Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:BC051665'

84544

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC051665

Ensembl Gene

ENSMUSG00000042243

Gene Name

cDNA sequence BC051665

Synonyms

cathepsin L-like

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

60781887-60786364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60782704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 278 (V278A)

Ref Sequence

ENSEMBL: ENSMUSP00000026078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026078]

AlphaFold

E9Q623

Predicted Effect

probably damaging
Transcript: ENSMUST00000026078
AA Change: V278A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: V278A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Inhibitor_I29	29	88	6.16e-20	SMART
Pept_C1	114	329	2.04e-123	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	probably damaging	Het

Other mutations in BC051665

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:BC051665	APN	13	60785012	splice site	probably benign
IGL02901:BC051665	APN	13	60784718	missense	probably damaging	1.00
IGL03221:BC051665	APN	13	60784428	nonsense	probably null
PIT4519001:BC051665	UTSW	13	60784175	missense	possibly damaging	0.93
R0486:BC051665	UTSW	13	60784045	missense	probably damaging	0.99
R0591:BC051665	UTSW	13	60784608	splice site	probably benign
R1238:BC051665	UTSW	13	60784637	missense	probably damaging	1.00
R1442:BC051665	UTSW	13	60784741	missense	probably benign	0.01
R1572:BC051665	UTSW	13	60785027	missense	probably damaging	1.00
R1766:BC051665	UTSW	13	60785040	missense	probably benign	0.00
R2176:BC051665	UTSW	13	60784530	splice site	probably benign
R2346:BC051665	UTSW	13	60783960	splice site	probably benign
R2504:BC051665	UTSW	13	60782654	missense	probably benign	0.06
R2980:BC051665	UTSW	13	60784395	missense	probably damaging	0.99
R3026:BC051665	UTSW	13	60784707	missense	probably damaging	1.00
R3751:BC051665	UTSW	13	60783331	missense	probably damaging	1.00
R4846:BC051665	UTSW	13	60784081	missense	probably damaging	1.00
R5554:BC051665	UTSW	13	60784621	missense	probably damaging	0.98
R5856:BC051665	UTSW	13	60784500	missense	probably benign	0.00
R5898:BC051665	UTSW	13	60782704	missense	probably damaging	1.00
R6707:BC051665	UTSW	13	60784408	missense	probably benign	0.00
R6977:BC051665	UTSW	13	60784672	nonsense	probably null
R7238:BC051665	UTSW	13	60782722	missense	probably benign	0.30
R7460:BC051665	UTSW	13	60784643	missense	probably benign	0.19
R7798:BC051665	UTSW	13	60784435	missense	probably benign	0.06
R8947:BC051665	UTSW	13	60782190	missense	probably damaging	1.00
R9120:BC051665	UTSW	13	60785102	missense	probably benign	0.00
R9645:BC051665	UTSW	13	60784731	missense	possibly damaging	0.77
Z1088:BC051665	UTSW	13	60784643	missense	probably benign	0.09

Posted On

2013-11-11