Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02303:Nhlrc2'

287478

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02303

Quality Score

Status

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56574848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 293 (V293E)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423]

AlphaFold

Q8BZW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000071423
AA Change: V293E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: V293E

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	78	174	2.7e-14	PFAM
LY	216	258	8.44e0	SMART
Pfam:NHL	278	304	2.3e-9	PFAM
low complexity region	321	331	N/A	INTRINSIC
Blast:LY	402	446	5e-8	BLAST
LY	467	509	1.91e0	SMART
Pfam:NHL	530	558	1.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,154,550	F319S	probably damaging	Het
Ap3b1	A	G	13: 94,528,319	D922G	unknown	Het
Bhlhe41	A	T	6: 145,864,156	H107Q	probably damaging	Het
Csmd2	C	A	4: 128,369,008	H662Q	probably benign	Het
Dnah8	T	C	17: 30,713,047	V1463A	probably benign	Het
Ebf3	A	T	7: 137,309,365	V140E	probably benign	Het
Havcr2	T	A	11: 46,479,281		probably benign	Het
Hexb	G	A	13: 97,176,893	A485V	probably damaging	Het
Igkv5-37	T	A	6: 69,963,489	Q57L	probably damaging	Het
Ipo5	T	A	14: 120,917,383	S40T	probably benign	Het
Kcnj8	A	G	6: 142,570,111	M90T	probably benign	Het
Kif21b	T	A	1: 136,159,757	L937Q	probably damaging	Het
Kmt2c	A	C	5: 25,310,157	L2896R	probably damaging	Het
Ldlrap1	A	T	4: 134,757,395	I96N	probably damaging	Het
Leo1	A	G	9: 75,445,999		probably benign	Het
Mbnl2	T	C	14: 120,404,647	M341T	probably benign	Het
Nfatc2	G	A	2: 168,506,901	R669*	probably null	Het
Olfr23	T	C	11: 73,940,450	F68S	possibly damaging	Het
Olfr521	A	G	7: 99,767,972	D270G	possibly damaging	Het
Olfr610	A	T	7: 103,506,088	M286K	probably benign	Het
Olfr632	A	G	7: 103,937,563	Q61R	possibly damaging	Het
Otoa	T	A	7: 121,132,924		probably null	Het
Pcnt	T	C	10: 76,442,559		probably benign	Het
Recql4	G	T	15: 76,708,571	Q307K	possibly damaging	Het
Sp140	T	A	1: 85,643,009	Y453*	probably null	Het
Sspo	G	A	6: 48,484,705	V3600I	possibly damaging	Het
Sybu	T	C	15: 44,673,223	E441G	probably benign	Het
Syne3	A	T	12: 104,963,294	H222Q	probably damaging	Het
Tef	T	C	15: 81,821,295	V173A	probably benign	Het
Tlcd1	A	G	11: 78,180,334		probably null	Het
Tmod4	C	A	3: 95,125,642	Q30K	probably benign	Het
Tpgs1	T	C	10: 79,675,488	Y155H	probably damaging	Het
Trib3	G	A	2: 152,343,150	P60S	probably benign	Het
Ttn	T	A	2: 76,730,206	T20957S	probably damaging	Het
Vars	T	C	17: 35,015,484		probably benign	Het
Vps13c	T	C	9: 67,945,481		probably benign	Het
Zc3h4	T	C	7: 16,434,077	S704P	unknown	Het
Zfp644	G	A	5: 106,637,314	R456W	probably damaging	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56551799	nonsense	probably null
IGL01524:Nhlrc2	APN	19	56576155	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56574787	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56570850	missense	probably benign	0.25
IGL02256:Nhlrc2	APN	19	56597361	missense	probably benign	0.10
IGL02349:Nhlrc2	APN	19	56591719	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56570654	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56551870	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56570527	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56597278	missense	probably benign	0.06
R3854:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R3855:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56576267	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56570466	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56570534	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56570584	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56570859	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56591784	missense	probably benign	0.12
R7164:Nhlrc2	UTSW	19	56592499	missense	probably damaging	1.00
R7507:Nhlrc2	UTSW	19	56597378	missense	not run
R7609:Nhlrc2	UTSW	19	56594896	missense	probably benign
R8811:Nhlrc2	UTSW	19	56594912	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56591752	missense	possibly damaging	0.72

Posted On

2015-04-16