Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02568:Nccrp1'

298926

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nccrp1

Ensembl Gene

ENSMUSG00000047586

Gene Name

non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)

Synonyms

LOC233038, 1190020J12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02568

Quality Score

Status

Chromosome

Chromosomal Location

28243021-28246679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28243905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 226 (A226V)

Ref Sequence

ENSEMBL: ENSMUSP00000055562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000057974] [ENSMUST00000119180]

AlphaFold

G3X9C2

Predicted Effect

probably benign
Transcript: ENSMUST00000040531

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

Domain	Start	End	E-Value	Type
low complexity region	81	90	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	278	290	N/A	INTRINSIC
SAM	296	359	1.02e-9	SMART
low complexity region	406	420	N/A	INTRINSIC
low complexity region	433	461	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000057974
AA Change: A226V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000055562
Gene: ENSMUSG00000047586
AA Change: A226V

Domain	Start	End	E-Value	Type
low complexity region	51	72	N/A	INTRINSIC
FBA	108	289	1.07e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119180

SMART Domains

Protein: ENSMUSP00000112770
Gene: ENSMUSG00000084174

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Syncollin	22	133	9.9e-61	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,033,184 (GRCm39)		probably benign	Het
Abcg5	C	T	17: 84,977,827 (GRCm39)	R143Q	probably damaging	Het
Arap3	G	A	18: 38,129,711 (GRCm39)	T150I	probably benign	Het
Arhgap32	T	C	9: 32,158,490 (GRCm39)	V175A	probably damaging	Het
Bpifb3	A	G	2: 153,766,721 (GRCm39)	E208G	probably benign	Het
C2	T	A	17: 35,083,325 (GRCm39)	D518V	possibly damaging	Het
C6	T	A	15: 4,820,646 (GRCm39)	C552*	probably null	Het
Ccdc38	A	T	10: 93,415,685 (GRCm39)	D447V	probably damaging	Het
Cept1	C	T	3: 106,411,035 (GRCm39)	R386H	probably benign	Het
Comt	A	G	16: 18,230,454 (GRCm39)	V85A	probably damaging	Het
Ddx24	G	T	12: 103,383,571 (GRCm39)	L627I	probably damaging	Het
Efemp1	T	C	11: 28,866,971 (GRCm39)		probably null	Het
Etf1	T	C	18: 35,046,714 (GRCm39)	T99A	possibly damaging	Het
Fhad1	T	C	4: 141,660,105 (GRCm39)	E68G	probably null	Het
Fzd3	C	A	14: 65,473,389 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,606 (GRCm39)	F119L	probably benign	Het
Golga5	G	T	12: 102,438,338 (GRCm39)	V18L	probably benign	Het
Il16	C	A	7: 83,310,484 (GRCm39)	R474M	probably damaging	Het
Itpr1	C	A	6: 108,316,515 (GRCm39)	Q71K	possibly damaging	Het
Kif21b	T	G	1: 136,100,605 (GRCm39)	L1562R	probably damaging	Het
Lamc2	T	C	1: 153,042,008 (GRCm39)	E42G	possibly damaging	Het
Mmp3	T	G	9: 7,446,001 (GRCm39)	L35R	probably benign	Het
Naip6	C	A	13: 100,452,780 (GRCm39)	G94W	probably damaging	Het
Nckap5l	A	G	15: 99,323,564 (GRCm39)	Y980H	probably damaging	Het
Ncoa3	T	C	2: 165,911,277 (GRCm39)	S1345P	probably damaging	Het
Nop2	T	C	6: 125,117,813 (GRCm39)	S455P	probably damaging	Het
Nup93	T	C	8: 95,036,263 (GRCm39)	F689S	probably damaging	Het
Or5b112	T	C	19: 13,319,583 (GRCm39)	F154L	probably benign	Het
Plekhm1	T	A	11: 103,285,876 (GRCm39)	E186D	probably damaging	Het
Plxdc1	T	C	11: 97,869,390 (GRCm39)	Q66R	probably damaging	Het
Prkdc	T	G	16: 15,544,406 (GRCm39)	Y1799D	probably damaging	Het
Rasa2	A	G	9: 96,462,563 (GRCm39)	F220L	probably damaging	Het
Rftn1	T	C	17: 50,344,027 (GRCm39)	D87G	probably damaging	Het
Rgs6	C	T	12: 83,117,376 (GRCm39)	T266M	probably benign	Het
Sec16a	A	G	2: 26,326,054 (GRCm39)	Y1208H	probably damaging	Het
Slc12a1	G	T	2: 125,026,648 (GRCm39)	V428L	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Svep1	T	A	4: 58,135,441 (GRCm39)	T556S	probably benign	Het
Tanc2	T	A	11: 105,667,777 (GRCm39)	N119K	probably benign	Het
Tpgs1	T	A	10: 79,505,238 (GRCm39)		probably benign	Het
Tpm3-rs7	A	G	14: 113,552,370 (GRCm39)	E88G	probably damaging	Het
Tsr1	T	C	11: 74,791,204 (GRCm39)	V261A	probably benign	Het
Usp18	C	T	6: 121,238,050 (GRCm39)	T143I	probably benign	Het
Vmn2r24	T	C	6: 123,792,812 (GRCm39)	I713T	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Nccrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Nccrp1	APN	7	28,246,191 (GRCm39)	missense	probably damaging	0.99
R0105:Nccrp1	UTSW	7	28,246,463 (GRCm39)	missense	probably benign	0.22
R0365:Nccrp1	UTSW	7	28,243,977 (GRCm39)	missense	probably damaging	0.99
R2114:Nccrp1	UTSW	7	28,246,334 (GRCm39)	missense	probably benign	0.15
R4094:Nccrp1	UTSW	7	28,243,651 (GRCm39)	missense	possibly damaging	0.84
R4660:Nccrp1	UTSW	7	28,245,760 (GRCm39)	missense	probably damaging	1.00
R8712:Nccrp1	UTSW	7	28,245,769 (GRCm39)	missense	probably benign	0.39
R8955:Nccrp1	UTSW	7	28,245,628 (GRCm39)	missense	probably benign	0.21
R9258:Nccrp1	UTSW	7	28,245,632 (GRCm39)	missense	probably damaging	1.00
Z1186:Nccrp1	UTSW	7	28,246,461 (GRCm39)	missense	probably benign

Posted On

2015-04-16