Mutagenetix > Incidental Mutation

Incidental Mutation 'R5856:BC051665'

454924

Institutional Source

Beutler Lab

Gene Symbol

BC051665

Ensembl Gene

ENSMUSG00000042243

Gene Name

cDNA sequence BC051665

Synonyms

cathepsin L-like

MMRRC Submission

043230-MU

Accession Numbers

Essential gene?

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

Stock #

R5856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60781887-60786364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60784500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 92 (M92L)

Ref Sequence

ENSEMBL: ENSMUSP00000026078 (fasta)

Gene Model

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

AlphaFold

E9Q623

Predicted Effect

probably benign
Transcript: ENSMUST00000026078
AA Change: M92L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026078
Gene: ENSMUSG00000042243
AA Change: M92L

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

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Adgrf5	A	G	17: 43,446,120	T497A	probably benign	Het
Ano5	T	C	7: 51,585,326	I669T	probably benign	Het
Arhgap11a	A	T	2: 113,833,771	N722K	possibly damaging	Het
Atm	A	T	9: 53,495,955	I1161K	possibly damaging	Het
Atp13a4	T	C	16: 29,433,987	T714A	possibly damaging	Het
Car3	G	A	3: 14,871,641	V255M	probably damaging	Het
Cnot11	C	A	1: 39,537,453	F179L	probably benign	Het
Dctn1	A	G	6: 83,197,865	Y1013C	probably damaging	Het
Gm19965	A	G	1: 116,821,849	D420G	probably benign	Het
Gm5444	A	G	13: 4,771,684		noncoding transcript	Het
Hydin	A	T	8: 110,541,842	D2946V	probably damaging	Het
Hyou1	C	T	9: 44,381,344	R119C	probably damaging	Het
Ighm	A	T	12: 113,421,602	L246Q	unknown	Het
Itpr3	A	G	17: 27,106,405	E1324G	probably damaging	Het
Loxl4	G	T	19: 42,595,366	Q749K	possibly damaging	Het
Muc2	C	A	7: 141,745,644		probably benign	Het
Myh11	T	C	16: 14,205,976	T1505A	probably benign	Het
Nsmce2	A	G	15: 59,378,943	E21G	probably damaging	Het
Olfr1220	T	A	2: 89,097,910	I6F	probably benign	Het
Olfr273	T	A	4: 52,856,516		probably benign	Het
Plaa	A	G	4: 94,583,487	I375T	probably benign	Het
Pou2f1	C	T	1: 165,915,130	A65T	probably benign	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rxfp1	T	A	3: 79,663,313	N271Y	possibly damaging	Het
Sema5b	T	G	16: 35,646,386	Y219*	probably null	Het
Slc35f3	G	T	8: 126,321,080	R53L	probably benign	Het
Slc44a5	T	C	3: 154,258,392	V465A	possibly damaging	Het
Slc9a5	A	G	8: 105,357,165	I446V	possibly damaging	Het
Slf1	A	T	13: 77,106,087	D204E	possibly damaging	Het
Sox5	T	A	6: 144,209,362	T3S	probably damaging	Het
Srr	G	A	11: 74,913,012	R40C	possibly damaging	Het
Tas2r115	T	A	6: 132,737,538	H150L	possibly damaging	Het
Tet2	A	G	3: 133,486,640	S678P	probably benign	Het
Tmem11	T	C	11: 60,864,858	K183E	probably damaging	Het
Upf1	T	C	8: 70,334,762		probably null	Het
Xpo6	A	T	7: 126,149,502		probably benign	Het
Zfp638	C	T	6: 83,977,065	S1384L	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in BC051665

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:BC051665	APN	13	60782704	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCATCAGCAAGCCAAAGTTG -3'
(R):5'- ACATGAAGATGATCGGCCTGC -3'

Sequencing Primer
(F):5'- CCAAAGTTGGTGTTTCCTTCCTGG -3'
(R):5'- TGCACAACGAGGACTATCTG -3'

Posted On

2017-02-10