Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01341:Ctsll3'

74842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctsll3

Ensembl Gene

ENSMUSG00000056728

Gene Name

cathepsin L-like 3

Synonyms

2310051M13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01341

Quality Score

Status

Chromosome

Chromosomal Location

60946064-60950658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60946813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 269 (D269N)

Ref Sequence

ENSEMBL: ENSMUSP00000036801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043754]

AlphaFold

Q3ULP7

Predicted Effect

probably benign
Transcript: ENSMUST00000043754
AA Change: D269N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036801
Gene: ENSMUSG00000056728
AA Change: D269N

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Inhibitor_I29	29	88	1.25e-20	SMART
Pept_C1	115	330	1.89e-127	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223578

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,067 (GRCm39)	H3450Q	probably benign	Het
Arcn1	A	G	9: 44,668,489 (GRCm39)	I249T	possibly damaging	Het
Arhgef5	G	A	6: 43,260,925 (GRCm39)	R1450H	probably damaging	Het
Cdh26	A	T	2: 178,099,240 (GRCm39)	D113V	probably damaging	Het
Cnot4	A	G	6: 35,047,189 (GRCm39)	V141A	probably damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,070,261 (GRCm39)	I492T	probably damaging	Het
Gimap8	A	G	6: 48,635,701 (GRCm39)	S489G	probably damaging	Het
Glra2	T	C	X: 164,107,562 (GRCm39)	D46G	probably damaging	Het
Gm7094	A	G	1: 21,343,107 (GRCm39)		noncoding transcript	Het
Gmps	T	C	3: 63,922,861 (GRCm39)	I608T	probably damaging	Het
Gzma	A	G	13: 113,230,418 (GRCm39)		probably benign	Het
H2-Q4	T	A	17: 35,601,978 (GRCm39)	V280E	probably damaging	Het
Jak1	C	T	4: 101,032,290 (GRCm39)	G439S	probably damaging	Het
Kars1	T	C	8: 112,721,606 (GRCm39)	I556V	probably benign	Het
Kifc2	T	C	15: 76,547,098 (GRCm39)		probably null	Het
Kit	T	C	5: 75,767,734 (GRCm39)	I39T	probably damaging	Het
Map3k6	G	T	4: 132,975,371 (GRCm39)	R702L	possibly damaging	Het
Marveld3	T	A	8: 110,675,049 (GRCm39)	T256S	possibly damaging	Het
Nkd1	G	A	8: 89,318,180 (GRCm39)		probably benign	Het
Or5aq6	T	A	2: 86,923,643 (GRCm39)	I33L	probably benign	Het
Or6c212	G	A	10: 129,558,747 (GRCm39)	T222I	possibly damaging	Het
Pax2	A	G	19: 44,779,127 (GRCm39)	S167G	probably damaging	Het
Pdlim3	T	A	8: 46,368,277 (GRCm39)	D258E	probably benign	Het
Ppip5k1	A	T	2: 121,173,691 (GRCm39)	C393*	probably null	Het
Pxdn	T	C	12: 30,052,486 (GRCm39)	S888P	probably damaging	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Reln	T	A	5: 22,174,077 (GRCm39)	I2009F	probably damaging	Het
Sec23b	T	C	2: 144,427,653 (GRCm39)	S627P	probably benign	Het
Slc2a8	T	A	2: 32,866,003 (GRCm39)	Q39L	probably damaging	Het
Tmem143	T	C	7: 45,565,558 (GRCm39)	Y340H	probably damaging	Het
Ttn	A	G	2: 76,560,663 (GRCm39)	V29246A	probably damaging	Het
Wdr81	T	C	11: 75,336,427 (GRCm39)	D1654G	probably damaging	Het
Zbtb11	T	G	16: 55,811,294 (GRCm39)	L484R	possibly damaging	Het
Zcchc8	A	G	5: 123,842,632 (GRCm39)	V367A	probably benign	Het

Other mutations in Ctsll3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Ctsll3	APN	13	60,946,756 (GRCm39)	missense	probably benign	0.03
IGL00903:Ctsll3	APN	13	60,948,075 (GRCm39)	missense	probably benign	0.18
IGL01464:Ctsll3	APN	13	60,948,134 (GRCm39)	missense	probably damaging	1.00
IGL02087:Ctsll3	APN	13	60,947,423 (GRCm39)	missense	possibly damaging	0.56
indolent	UTSW	13	60,946,721 (GRCm39)	critical splice donor site	probably null
PIT4504001:Ctsll3	UTSW	13	60,948,823 (GRCm39)	missense	probably benign	0.32
R0145:Ctsll3	UTSW	13	60,946,409 (GRCm39)	missense	probably damaging	1.00
R0427:Ctsll3	UTSW	13	60,949,205 (GRCm39)	missense	probably benign	0.18
R1463:Ctsll3	UTSW	13	60,949,089 (GRCm39)	splice site	probably benign
R1551:Ctsll3	UTSW	13	60,948,821 (GRCm39)	nonsense	probably null
R1695:Ctsll3	UTSW	13	60,948,791 (GRCm39)	missense	probably damaging	1.00
R1969:Ctsll3	UTSW	13	60,948,162 (GRCm39)	missense	probably benign	0.00
R2168:Ctsll3	UTSW	13	60,948,749 (GRCm39)	missense	possibly damaging	0.85
R4662:Ctsll3	UTSW	13	60,947,416 (GRCm39)	missense	possibly damaging	0.68
R4783:Ctsll3	UTSW	13	60,948,209 (GRCm39)	missense	probably damaging	1.00
R5327:Ctsll3	UTSW	13	60,946,721 (GRCm39)	critical splice donor site	probably null
R5547:Ctsll3	UTSW	13	60,948,551 (GRCm39)	missense	probably benign	0.01
R5743:Ctsll3	UTSW	13	60,948,815 (GRCm39)	missense	probably benign	0.01
R5937:Ctsll3	UTSW	13	60,947,410 (GRCm39)	missense	probably damaging	1.00
R6414:Ctsll3	UTSW	13	60,948,113 (GRCm39)	missense	probably damaging	1.00
R7397:Ctsll3	UTSW	13	60,948,532 (GRCm39)	missense	probably benign	0.05
R7755:Ctsll3	UTSW	13	60,948,219 (GRCm39)	missense	probably damaging	1.00
R8421:Ctsll3	UTSW	13	60,948,595 (GRCm39)	missense	probably damaging	1.00
R9285:Ctsll3	UTSW	13	60,946,402 (GRCm39)	missense	probably benign	0.31
X0065:Ctsll3	UTSW	13	60,949,098 (GRCm39)	splice site	probably null

Posted On

2013-10-07