Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01966:Calhm5'

181537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Calhm5

Ensembl Gene

ENSMUSG00000049872

Gene Name

calcium homeostasis modulator family member 5

Synonyms

Fam26e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01966

Quality Score

Status

Chromosome

Chromosomal Location

33967348-33972515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33972129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 102 (H102R)

Ref Sequence

ENSEMBL: ENSMUSP00000064462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069125] [ENSMUST00000095758]

AlphaFold

Q8R100

Predicted Effect

probably benign
Transcript: ENSMUST00000069125
AA Change: H102R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000064462
Gene: ENSMUSG00000049872
AA Change: H102R

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	1	251	2.7e-90	PFAM
low complexity region	290	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095758

SMART Domains

Protein: ENSMUSP00000093432
Gene: ENSMUSG00000071340

Domain	Start	End	E-Value	Type
Pfam:TRAPP	19	167	2.5e-36	PFAM
low complexity region	169	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220095

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	A	G	4: 155,818,526 (GRCm39)		probably null	Het
Acer2	T	A	4: 86,835,815 (GRCm39)	*230R	probably null	Het
Adamts12	A	G	15: 11,258,269 (GRCm39)	K527E	probably damaging	Het
Anks1b	C	A	10: 90,730,994 (GRCm39)	R937S	probably damaging	Het
C2cd5	G	T	6: 142,957,767 (GRCm39)	C989*	probably null	Het
Col14a1	A	G	15: 55,312,121 (GRCm39)		probably benign	Het
Cramp1	T	A	17: 25,201,917 (GRCm39)	T522S	probably benign	Het
Cyp2c70	A	T	19: 40,142,016 (GRCm39)		probably benign	Het
Elmod1	T	A	9: 53,828,611 (GRCm39)	I224F	probably benign	Het
Emx2	T	A	19: 59,448,021 (GRCm39)	I24N	possibly damaging	Het
Fga	A	T	3: 82,936,461 (GRCm39)	I86F	probably damaging	Het
Fig4	C	A	10: 41,108,098 (GRCm39)		probably null	Het
Gm10234	T	C	6: 95,299,118 (GRCm39)		probably null	Het
Gm12588	A	T	11: 121,797,561 (GRCm39)	I96N	probably benign	Het
Grm3	A	G	5: 9,561,486 (GRCm39)	I788T	probably damaging	Het
Homer3	A	G	8: 70,742,807 (GRCm39)	K173E	probably damaging	Het
Kansl1l	A	G	1: 66,777,227 (GRCm39)	V635A	probably damaging	Het
Kctd3	C	T	1: 188,724,859 (GRCm39)	G241R	probably damaging	Het
Krt8	G	T	15: 101,906,105 (GRCm39)	S423R	probably benign	Het
Lrrc24	C	A	15: 76,602,511 (GRCm39)	A125S	probably benign	Het
Muc4	T	C	16: 32,570,244 (GRCm39)	S435P	possibly damaging	Het
Nfkb2	G	A	19: 46,298,129 (GRCm39)	G502D	probably benign	Het
Nlrp6	G	A	7: 140,505,103 (GRCm39)	C750Y	probably damaging	Het
Or8b1b	A	T	9: 38,376,225 (GRCm39)	D296V	possibly damaging	Het
Oxsm	T	C	14: 16,242,520 (GRCm38)	N83S	probably benign	Het
Paqr3	A	G	5: 97,247,502 (GRCm39)	L202P	probably benign	Het
Pcdh10	T	A	3: 45,334,733 (GRCm39)	L349Q	probably benign	Het
Ptdss2	A	G	7: 140,715,304 (GRCm39)	T29A	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,782 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,272,789 (GRCm39)		probably benign	Het
Ric1	A	T	19: 29,572,963 (GRCm39)	Y801F	probably benign	Het
Sgcz	A	T	8: 38,107,169 (GRCm39)	S114R	probably damaging	Het
Tenm4	A	G	7: 96,202,757 (GRCm39)	D124G	probably damaging	Het
Zscan22	T	G	7: 12,640,398 (GRCm39)	M214R	probably benign	Het

Other mutations in Calhm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Calhm5	APN	10	33,968,198 (GRCm39)	missense	possibly damaging	0.83
IGL02090:Calhm5	APN	10	33,972,261 (GRCm39)	missense	probably damaging	1.00
R0781:Calhm5	UTSW	10	33,972,013 (GRCm39)	missense	probably benign	0.00
R1110:Calhm5	UTSW	10	33,972,013 (GRCm39)	missense	probably benign	0.00
R5214:Calhm5	UTSW	10	33,968,487 (GRCm39)	missense	probably damaging	0.99
R5705:Calhm5	UTSW	10	33,971,989 (GRCm39)	missense	probably damaging	1.00
R5934:Calhm5	UTSW	10	33,968,198 (GRCm39)	missense	possibly damaging	0.83
R6489:Calhm5	UTSW	10	33,968,502 (GRCm39)	missense	probably damaging	1.00
R6863:Calhm5	UTSW	10	33,968,451 (GRCm39)	missense	probably benign	0.01
R6873:Calhm5	UTSW	10	33,968,448 (GRCm39)	missense	probably damaging	1.00
R6995:Calhm5	UTSW	10	33,972,189 (GRCm39)	missense	probably benign
R7169:Calhm5	UTSW	10	33,968,160 (GRCm39)	missense	probably damaging	1.00
R8263:Calhm5	UTSW	10	33,972,192 (GRCm39)	missense	probably damaging	0.98
R8327:Calhm5	UTSW	10	33,972,064 (GRCm39)	missense	probably damaging	1.00
R8915:Calhm5	UTSW	10	33,968,415 (GRCm39)	missense	probably benign	0.20
R9105:Calhm5	UTSW	10	33,968,144 (GRCm39)	missense	probably benign	0.00
R9438:Calhm5	UTSW	10	33,972,049 (GRCm39)	missense	probably benign	0.00
Z1177:Calhm5	UTSW	10	33,972,325 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07