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?

Possibly non essential (E-score: 0.282) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

60929701-60934178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60930518 bp (GRCm39)

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: 73,198,693 (GRCm39)	L33F	probably benign	Het
Actr8	T	C	14: 29,712,927 (GRCm39)		probably null	Het
Aldh16a1	C	A	7: 44,791,391 (GRCm39)	A105S	probably damaging	Het
Angpt2	T	C	8: 18,760,641 (GRCm39)	T154A	probably benign	Het
Cap1	T	C	4: 122,753,980 (GRCm39)	T458A	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,632,978 (GRCm39)	D408G	probably benign	Het
Fam217b	T	A	2: 178,062,943 (GRCm39)	S302R	probably damaging	Het
Fcho2	A	T	13: 98,926,315 (GRCm39)	D89E	probably benign	Het
Fnip1	C	T	11: 54,390,334 (GRCm39)	R434C	probably damaging	Het
Gga3	G	A	11: 115,479,928 (GRCm39)	T261M	probably damaging	Het
Gm21985	T	C	2: 112,169,741 (GRCm39)	F292L	probably damaging	Het
Gm43638	A	T	5: 87,634,074 (GRCm39)	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,657,748 (GRCm39)	G68E	probably damaging	Het
Katnip	T	A	7: 125,469,857 (GRCm39)	V1442D	probably damaging	Het
Lpcat2	G	A	8: 93,597,775 (GRCm39)	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,218,527 (GRCm39)	A1984T	possibly damaging	Het
Npy4r	T	A	14: 33,868,322 (GRCm39)	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,962,937 (GRCm39)	H840Q	probably damaging	Het
Or7g26	G	A	9: 19,230,529 (GRCm39)	G233D	probably damaging	Het
Osbpl2	G	T	2: 179,786,987 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,728,530 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,921 (GRCm39)		probably benign	Het
Ppp1r16a	A	G	15: 76,578,494 (GRCm39)		probably benign	Het
Pprc1	C	T	19: 46,053,671 (GRCm39)		probably benign	Het
Prkcg	A	G	7: 3,368,135 (GRCm39)	D343G	probably benign	Het
Scaf11	A	C	15: 96,317,007 (GRCm39)	S852R	probably benign	Het
Slc31a2	C	T	4: 62,210,933 (GRCm39)	T22I	probably damaging	Het
Sox30	T	A	11: 45,872,169 (GRCm39)	D341E	probably damaging	Het
Tle4	A	G	19: 14,442,704 (GRCm39)	S339P	probably benign	Het
Tsg101	A	T	7: 46,558,673 (GRCm39)	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,629,630 (GRCm39)	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,631,129 (GRCm39)	S142T	probably benign	Het
Ubr4	C	A	4: 139,140,047 (GRCm39)	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,315,635 (GRCm39)	P172Q	probably damaging	Het
Usp12	T	C	5: 146,691,250 (GRCm39)	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,529,916 (GRCm39)	M287L	probably benign	Het
Vwa8	C	T	14: 79,420,428 (GRCm39)	Q1710*	probably null	Het
Wdfy4	T	A	14: 32,825,994 (GRCm39)	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,190,616 (GRCm39)	T145A	probably benign	Het
Zfp697	T	C	3: 98,334,846 (GRCm39)	C204R	probably damaging	Het

Other mutations in BC051665

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:BC051665	APN	13	60,932,826 (GRCm39)	splice site	probably benign
IGL02901:BC051665	APN	13	60,932,532 (GRCm39)	missense	probably damaging	1.00
IGL03221:BC051665	APN	13	60,932,242 (GRCm39)	nonsense	probably null
PIT4519001:BC051665	UTSW	13	60,931,989 (GRCm39)	missense	possibly damaging	0.93
R0486:BC051665	UTSW	13	60,931,859 (GRCm39)	missense	probably damaging	0.99
R0591:BC051665	UTSW	13	60,932,422 (GRCm39)	splice site	probably benign
R1238:BC051665	UTSW	13	60,932,451 (GRCm39)	missense	probably damaging	1.00
R1442:BC051665	UTSW	13	60,932,555 (GRCm39)	missense	probably benign	0.01
R1572:BC051665	UTSW	13	60,932,841 (GRCm39)	missense	probably damaging	1.00
R1766:BC051665	UTSW	13	60,932,854 (GRCm39)	missense	probably benign	0.00
R2176:BC051665	UTSW	13	60,932,344 (GRCm39)	splice site	probably benign
R2346:BC051665	UTSW	13	60,931,774 (GRCm39)	splice site	probably benign
R2504:BC051665	UTSW	13	60,930,468 (GRCm39)	missense	probably benign	0.06
R2980:BC051665	UTSW	13	60,932,209 (GRCm39)	missense	probably damaging	0.99
R3026:BC051665	UTSW	13	60,932,521 (GRCm39)	missense	probably damaging	1.00
R3751:BC051665	UTSW	13	60,931,145 (GRCm39)	missense	probably damaging	1.00
R4846:BC051665	UTSW	13	60,931,895 (GRCm39)	missense	probably damaging	1.00
R5554:BC051665	UTSW	13	60,932,435 (GRCm39)	missense	probably damaging	0.98
R5856:BC051665	UTSW	13	60,932,314 (GRCm39)	missense	probably benign	0.00
R5898:BC051665	UTSW	13	60,930,518 (GRCm39)	missense	probably damaging	1.00
R6707:BC051665	UTSW	13	60,932,222 (GRCm39)	missense	probably benign	0.00
R6977:BC051665	UTSW	13	60,932,486 (GRCm39)	nonsense	probably null
R7238:BC051665	UTSW	13	60,930,536 (GRCm39)	missense	probably benign	0.30
R7460:BC051665	UTSW	13	60,932,457 (GRCm39)	missense	probably benign	0.19
R7798:BC051665	UTSW	13	60,932,249 (GRCm39)	missense	probably benign	0.06
R8947:BC051665	UTSW	13	60,930,004 (GRCm39)	missense	probably damaging	1.00
R9120:BC051665	UTSW	13	60,932,916 (GRCm39)	missense	probably benign	0.00
R9645:BC051665	UTSW	13	60,932,545 (GRCm39)	missense	possibly damaging	0.77
Z1088:BC051665	UTSW	13	60,932,457 (GRCm39)	missense	probably benign	0.09

Posted On

2013-11-11