSP00000129137
Gene: ENSMUSG00000027357
AA Change: Y170*

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	7	187	1.8e-15	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,870,518 (GRCm39)	S7T	possibly damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Akap1	A	G	11: 88,722,585 (GRCm39)	L890P	probably damaging	Het
Akap13	T	A	7: 75,259,932 (GRCm39)	M49K	probably damaging	Het
Ankrd17	A	T	5: 90,413,295 (GRCm39)	N1206K	probably damaging	Het
Bbs7	G	A	3: 36,636,847 (GRCm39)	T480I	probably benign	Het
Bbs9	A	G	9: 22,723,627 (GRCm39)	E769G	probably damaging	Het
Bpgm	T	A	6: 34,464,860 (GRCm39)	S192R	probably damaging	Het
Brinp1	C	A	4: 68,711,178 (GRCm39)	K343N	probably benign	Het
Cabyr	T	G	18: 12,887,407 (GRCm39)	V185G	probably damaging	Het
Cadm1	C	A	9: 47,710,749 (GRCm39)	D217E	probably damaging	Het
Camk1g	T	A	1: 193,036,347 (GRCm39)	E171V	probably benign	Het
Casz1	T	A	4: 149,023,570 (GRCm39)	M825K	possibly damaging	Het
Ccdc27	A	G	4: 154,111,231 (GRCm39)	V627A	probably benign	Het
Ccdc40	T	G	11: 119,141,838 (GRCm39)	I808R	probably damaging	Het
Cdh23	G	A	10: 60,228,763 (GRCm39)	R1140C	probably damaging	Het
Celsr1	A	G	15: 85,916,905 (GRCm39)	V356A	probably damaging	Het
Cep126	T	A	9: 8,103,509 (GRCm39)	D167V	probably damaging	Het
Chmp4b	C	T	2: 154,533,201 (GRCm39)	T147I	probably benign	Het
Clstn3	A	T	6: 124,415,291 (GRCm39)	M728K	probably benign	Het
Col7a1	A	T	9: 108,809,279 (GRCm39)	E2618V	unknown	Het
Cplane1	T	A	15: 8,274,079 (GRCm39)		probably null	Het
Dennd2b	G	A	7: 109,169,223 (GRCm39)	T24M	probably damaging	Het
Epas1	T	G	17: 87,135,074 (GRCm39)	I569S	possibly damaging	Het
Fhl3	T	C	4: 124,599,520 (GRCm39)	Y32H	probably damaging	Het
Fibp	G	A	19: 5,514,453 (GRCm39)	G333D	probably benign	Het
Frmd4a	C	T	2: 4,534,650 (GRCm39)	T156I	probably damaging	Het
Gcn1	T	C	5: 115,730,435 (GRCm39)	L873P	possibly damaging	Het
Gpr141b	C	A	13: 19,913,646 (GRCm39)		noncoding transcript	Het
Hectd3	G	A	4: 116,859,470 (GRCm39)	R698H	possibly damaging	Het
Il17a	T	C	1: 20,803,977 (GRCm39)	V124A	probably damaging	Het
Kif14	A	T	1: 136,444,128 (GRCm39)	E1373D	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Kmt2a	T	C	9: 44,731,944 (GRCm39)		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,809,256 (GRCm39)		probably benign	Het
Lamb2	T	C	9: 108,357,810 (GRCm39)	I111T	probably damaging	Het
Lrch3	A	T	16: 32,796,106 (GRCm39)	D204V	probably damaging	Het
Mansc1	C	A	6: 134,587,478 (GRCm39)	R233L	possibly damaging	Het
Mkrn3	A	G	7: 62,068,655 (GRCm39)	C379R	probably damaging	Het
Ncoa3	T	A	2: 165,912,045 (GRCm39)		probably null	Het
Neu3	A	T	7: 99,462,525 (GRCm39)	C399*	probably null	Het
Or10ad1	T	G	15: 98,105,296 (GRCm39)	*323S	probably null	Het
Or52e8	G	A	7: 104,624,862 (GRCm39)	T114M	probably damaging	Het
Pcare	T	C	17: 72,058,748 (GRCm39)	R310G	probably damaging	Het
Pde5a	T	C	3: 122,634,693 (GRCm39)	F713L	probably benign	Het
Pdk1	T	A	2: 71,713,760 (GRCm39)		probably null	Het
Plin4	A	G	17: 56,413,356 (GRCm39)	V423A	possibly damaging	Het
Pstpip1	T	A	9: 56,033,214 (GRCm39)	Y249N	probably damaging	Het
Ptprf	A	T	4: 118,068,964 (GRCm39)	C1673S	probably benign	Het
Pum1	A	G	4: 130,457,677 (GRCm39)	T230A	probably benign	Het
Qsox1	A	T	1: 155,665,079 (GRCm39)	D287E	probably benign	Het
Rad51ap2	A	G	12: 11,508,387 (GRCm39)	N770D	probably damaging	Het
Rtp3	T	A	9: 110,815,760 (GRCm39)	I202F	probably benign	Het
Slc26a4	C	T	12: 31,585,248 (GRCm39)		probably null	Het
Spmip7	A	G	11: 11,438,513 (GRCm39)		probably benign	Het
Sptbn1	C	G	11: 30,086,136 (GRCm39)	V1191L	probably damaging	Het
Tead2	T	C	7: 44,882,323 (GRCm39)	Y121H	probably benign	Het
Thsd7b	T	C	1: 129,358,575 (GRCm39)	L3P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Usp2	A	G	9: 44,003,630 (GRCm39)	I481V	probably benign	Het
Vps13d	C	A	4: 144,771,611 (GRCm39)	V4056F	possibly damaging	Het
Yeats2	A	G	16: 20,011,913 (GRCm39)	E496G	probably benign	Het
Zap70	A	G	1: 36,820,227 (GRCm39)	K503E	probably damaging	Het
Zbtb46	A	G	2: 181,053,713 (GRCm39)	L333P	probably benign	Het
Zfc3h1	A	T	10: 115,236,815 (GRCm39)	T430S	probably benign	Het
Zfp618	C	T	4: 63,036,803 (GRCm39)	R368*	probably null	Het

Other mutations in Crls1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5526:Crls1	UTSW	2	132,703,165 (GRCm39)	missense	possibly damaging	0.54
R5635:Crls1	UTSW	2	132,706,062 (GRCm39)	missense	possibly damaging	0.81
R6224:Crls1	UTSW	2	132,691,770 (GRCm39)	splice site	probably null
R6477:Crls1	UTSW	2	132,703,153 (GRCm39)	missense	probably benign	0.01
R7680:Crls1	UTSW	2	132,704,258 (GRCm39)	missense	probably damaging	1.00
R8872:Crls1	UTSW	2	132,691,819 (GRCm39)	missense	probably benign	0.45
R9372:Crls1	UTSW	2	132,707,802 (GRCm39)	nonsense	probably null
R9571:Crls1	UTSW	2	132,691,793 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTGCTTATTCTCACGCGG -3'
(R):5'- AAATGGTGGCCATCGCTTG -3'

Sequencing Primer
(F):5'- GCCAGTCAGTATCCAGAATGCTTAG -3'
(R):5'- ATGGTGGCCATCGCTTGTCTAC -3'

Posted On

2017-02-28