Mutagenetix > Incidental Mutation

Incidental Mutation 'R5598:Nhlrc4'

437946

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc4

Ensembl Gene

ENSMUSG00000090113

Gene Name

NHL repeat containing 4

Synonyms

F430201B04Rik

MMRRC Submission

043150-MU

Accession Numbers

Essential gene?

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

Stock #

R5598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26161207-26163905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26162466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 94 (P94S)

Ref Sequence

ENSEMBL: ENSMUSP00000082102 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000085027
AA Change: P94S

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

SMART Domains

Protein: ENSMUSP00000082102
Gene: ENSMUSG00000090113
AA Change: P94S

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: ENSMUST00000180868

Predicted Effect

probably benign
Transcript: ENSMUST00000208043

Predicted Effect

probably benign
Transcript: ENSMUST00000208071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148045

Predicted Effect

probably benign
Transcript: ENSMUST00000148307

Predicted Effect

probably benign
Transcript: ENSMUST00000148382

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,025,645 (GRCm39)	D550G	probably damaging	Het
Ano6	A	G	15: 95,839,228 (GRCm39)	T457A	probably damaging	Het
Ano8	A	G	8: 71,935,221 (GRCm39)	V359A	probably damaging	Het
Aqp2	G	T	15: 99,476,993 (GRCm39)		probably benign	Het
Atp13a5	C	T	16: 29,075,829 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccr1l1	A	G	9: 123,778,030 (GRCm39)	V139A	probably benign	Het
Cecr2	A	G	6: 120,708,407 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,310,119 (GRCm39)	V1537A	possibly damaging	Het
Chd6	T	A	2: 160,856,032 (GRCm39)	K741N	probably damaging	Het
Chrna1	T	A	2: 73,397,075 (GRCm39)	T405S	probably benign	Het
Cish	T	C	9: 107,174,227 (GRCm39)	V5A	possibly damaging	Het
Cmss1	C	A	16: 57,131,649 (GRCm39)	C159F	probably damaging	Het
Col1a2	A	G	6: 4,516,916 (GRCm39)		probably benign	Het
Cradd	G	T	10: 95,011,666 (GRCm39)	S158*	probably null	Het
Dmxl1	G	A	18: 49,997,545 (GRCm39)	A578T	probably benign	Het
Drd2	A	G	9: 49,318,315 (GRCm39)	N419S	possibly damaging	Het
E4f1	T	C	17: 24,666,103 (GRCm39)	T232A	probably damaging	Het
Fat2	T	A	11: 55,171,956 (GRCm39)	E2919V	probably damaging	Het
Gc	T	C	5: 89,586,309 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hsd11b2	G	A	8: 106,249,143 (GRCm39)	V173I	probably benign	Het
Kdm6b	C	T	11: 69,296,900 (GRCm39)	A456T	probably damaging	Het
Kif18b	G	A	11: 102,799,015 (GRCm39)	P729S	possibly damaging	Het
Lgi1	A	G	19: 38,294,629 (GRCm39)	D467G	possibly damaging	Het
Loxl1	A	G	9: 58,219,650 (GRCm39)	Y174H	possibly damaging	Het
Mtus1	A	T	8: 41,475,592 (GRCm39)	I824N	probably damaging	Het
Myrf	C	T	19: 10,192,654 (GRCm39)	E622K	probably benign	Het
Ncam1	A	G	9: 49,457,051 (GRCm39)	Y416H	probably damaging	Het
Nceh1	A	G	3: 27,280,248 (GRCm39)	T132A	probably benign	Het
Or2v1	C	G	11: 49,025,941 (GRCm39)	D307E	probably benign	Het
Or52s1b	A	T	7: 102,822,841 (GRCm39)	M1K	probably null	Het
Or8b1	A	T	9: 38,399,821 (GRCm39)	R165S	possibly damaging	Het
Pcdhac2	A	G	18: 37,277,476 (GRCm39)	Y152C	probably damaging	Het
Pdia3	C	A	2: 121,244,611 (GRCm39)	T8K	possibly damaging	Het
Pogz	T	A	3: 94,771,820 (GRCm39)	V304E	probably damaging	Het
Snrnp200	A	G	2: 127,068,007 (GRCm39)	S835G	possibly damaging	Het
Susd4	T	C	1: 182,719,635 (GRCm39)	S417P	probably benign	Het
Thsd7b	G	A	1: 129,523,578 (GRCm39)	R127H	probably damaging	Het
Tmco4	A	G	4: 138,781,216 (GRCm39)	D460G	probably damaging	Het
Ttll9	T	A	2: 152,826,234 (GRCm39)	M148K	probably damaging	Het
Ubn2	G	A	6: 38,467,323 (GRCm39)	C677Y	probably benign	Het
Vmn2r98	T	C	17: 19,301,161 (GRCm39)	I721T	probably benign	Het
Wdfy4	C	A	14: 32,855,454 (GRCm39)	C720F	probably damaging	Het
Zzef1	G	A	11: 72,807,347 (GRCm39)	D2742N	probably damaging	Het

Other mutations in Nhlrc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Nhlrc4	APN	17	26,162,335 (GRCm39)	makesense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTATCAGGAAGACGGCTCAG -3'
(R):5'- AGAGTTTGGGGATGTACAGC -3'

Sequencing Primer
(F):5'- TTCCATGATAGTACAAAGGACTCAGG -3'
(R):5'- ACAGCTGTTTGGCAGTGC -3'

Posted On

2016-10-26