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?

Possibly non essential (E-score: 0.254) question?

Stock #

R5856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60929701-60934178 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60932314 bp (GRCm39)

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: 88,786,596 (GRCm39)	I7M	unknown	Het
Adgrf5	A	G	17: 43,757,011 (GRCm39)	T497A	probably benign	Het
Ano5	T	C	7: 51,235,074 (GRCm39)	I669T	probably benign	Het
Arhgap11a	A	T	2: 113,664,116 (GRCm39)	N722K	possibly damaging	Het
Atm	A	T	9: 53,407,255 (GRCm39)	I1161K	possibly damaging	Het
Atp13a4	T	C	16: 29,252,805 (GRCm39)	T714A	possibly damaging	Het
Car3	G	A	3: 14,936,701 (GRCm39)	V255M	probably damaging	Het
Cnot11	C	A	1: 39,576,534 (GRCm39)	F179L	probably benign	Het
Dctn1	A	G	6: 83,174,847 (GRCm39)	Y1013C	probably damaging	Het
Gm19965	A	G	1: 116,749,579 (GRCm39)	D420G	probably benign	Het
Gm5444	A	G	13: 4,821,683 (GRCm39)		noncoding transcript	Het
Hydin	A	T	8: 111,268,474 (GRCm39)	D2946V	probably damaging	Het
Hyou1	C	T	9: 44,292,641 (GRCm39)	R119C	probably damaging	Het
Ighm	A	T	12: 113,385,222 (GRCm39)	L246Q	unknown	Het
Itpr3	A	G	17: 27,325,379 (GRCm39)	E1324G	probably damaging	Het
Loxl4	G	T	19: 42,583,805 (GRCm39)	Q749K	possibly damaging	Het
Muc2	C	A	7: 141,299,381 (GRCm39)		probably benign	Het
Myh11	T	C	16: 14,023,840 (GRCm39)	T1505A	probably benign	Het
Nsmce2	A	G	15: 59,250,792 (GRCm39)	E21G	probably damaging	Het
Or13c3	T	A	4: 52,856,516 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,254 (GRCm39)	I6F	probably benign	Het
Plaa	A	G	4: 94,471,724 (GRCm39)	I375T	probably benign	Het
Pou2f1	C	T	1: 165,742,699 (GRCm39)	A65T	probably benign	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rxfp1	T	A	3: 79,570,620 (GRCm39)	N271Y	possibly damaging	Het
Sema5b	T	G	16: 35,466,756 (GRCm39)	Y219*	probably null	Het
Slc35f3	G	T	8: 127,047,819 (GRCm39)	R53L	probably benign	Het
Slc44a5	T	C	3: 153,964,029 (GRCm39)	V465A	possibly damaging	Het
Slc9a5	A	G	8: 106,083,797 (GRCm39)	I446V	possibly damaging	Het
Slf1	A	T	13: 77,254,206 (GRCm39)	D204E	possibly damaging	Het
Sox5	T	A	6: 144,155,088 (GRCm39)	T3S	probably damaging	Het
Srr	G	A	11: 74,803,838 (GRCm39)	R40C	possibly damaging	Het
Tas2r115	T	A	6: 132,714,501 (GRCm39)	H150L	possibly damaging	Het
Tet2	A	G	3: 133,192,401 (GRCm39)	S678P	probably benign	Het
Tmem11	T	C	11: 60,755,684 (GRCm39)	K183E	probably damaging	Het
Upf1	T	C	8: 70,787,412 (GRCm39)		probably null	Het
Xpo6	A	T	7: 125,748,674 (GRCm39)		probably benign	Het
Zfp638	C	T	6: 83,954,047 (GRCm39)	S1384L	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in BC051665

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:BC051665	APN	13	60,930,518 (GRCm39)	missense	probably damaging	1.00
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
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

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