Mutagenetix > Incidental Mutation

Incidental Mutation 'R6873:Calhm5'

536265

Institutional Source

Beutler Lab

Gene Symbol

Calhm5

Ensembl Gene

ENSMUSG00000049872

Gene Name

calcium homeostasis modulator family member 5

Synonyms

Fam26e

MMRRC Submission

044970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6873 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33967348-33972515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 33968448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 202 (R202G)

Ref Sequence

ENSEMBL: ENSMUSP00000064462 (fasta)

Gene Model

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

AlphaFold

Q8R100

Predicted Effect

probably damaging
Transcript: ENSMUST00000069125
AA Change: R202G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064462
Gene: ENSMUSG00000049872
AA Change: R202G

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

Meta Mutation Damage Score

0.2320

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	G	12: 112,599,138 (GRCm39)	D123G	probably benign	Het
Agbl4	A	G	4: 111,423,856 (GRCm39)	D294G	possibly damaging	Het
Apob	G	T	12: 8,065,995 (GRCm39)	M4288I	probably benign	Het
Arnt	T	G	3: 95,381,886 (GRCm39)	F160V	probably damaging	Het
Atp5f1a	C	T	18: 77,863,540 (GRCm39)	R42*	probably null	Het
Bhlha15	A	G	5: 144,128,203 (GRCm39)	D105G	probably benign	Het
C6	A	G	15: 4,820,461 (GRCm39)	T491A	probably benign	Het
Caskin1	A	G	17: 24,723,153 (GRCm39)	E647G	probably benign	Het
Col11a2	A	G	17: 34,283,993 (GRCm39)	D1579G	unknown	Het
Dctn2	T	G	10: 127,112,105 (GRCm39)		probably null	Het
Eqtn	A	G	4: 94,815,258 (GRCm39)	V80A	probably damaging	Het
Etl4	A	G	2: 20,802,803 (GRCm39)		probably null	Het
Fbxo10	T	C	4: 45,041,787 (GRCm39)	D814G	possibly damaging	Het
Galnt10	A	G	11: 57,672,045 (GRCm39)	D445G	probably damaging	Het
Gm6309	T	C	5: 146,104,998 (GRCm39)	D305G	probably damaging	Het
Grap2	G	A	15: 80,527,874 (GRCm39)	V107I	probably damaging	Het
Igsf10	C	T	3: 59,235,865 (GRCm39)	A1439T	probably benign	Het
Krt5	G	A	15: 101,621,312 (GRCm39)		probably benign	Het
Lancl2	A	G	6: 57,699,642 (GRCm39)	I152M	possibly damaging	Het
Mast3	A	T	8: 71,239,236 (GRCm39)	C447*	probably null	Het
Mef2b	A	G	8: 70,618,957 (GRCm39)	I180V	probably benign	Het
Mon1b	T	C	8: 114,368,697 (GRCm39)	Y533H	probably damaging	Het
Mst1r	A	T	9: 107,788,843 (GRCm39)	H454L	possibly damaging	Het
Nhlrc4	G	A	17: 26,162,496 (GRCm39)	Q84*	probably null	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Nlrp6	T	C	7: 140,503,433 (GRCm39)	I513T	probably benign	Het
Or1j12	A	T	2: 36,343,508 (GRCm39)	I304F	probably benign	Het
Or2n1	A	T	17: 38,486,259 (GRCm39)	M95L	probably benign	Het
Or4c108	T	C	2: 88,803,768 (GRCm39)	T156A	probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pfkfb4	A	C	9: 108,839,403 (GRCm39)		probably null	Het
Setbp1	A	G	18: 78,902,774 (GRCm39)	S298P	probably benign	Het
Sh3bgr	A	C	16: 96,007,691 (GRCm39)	K19Q	probably damaging	Het
Slc35c2	T	C	2: 165,124,729 (GRCm39)	D82G	possibly damaging	Het
Spata13	T	A	14: 60,929,406 (GRCm39)	D321E	probably benign	Het
Stab2	A	G	10: 86,697,230 (GRCm39)		probably null	Het
Sulf2	T	A	2: 165,931,195 (GRCm39)	I271F	probably damaging	Het
Sult2a5	A	T	7: 13,359,311 (GRCm39)	I96L	probably benign	Het
Sv2b	A	G	7: 74,855,954 (GRCm39)	F112S	probably damaging	Het
Sycp1	G	A	3: 102,748,296 (GRCm39)	T832I	probably benign	Het
Tm9sf2	A	T	14: 122,382,525 (GRCm39)	E179V	probably damaging	Het
Tmem209	A	G	6: 30,508,455 (GRCm39)	I66T	probably damaging	Het
Tspan10	T	C	11: 120,335,549 (GRCm39)	W220R	probably damaging	Het
Ttc39b	G	C	4: 83,164,513 (GRCm39)	N266K	probably damaging	Het
Uri1	A	T	7: 37,664,764 (GRCm39)	D309E	probably benign	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	probably damaging	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
IGL01966:Calhm5	APN	10	33,972,129 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGCTCACGGTCTTGATGG -3'
(R):5'- CCTTTGCATAGCAGTAATGTTGAG -3'

Sequencing Primer
(F):5'- AGTGTAGCTCGGATGCAGC -3'
(R):5'- AGAAAATGACTATTGAGTTGACTCTC -3'

Posted On

2018-10-18