Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Leng8'

92071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Leng8

Ensembl Gene

ENSMUSG00000035545

Gene Name

leukocyte receptor cluster (LRC) member 8

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

4137039-4148177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4145482 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 751 (A751E)

Ref Sequence

ENSEMBL: ENSMUSP00000046465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037472] [ENSMUST00000058358] [ENSMUST00000121270] [ENSMUST00000128756] [ENSMUST00000144248] [ENSMUST00000154571]

AlphaFold

Q8CBY3

Predicted Effect

probably benign
Transcript: ENSMUST00000037472
AA Change: A751E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545
AA Change: A751E

Domain	Start	End	E-Value	Type
low complexity region	47	69	N/A	INTRINSIC
low complexity region	73	118	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
low complexity region	413	447	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
Pfam:SAC3_GANP	567	762	8.2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058358

SMART Domains

Protein: ENSMUSP00000061079
Gene: ENSMUSG00000043432

Domain	Start	End	E-Value	Type
ZnF_C3H1	8	34	1.72e-4	SMART
Pfam:DUF504	77	128	1.9e-11	PFAM
Pfam:AKAP7_NLS	305	484	2.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121270

SMART Domains

Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545

Domain	Start	End	E-Value	Type
low complexity region	47	69	N/A	INTRINSIC
low complexity region	73	118	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
low complexity region	413	447	N/A	INTRINSIC
low complexity region	453	468	N/A	INTRINSIC
Pfam:SAC3_GANP	567	764	7.4e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127723

Predicted Effect

probably benign
Transcript: ENSMUST00000128756

SMART Domains

Protein: ENSMUSP00000118832
Gene: ENSMUSG00000035545

Domain	Start	End	E-Value	Type
low complexity region	47	69	N/A	INTRINSIC
low complexity region	73	118	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144248

SMART Domains

Protein: ENSMUSP00000120574
Gene: ENSMUSG00000035545

Domain	Start	End	E-Value	Type
low complexity region	47	69	N/A	INTRINSIC
low complexity region	73	104	N/A	INTRINSIC
low complexity region	119	137	N/A	INTRINSIC
low complexity region	346	359	N/A	INTRINSIC
low complexity region	376	410	N/A	INTRINSIC
low complexity region	416	431	N/A	INTRINSIC
Pfam:SAC3_GANP	530	725	1e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146434

Predicted Effect

probably benign
Transcript: ENSMUST00000154571

SMART Domains

Protein: ENSMUSP00000123328
Gene: ENSMUSG00000035545

Domain	Start	End	E-Value	Type
low complexity region	47	69	N/A	INTRINSIC
low complexity region	73	118	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155881

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,214,134	V105A	probably benign	Het
Acr	T	C	15: 89,568,414	V18A	probably benign	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 45,142,093	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,738,365	Y338N	probably benign	Het
Aox3	C	T	1: 58,169,794	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,737,046	S1535P	probably benign	Het
C4b	A	G	17: 34,743,019		probably benign	Het
Ccdc157	A	G	11: 4,148,781	C242R	probably damaging	Het
Cep135	T	A	5: 76,593,347	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,244,057		probably null	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Copb2	T	C	9: 98,581,150	S473P	probably damaging	Het
Cpb1	C	T	3: 20,251,954		probably null	Het
Cpsf1	A	G	15: 76,596,541	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,212,462	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,691,884	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,034,964	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,186,656	V287M	probably damaging	Het
Fras1	T	C	5: 96,709,891	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,040,004		probably benign	Het
Gprc5c	A	G	11: 114,864,252	I252V	probably benign	Het
Ints3	C	T	3: 90,394,322		probably null	Het
L1td1	A	G	4: 98,737,344	D592G	probably damaging	Het
Lamb3	A	G	1: 193,343,412	M1137V	probably benign	Het
Lfng	T	C	5: 140,612,535	V204A	probably damaging	Het
Lsm14b	A	G	2: 180,032,603	D233G	probably damaging	Het
Map4	C	T	9: 110,034,768	P354S	probably benign	Het
Mapt	G	A	11: 104,294,915	V53M	probably damaging	Het
Mier1	T	G	4: 103,155,541	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,251,847	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,789	A257V	probably damaging	Het
Nup188	T	C	2: 30,327,525	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,021,310	S333P	probably damaging	Het
Olfr460	A	C	6: 40,572,252	I289L	probably damaging	Het
Olfr849	T	G	9: 19,441,815	F301V	probably benign	Het
Pbxip1	C	A	3: 89,443,590		probably benign	Het
Pde9a	G	T	17: 31,414,150	C38F	probably damaging	Het
Plb1	A	T	5: 32,342,544		probably benign	Het
Plcz1	T	C	6: 140,002,256		probably benign	Het
Plxnb1	T	C	9: 109,110,604	V1447A	probably damaging	Het
Pnldc1	A	T	17: 12,906,528	M73K	probably benign	Het
Psg20	C	T	7: 18,681,038	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,659,405		probably null	Het
Rabgap1	T	C	2: 37,556,269	V859A	probably damaging	Het
Rad51b	T	A	12: 79,327,228	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,248,771	Q788*	probably null	Het
Ror2	C	T	13: 53,111,617	G468R	probably damaging	Het
Slamf7	A	G	1: 171,641,186	I46T	possibly damaging	Het
Stab2	A	G	10: 86,922,895	S1060P	probably damaging	Het
Syndig1	T	A	2: 150,003,283	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,118,451	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,359,552		probably benign	Het
Trav21-dv12	T	C	14: 53,876,731	Y103H	probably damaging	Het
Ubr3	T	C	2: 69,938,178	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,092,120	C749F	probably damaging	Het
Ulk2	G	T	11: 61,791,436	S751*	probably null	Het
Wrn	G	A	8: 33,241,011	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,346,349	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,309,723	S223P	probably damaging	Het
Zcchc11	T	C	4: 108,513,399	S871P	possibly damaging	Het

Other mutations in Leng8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02437:Leng8	APN	7	4142093	missense	probably damaging	0.99
Coolhand	UTSW	7	4144933	nonsense	probably null
R0104:Leng8	UTSW	7	4143808	missense	probably damaging	0.99
R0774:Leng8	UTSW	7	4142136	missense	probably damaging	1.00
R1696:Leng8	UTSW	7	4145136	missense	probably damaging	1.00
R2001:Leng8	UTSW	7	4145074	missense	probably damaging	1.00
R2012:Leng8	UTSW	7	4143610	missense	probably damaging	1.00
R2054:Leng8	UTSW	7	4144290	nonsense	probably null
R3433:Leng8	UTSW	7	4142132	missense	probably benign	0.22
R4335:Leng8	UTSW	7	4147038	missense	probably damaging	0.99
R4607:Leng8	UTSW	7	4144797	missense	probably damaging	1.00
R4608:Leng8	UTSW	7	4144797	missense	probably damaging	1.00
R4886:Leng8	UTSW	7	4144931	splice site	probably null
R5307:Leng8	UTSW	7	4145473	missense	probably damaging	1.00
R5339:Leng8	UTSW	7	4145286	missense	possibly damaging	0.96
R5368:Leng8	UTSW	7	4139988	missense	probably damaging	0.97
R5370:Leng8	UTSW	7	4145434	missense	possibly damaging	0.48
R5615:Leng8	UTSW	7	4144958	nonsense	probably null
R5645:Leng8	UTSW	7	4145274	missense	probably damaging	1.00
R5750:Leng8	UTSW	7	4142120	missense	probably benign	0.04
R6041:Leng8	UTSW	7	4145569	missense	probably benign	0.01
R6054:Leng8	UTSW	7	4145523	splice site	probably null
R6481:Leng8	UTSW	7	4145413	missense	probably damaging	1.00
R6826:Leng8	UTSW	7	4145320	missense	probably damaging	1.00
R6919:Leng8	UTSW	7	4143626	missense	possibly damaging	0.82
R7313:Leng8	UTSW	7	4139526	missense	possibly damaging	0.73
R7357:Leng8	UTSW	7	4144933	nonsense	probably null
R7428:Leng8	UTSW	7	4143573	missense	probably damaging	1.00
R7686:Leng8	UTSW	7	4143505	nonsense	probably null
R8027:Leng8	UTSW	7	4142856	frame shift	probably null
R8198:Leng8	UTSW	7	4144171	missense	possibly damaging	0.82
R9048:Leng8	UTSW	7	4143932	unclassified	probably benign
R9103:Leng8	UTSW	7	4143898	missense	probably damaging	1.00
R9234:Leng8	UTSW	7	4142248	missense	probably damaging	1.00

Posted On

2013-12-09