Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Calhm6'

328706

Institutional Source

Beutler Lab

Gene Symbol

Calhm6

Ensembl Gene

ENSMUSG00000046031

Gene Name

calcium homeostasis modulator family member 6

Synonyms

Fam26f, A630077B13Rik

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34002063-34003968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34003827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 27 (T27S)

Ref Sequence

ENSEMBL: ENSMUSP00000051575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062784]

AlphaFold

Q8C9E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062784
AA Change: T27S

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

SMART Domains

Protein: ENSMUSP00000051575
Gene: ENSMUSG00000046031
AA Change: T27S

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	1	244	1.4e-94	PFAM

Meta Mutation Damage Score

0.4299

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Calhm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Calhm6	APN	10	34,002,361 (GRCm39)	missense	probably benign	0.00
IGL01860:Calhm6	APN	10	34,002,561 (GRCm39)	missense	probably damaging	1.00
IGL01992:Calhm6	APN	10	34,003,533 (GRCm39)	missense	probably damaging	1.00
IGL02484:Calhm6	APN	10	34,002,400 (GRCm39)	missense	probably benign	0.03
IGL02579:Calhm6	APN	10	34,003,423 (GRCm39)	missense	probably benign	0.01
R0492:Calhm6	UTSW	10	34,003,647 (GRCm39)	nonsense	probably null
R1681:Calhm6	UTSW	10	34,003,896 (GRCm39)	missense	probably benign	0.22
R2090:Calhm6	UTSW	10	34,002,358 (GRCm39)	missense	probably damaging	0.99
R2141:Calhm6	UTSW	10	34,003,691 (GRCm39)	missense	probably damaging	0.97
R4455:Calhm6	UTSW	10	34,002,531 (GRCm39)	missense	probably damaging	0.97
R7620:Calhm6	UTSW	10	34,003,614 (GRCm39)	missense	probably damaging	0.98
R8514:Calhm6	UTSW	10	34,002,399 (GRCm39)	missense	possibly damaging	0.94
R9155:Calhm6	UTSW	10	34,002,363 (GRCm39)	missense	probably damaging	0.99
R9786:Calhm6	UTSW	10	34,003,643 (GRCm39)	missense	probably benign	0.00
R9792:Calhm6	UTSW	10	34,002,544 (GRCm39)	missense	probably damaging	0.99
R9795:Calhm6	UTSW	10	34,002,544 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATTGGTAGAAAGAGCCCTCG -3'
(R):5'- TTTGTGGGACTTTACCAGAACTG -3'

Sequencing Primer
(F):5'- AACTGAATCGCGCGCTC -3'
(R):5'- CCTTTTTGAAAGTTGCTTCAAAGCAC -3'

Posted On

2015-07-21