Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02343:Nhlrc4'

289190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhlrc4

Ensembl Gene

ENSMUSG00000090113

Gene Name

NHL repeat containing 4

Synonyms

F430201B04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02343

Quality Score

Status

Chromosome

Chromosomal Location

26161207-26163905 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 26162335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 137 (*137W)

Ref Sequence

ENSEMBL: ENSMUSP00000082102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026823] [ENSMUST00000085027] [ENSMUST00000097368] [ENSMUST00000139226] [ENSMUST00000140304] [ENSMUST00000145745] [ENSMUST00000208043] [ENSMUST00000208071] [ENSMUST00000148307] [ENSMUST00000162431] [ENSMUST00000148382]

AlphaFold

Q3UP44

Predicted Effect

probably benign
Transcript: ENSMUST00000026823

SMART Domains

Protein: ENSMUSP00000026823
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC
Pfam:Gpi1	274	463	5.1e-79	PFAM
transmembrane domain	478	500	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085027
AA Change: *137W

SMART Domains

Protein: ENSMUSP00000082102
Gene: ENSMUSG00000090113
AA Change: *137W

Domain	Start	End	E-Value	Type
Pfam:NHL	61	88	8.4e-8	PFAM
SCOP:d1crua_	89	129	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097368

SMART Domains

Protein: ENSMUSP00000094981
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
Pfam:Gpi1	365	523	8.6e-66	PFAM
transmembrane domain	538	560	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124032

Predicted Effect

probably benign
Transcript: ENSMUST00000139226

SMART Domains

Protein: ENSMUSP00000115447
Gene: ENSMUSG00000025728

Domain	Start	End	E-Value	Type
low complexity region	214	228	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140304

Predicted Effect

probably benign
Transcript: ENSMUST00000145745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

probably benign
Transcript: ENSMUST00000208043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148045

Predicted Effect

probably benign
Transcript: ENSMUST00000208071

Predicted Effect

probably benign
Transcript: ENSMUST00000148307

Predicted Effect

probably benign
Transcript: ENSMUST00000162431

SMART Domains

Protein: ENSMUSP00000125106
Gene: ENSMUSG00000025727

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_7	17	70	4.3e-40	PFAM
low complexity region	77	90	N/A	INTRINSIC
low complexity region	117	137	N/A	INTRINSIC
low complexity region	158	170	N/A	INTRINSIC
low complexity region	229	249	N/A	INTRINSIC
low complexity region	294	311	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148382

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	T	A	2: 22,977,507 (GRCm39)	N168K	possibly damaging	Het
Aig1	T	C	10: 13,744,418 (GRCm39)	M29V	probably damaging	Het
Albfm1	C	A	5: 90,727,473 (GRCm39)	H364N	probably damaging	Het
Apba2	A	G	7: 64,344,894 (GRCm39)	E28G	probably damaging	Het
Bglap3	T	C	3: 88,276,423 (GRCm39)	N45S	possibly damaging	Het
Cables2	A	G	2: 179,902,072 (GRCm39)		probably null	Het
Cd109	A	G	9: 78,596,237 (GRCm39)		probably benign	Het
Cdk1	T	C	10: 69,176,331 (GRCm39)	N259D	probably benign	Het
Ces1h	A	G	8: 94,078,654 (GRCm39)	*563R	probably null	Het
Cfap46	C	T	7: 139,262,425 (GRCm39)	A115T	probably damaging	Het
Cry2	A	T	2: 92,257,266 (GRCm39)	V101E	possibly damaging	Het
Cyp4a31	A	G	4: 115,421,026 (GRCm39)	Y38C	probably damaging	Het
Dip2a	T	C	10: 76,155,312 (GRCm39)	Y130C	probably benign	Het
Eps8l1	A	G	7: 4,475,123 (GRCm39)	T366A	probably benign	Het
Esr2	C	T	12: 76,192,119 (GRCm39)	R303H	probably benign	Het
Fbxo41	T	G	6: 85,455,153 (GRCm39)	L617F	possibly damaging	Het
Fbxw15	A	T	9: 109,381,723 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 103,070,024 (GRCm39)		probably benign	Het
Me1	A	T	9: 86,536,694 (GRCm39)		probably null	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Muc19	T	G	15: 91,778,428 (GRCm39)		noncoding transcript	Het
Myo15b	A	G	11: 115,764,226 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,382,490 (GRCm39)	L1264*	probably null	Het
Nrxn3	A	G	12: 88,762,123 (GRCm39)	T57A	probably damaging	Het
Or10g3	T	A	14: 52,609,934 (GRCm39)	D192V	probably damaging	Het
Orc2	A	T	1: 58,508,825 (GRCm39)		probably null	Het
Rpap2	G	A	5: 107,766,047 (GRCm39)		probably null	Het
S100a9	T	C	3: 90,602,531 (GRCm39)	H21R	probably damaging	Het
Spz1	T	A	13: 92,712,054 (GRCm39)	M141L	probably benign	Het
Stk40	A	G	4: 126,030,695 (GRCm39)	Y305C	probably damaging	Het
Stra6l	A	G	4: 45,869,588 (GRCm39)	Q218R	probably damaging	Het
T	C	A	17: 8,658,732 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,066,704 (GRCm39)	D2298G	probably damaging	Het
Trim40	A	T	17: 37,200,030 (GRCm39)	L16Q	probably benign	Het
Tubb4a	T	C	17: 57,388,538 (GRCm39)	I163V	probably benign	Het
Vwc2	T	A	11: 11,066,532 (GRCm39)	C207S	probably damaging	Het
Zfp407	A	G	18: 84,227,849 (GRCm39)	I1920T	possibly damaging	Het
Zfp429	T	C	13: 67,538,844 (GRCm39)	E200G	probably damaging	Het
Zfp451	C	T	1: 33,815,574 (GRCm39)	C792Y	probably damaging	Het

Other mutations in Nhlrc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0690:Nhlrc4	UTSW	17	26,162,658 (GRCm39)	missense	probably damaging	1.00
R3771:Nhlrc4	UTSW	17	26,162,367 (GRCm39)	nonsense	probably null
R3773:Nhlrc4	UTSW	17	26,162,367 (GRCm39)	nonsense	probably null
R4740:Nhlrc4	UTSW	17	26,162,577 (GRCm39)	missense	probably benign	0.28
R5598:Nhlrc4	UTSW	17	26,162,466 (GRCm39)	missense	probably damaging	1.00
R5930:Nhlrc4	UTSW	17	26,162,693 (GRCm39)	missense	probably benign	0.03
R6873:Nhlrc4	UTSW	17	26,162,496 (GRCm39)	nonsense	probably null
Z1176:Nhlrc4	UTSW	17	26,162,718 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16