Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00229:Calr4'

2430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Calr4

Ensembl Gene

ENSMUSG00000028558

Gene Name

calreticulin 4

Synonyms

4933403L16Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

109234485-109254571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109244115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 65 (I65F)

Ref Sequence

ENSEMBL: ENSMUSP00000102242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030285] [ENSMUST00000106628] [ENSMUST00000106629] [ENSMUST00000106631]

AlphaFold

Q3TQS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030285
AA Change: I172F

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

SMART Domains

Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558
AA Change: I172F

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	11	246	7e-61	PFAM
Pfam:Calreticulin	243	318	1.7e-21	PFAM
coiled coil region	336	416	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106628
AA Change: I65F

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

SMART Domains

Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558
AA Change: I65F

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	1	211	6.4e-77	PFAM
coiled coil region	229	309	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106629
AA Change: I65F

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

SMART Domains

Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558
AA Change: I65F

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	1	211	6.4e-77	PFAM
coiled coil region	229	309	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106631
AA Change: I65F

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

SMART Domains

Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558
AA Change: I65F

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	1	211	6.4e-77	PFAM
coiled coil region	229	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141555

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Calr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Calr4	APN	4	109253874	missense	probably benign	0.41
IGL01676:Calr4	APN	4	109244250	missense	probably damaging	0.99
IGL02587:Calr4	APN	4	109238937	missense	possibly damaging	0.76
PIT4576001:Calr4	UTSW	4	109235856	missense	possibly damaging	0.82
R0525:Calr4	UTSW	4	109242264	splice site	probably benign
R1444:Calr4	UTSW	4	109246241	missense	possibly damaging	0.76
R1899:Calr4	UTSW	4	109246293	critical splice donor site	probably null
R4561:Calr4	UTSW	4	109246182	missense	probably damaging	0.97
R5001:Calr4	UTSW	4	109238982	critical splice donor site	probably null
R5014:Calr4	UTSW	4	109235797	nonsense	probably null
R5088:Calr4	UTSW	4	109244662	intron	probably benign
R5267:Calr4	UTSW	4	109244076	missense	probably damaging	1.00
R6175:Calr4	UTSW	4	109244245	missense	probably benign	0.03
R6262:Calr4	UTSW	4	109251367	missense	probably damaging	1.00
R6795:Calr4	UTSW	4	109244788	missense	probably damaging	1.00
R7099:Calr4	UTSW	4	109242229	missense	probably benign	0.01
R7202:Calr4	UTSW	4	109244057	missense	possibly damaging	0.94
R7576:Calr4	UTSW	4	109238964	missense	probably benign	0.37
R7661:Calr4	UTSW	4	109253754	missense	probably benign
Z1177:Calr4	UTSW	4	109235733	missense	probably benign	0.02

Posted On

2011-12-09