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: 0.967) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

4140038-4151176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4148481 bp (GRCm39)

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

noncoding transcript
Transcript: ENSMUST00000155881

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

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: 90,141,856 (GRCm39)	V105A	probably benign	Het
Acr	T	C	15: 89,452,617 (GRCm39)	V18A	probably benign	Het
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 44,791,517 (GRCm39)	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,629,191 (GRCm39)	Y338N	probably benign	Het
Aox3	C	T	1: 58,208,953 (GRCm39)	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,644,353 (GRCm39)	S1535P	probably benign	Het
C4b	A	G	17: 34,961,993 (GRCm39)		probably benign	Het
Ccdc157	A	G	11: 4,098,781 (GRCm39)	C242R	probably damaging	Het
Cep135	T	A	5: 76,741,194 (GRCm39)	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,194,057 (GRCm39)		probably null	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Copb2	T	C	9: 98,463,203 (GRCm39)	S473P	probably damaging	Het
Cpb1	C	T	3: 20,306,118 (GRCm39)		probably null	Het
Cpsf1	A	G	15: 76,480,741 (GRCm39)	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,360,328 (GRCm39)	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,492,743 (GRCm39)	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,272,421 (GRCm39)	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,077,482 (GRCm39)	V287M	probably damaging	Het
Fras1	T	C	5: 96,857,750 (GRCm39)	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,258,985 (GRCm39)		probably benign	Het
Gprc5c	A	G	11: 114,755,078 (GRCm39)	I252V	probably benign	Het
Ints3	C	T	3: 90,301,629 (GRCm39)		probably null	Het
L1td1	A	G	4: 98,625,581 (GRCm39)	D592G	probably damaging	Het
Lamb3	A	G	1: 193,025,720 (GRCm39)	M1137V	probably benign	Het
Lfng	T	C	5: 140,598,290 (GRCm39)	V204A	probably damaging	Het
Lsm14b	A	G	2: 179,674,396 (GRCm39)	D233G	probably damaging	Het
Map4	C	T	9: 109,863,836 (GRCm39)	P354S	probably benign	Het
Mapt	G	A	11: 104,185,741 (GRCm39)	V53M	probably damaging	Het
Mier1	T	G	4: 103,012,738 (GRCm39)	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,399,660 (GRCm39)	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,875 (GRCm39)	A257V	probably damaging	Het
Nup188	T	C	2: 30,217,537 (GRCm39)	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,258,750 (GRCm39)	S333P	probably damaging	Het
Or7g30	T	G	9: 19,353,111 (GRCm39)	F301V	probably benign	Het
Or9a4	A	C	6: 40,549,186 (GRCm39)	I289L	probably damaging	Het
Pbxip1	C	A	3: 89,350,897 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,633,124 (GRCm39)	C38F	probably damaging	Het
Plb1	A	T	5: 32,499,888 (GRCm39)		probably benign	Het
Plcz1	T	C	6: 139,947,982 (GRCm39)		probably benign	Het
Plxnb1	T	C	9: 108,939,672 (GRCm39)	V1447A	probably damaging	Het
Pnldc1	A	T	17: 13,125,415 (GRCm39)	M73K	probably benign	Het
Psg20	C	T	7: 18,414,963 (GRCm39)	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,478,155 (GRCm39)		probably null	Het
Rabgap1	T	C	2: 37,446,281 (GRCm39)	V859A	probably damaging	Het
Rad51b	T	A	12: 79,374,002 (GRCm39)	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,318,995 (GRCm39)	Q788*	probably null	Het
Ror2	C	T	13: 53,265,653 (GRCm39)	G468R	probably damaging	Het
Slamf7	A	G	1: 171,468,754 (GRCm39)	I46T	possibly damaging	Het
Stab2	A	G	10: 86,758,759 (GRCm39)	S1060P	probably damaging	Het
Syndig1	T	A	2: 149,845,203 (GRCm39)	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,266,317 (GRCm39)	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,436,616 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,188 (GRCm39)	Y103H	probably damaging	Het
Tut4	T	C	4: 108,370,596 (GRCm39)	S871P	possibly damaging	Het
Ubr3	T	C	2: 69,768,522 (GRCm39)	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,069,520 (GRCm39)	C749F	probably damaging	Het
Ulk2	G	T	11: 61,682,262 (GRCm39)	S751*	probably null	Het
Wrn	G	A	8: 33,731,039 (GRCm39)	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,385,508 (GRCm39)	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,547,163 (GRCm39)	S223P	probably damaging	Het

Other mutations in Leng8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02437:Leng8	APN	7	4,145,092 (GRCm39)	missense	probably damaging	0.99
Coolhand	UTSW	7	4,147,932 (GRCm39)	nonsense	probably null
R0104:Leng8	UTSW	7	4,146,807 (GRCm39)	missense	probably damaging	0.99
R0774:Leng8	UTSW	7	4,145,135 (GRCm39)	missense	probably damaging	1.00
R1696:Leng8	UTSW	7	4,148,135 (GRCm39)	missense	probably damaging	1.00
R2001:Leng8	UTSW	7	4,148,073 (GRCm39)	missense	probably damaging	1.00
R2012:Leng8	UTSW	7	4,146,609 (GRCm39)	missense	probably damaging	1.00
R2054:Leng8	UTSW	7	4,147,289 (GRCm39)	nonsense	probably null
R3433:Leng8	UTSW	7	4,145,131 (GRCm39)	missense	probably benign	0.22
R4335:Leng8	UTSW	7	4,150,037 (GRCm39)	missense	probably damaging	0.99
R4607:Leng8	UTSW	7	4,147,796 (GRCm39)	missense	probably damaging	1.00
R4608:Leng8	UTSW	7	4,147,796 (GRCm39)	missense	probably damaging	1.00
R4886:Leng8	UTSW	7	4,147,930 (GRCm39)	splice site	probably null
R5307:Leng8	UTSW	7	4,148,472 (GRCm39)	missense	probably damaging	1.00
R5339:Leng8	UTSW	7	4,148,285 (GRCm39)	missense	possibly damaging	0.96
R5368:Leng8	UTSW	7	4,142,987 (GRCm39)	missense	probably damaging	0.97
R5370:Leng8	UTSW	7	4,148,433 (GRCm39)	missense	possibly damaging	0.48
R5615:Leng8	UTSW	7	4,147,957 (GRCm39)	nonsense	probably null
R5645:Leng8	UTSW	7	4,148,273 (GRCm39)	missense	probably damaging	1.00
R5750:Leng8	UTSW	7	4,145,119 (GRCm39)	missense	probably benign	0.04
R6041:Leng8	UTSW	7	4,148,568 (GRCm39)	missense	probably benign	0.01
R6054:Leng8	UTSW	7	4,148,522 (GRCm39)	splice site	probably null
R6481:Leng8	UTSW	7	4,148,412 (GRCm39)	missense	probably damaging	1.00
R6826:Leng8	UTSW	7	4,148,319 (GRCm39)	missense	probably damaging	1.00
R6919:Leng8	UTSW	7	4,146,625 (GRCm39)	missense	possibly damaging	0.82
R7313:Leng8	UTSW	7	4,142,525 (GRCm39)	missense	possibly damaging	0.73
R7357:Leng8	UTSW	7	4,147,932 (GRCm39)	nonsense	probably null
R7428:Leng8	UTSW	7	4,146,572 (GRCm39)	missense	probably damaging	1.00
R7686:Leng8	UTSW	7	4,146,504 (GRCm39)	nonsense	probably null
R8027:Leng8	UTSW	7	4,145,855 (GRCm39)	frame shift	probably null
R8198:Leng8	UTSW	7	4,147,170 (GRCm39)	missense	possibly damaging	0.82
R9048:Leng8	UTSW	7	4,146,931 (GRCm39)	unclassified	probably benign
R9103:Leng8	UTSW	7	4,146,897 (GRCm39)	missense	probably damaging	1.00
R9234:Leng8	UTSW	7	4,145,247 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09