Mutagenetix > Incidental Mutation

Incidental Mutation 'R6948:Calhm3'

540992

Institutional Source

Beutler Lab

Gene Symbol

Calhm3

Ensembl Gene

ENSMUSG00000094219

Gene Name

calcium homeostasis modulator 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R6948 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47140138-47146203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47140344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 250 (M250L)

Ref Sequence

ENSEMBL: ENSMUSP00000136302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178630]

AlphaFold

J3QMI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000178630
AA Change: M250L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136302
Gene: ENSMUSG00000094219
AA Change: M250L

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	1	252	1.9e-103	PFAM
low complexity region	268	278	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	A	G	2: 91,097,524 (GRCm39)	T107A	probably benign	Het
Catsperb	A	T	12: 101,447,327 (GRCm39)	I276L	probably benign	Het
Cd70	T	C	17: 57,456,594 (GRCm39)	E3G	probably damaging	Het
Cenpj	A	T	14: 56,790,683 (GRCm39)	S455R	probably damaging	Het
Cgn	C	G	3: 94,680,531 (GRCm39)	E590D	probably benign	Het
Cpvl	T	A	6: 53,873,468 (GRCm39)	I423F	possibly damaging	Het
Cyp2c54	T	A	19: 40,034,636 (GRCm39)	M345L	possibly damaging	Het
Dner	T	C	1: 84,383,738 (GRCm39)	N549D	probably damaging	Het
Fat4	T	A	3: 39,063,595 (GRCm39)	L4517Q	probably damaging	Het
Fbxw11	A	G	11: 32,692,597 (GRCm39)	T523A	probably damaging	Het
Flg	A	G	3: 93,195,475 (GRCm39)		probably benign	Het
Gcfc2	A	G	6: 81,910,734 (GRCm39)	E237G	probably benign	Het
Ipo5	G	T	14: 121,160,527 (GRCm39)	M181I	probably benign	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Klhl32	A	G	4: 24,629,250 (GRCm39)	Y506H	probably benign	Het
Mast3	G	A	8: 71,238,126 (GRCm39)	T505I	probably damaging	Het
Mrgprx2	A	T	7: 48,132,464 (GRCm39)	V118D	possibly damaging	Het
Mtor	T	G	4: 148,621,209 (GRCm39)	V1869G	probably benign	Het
Mycbp2	A	T	14: 103,522,703 (GRCm39)	M720K	possibly damaging	Het
Npy4r	A	G	14: 33,868,731 (GRCm39)	Y186H	probably benign	Het
Obscn	A	G	11: 58,997,142 (GRCm39)	S1520P	probably damaging	Het
Or10g1b	A	T	14: 52,627,614 (GRCm39)	F205L	probably benign	Het
Pex1	A	G	5: 3,655,994 (GRCm39)	N274D	probably benign	Het
Plxnb1	T	C	9: 108,945,702 (GRCm39)	Y2078H	probably damaging	Het
Rasgrp1	T	C	2: 117,129,085 (GRCm39)	D178G	probably damaging	Het
Reln	A	G	5: 22,177,033 (GRCm39)	S1878P	probably damaging	Het
Rims2	T	C	15: 39,374,737 (GRCm39)	V1033A	probably benign	Het
Scaf1	G	T	7: 44,662,971 (GRCm39)	S14*	probably null	Het
Serpinb9d	A	G	13: 33,384,706 (GRCm39)	S228G	possibly damaging	Het
Slc22a14	C	A	9: 119,060,482 (GRCm39)	A93S	probably damaging	Het
Sox30	G	A	11: 45,908,166 (GRCm39)	V778M	probably damaging	Het
Tecrl	T	C	5: 83,457,097 (GRCm39)	I128V	probably benign	Het
Trip10	T	A	17: 57,569,448 (GRCm39)	C491S	probably damaging	Het
Vmn1r26	A	T	6: 57,985,718 (GRCm39)	M157K	probably damaging	Het
Zbtb1	A	T	12: 76,432,601 (GRCm39)	S196C	probably damaging	Het
Zfp236	T	C	18: 82,662,187 (GRCm39)	D582G	possibly damaging	Het
Zfp384	A	G	6: 125,001,873 (GRCm39)	T125A	probably benign	Het
Zpr1	T	G	9: 46,184,939 (GRCm39)		probably null	Het

Other mutations in Calhm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Calhm3	UTSW	19	47,140,335 (GRCm39)	frame shift	probably null
R1203:Calhm3	UTSW	19	47,143,839 (GRCm39)	missense	probably damaging	1.00
R1863:Calhm3	UTSW	19	47,140,539 (GRCm39)	missense	probably damaging	1.00
R1911:Calhm3	UTSW	19	47,143,908 (GRCm39)	missense	possibly damaging	0.74
R1951:Calhm3	UTSW	19	47,140,256 (GRCm39)	missense	probably benign	0.00
R2089:Calhm3	UTSW	19	47,140,430 (GRCm39)	missense	probably damaging	1.00
R2091:Calhm3	UTSW	19	47,140,430 (GRCm39)	missense	probably damaging	1.00
R2091:Calhm3	UTSW	19	47,140,430 (GRCm39)	missense	probably damaging	1.00
R2273:Calhm3	UTSW	19	47,145,986 (GRCm39)	missense	probably damaging	0.96
R2274:Calhm3	UTSW	19	47,145,986 (GRCm39)	missense	probably damaging	0.96
R2436:Calhm3	UTSW	19	47,140,404 (GRCm39)	missense	probably damaging	1.00
R3702:Calhm3	UTSW	19	47,140,187 (GRCm39)	missense	possibly damaging	0.88
R5758:Calhm3	UTSW	19	47,140,190 (GRCm39)	missense	probably damaging	0.99
R5901:Calhm3	UTSW	19	47,146,052 (GRCm39)	missense	probably damaging	1.00
R5938:Calhm3	UTSW	19	47,140,516 (GRCm39)	missense	probably damaging	1.00
R9190:Calhm3	UTSW	19	47,146,121 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTACTGAGGAGTTGATCCACC -3'
(R):5'- ACCGTGTGCAATACCAGAG -3'

Sequencing Primer
(F):5'- GAGTTGATCCACCTGCTCCCG -3'
(R):5'- CATCGGCTGGAGTATAACCTTGC -3'

Posted On

2018-11-28