Mutagenetix > Incidental Mutation

Incidental Mutation 'R9438:Calhm5'

713384

Institutional Source

Beutler Lab

Gene Symbol

Calhm5

Ensembl Gene

ENSMUSG00000049872

Gene Name

calcium homeostasis modulator family member 5

Synonyms

Fam26e

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33967348-33972515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33972049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 129 (M129V)

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: M129V

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

SMART Domains

Protein: ENSMUSP00000064462
Gene: ENSMUSG00000049872
AA Change: M129V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	G	A	2: 91,033,339 (GRCm39)	M20I	probably benign	Het
Adgra1	C	T	7: 139,432,525 (GRCm39)	P121L	probably benign	Het
Arhgap39	C	A	15: 76,636,118 (GRCm39)	R39L	probably damaging	Het
Atp1b3	A	T	9: 96,215,631 (GRCm39)	N261K	possibly damaging	Het
Atp8b3	C	T	10: 80,361,409 (GRCm39)	A838T	probably damaging	Het
Cacng8	G	A	7: 3,463,919 (GRCm39)	S357N	unknown	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cdk19	T	A	10: 40,352,176 (GRCm39)	D319E	probably damaging	Het
Chd6	A	G	2: 160,799,078 (GRCm39)	S2336P	probably benign	Het
Cntn1	G	A	15: 92,144,024 (GRCm39)		probably null	Het
Cts6	G	A	13: 61,350,069 (GRCm39)	T4I	probably benign	Het
Ddt	A	T	10: 75,607,332 (GRCm39)	I98N	probably damaging	Het
Diaph1	A	C	18: 38,026,443 (GRCm39)	V465G	unknown	Het
Dnah2	G	T	11: 69,364,220 (GRCm39)	D2064E	probably damaging	Het
Dnmt1	T	C	9: 20,827,190 (GRCm39)	N969D	probably benign	Het
Dot1l	T	A	10: 80,627,120 (GRCm39)	V1447E	probably benign	Het
Efs	T	A	14: 55,156,868 (GRCm39)	D389V		Het
Gbp11	T	A	5: 105,474,471 (GRCm39)	K402*	probably null	Het
Grm7	A	T	6: 111,231,077 (GRCm39)	D500V	possibly damaging	Het
Hecw1	T	C	13: 14,481,414 (GRCm39)	M439V	probably benign	Het
Ice1	A	G	13: 70,754,434 (GRCm39)	S551P	probably benign	Het
Igsf9b	T	C	9: 27,243,839 (GRCm39)	S779P	probably benign	Het
Itpr2	T	C	6: 146,068,166 (GRCm39)	N2437S	probably benign	Het
Kbtbd12	G	A	6: 88,591,040 (GRCm39)	Q391*	probably null	Het
Kcnma1	T	C	14: 23,417,653 (GRCm39)	I859V	probably benign	Het
Klri1	A	C	6: 129,675,879 (GRCm39)	D130E	probably benign	Het
Krt9	A	G	11: 100,079,824 (GRCm39)	Y523H	unknown	Het
Ldhc	G	T	7: 46,515,857 (GRCm39)	V51F	possibly damaging	Het
Macf1	G	T	4: 123,279,366 (GRCm39)	D5890E	probably benign	Het
Map4k4	A	G	1: 40,045,952 (GRCm39)	S613G	probably damaging	Het
Mrpl55	A	G	11: 59,096,581 (GRCm39)	D118G	probably damaging	Het
Muc16	T	C	9: 18,559,028 (GRCm39)	T2422A	unknown	Het
Nfkbib	T	A	7: 28,459,654 (GRCm39)	D219V	probably damaging	Het
Nsd2	A	G	5: 34,000,632 (GRCm39)	K50E	probably damaging	Het
Nudcd1	C	T	15: 44,269,321 (GRCm39)	R113H	probably benign	Het
Or5p55	A	T	7: 107,567,000 (GRCm39)	Y132F	probably damaging	Het
Or7e170	C	T	9: 19,795,083 (GRCm39)	E173K	probably benign	Het
Or7g19	T	A	9: 18,856,326 (GRCm39)	C127*	probably null	Het
Papln	A	T	12: 83,818,606 (GRCm39)	T63S	probably benign	Het
Pax4	T	C	6: 28,446,185 (GRCm39)	I103V	possibly damaging	Het
Pitpnm2	G	A	5: 124,269,342 (GRCm39)	H427Y	probably damaging	Het
Plk5	T	A	10: 80,193,867 (GRCm39)	V52E	probably damaging	Het
Prr23a4	G	A	9: 98,785,833 (GRCm39)	S166N	probably benign	Het
Rab44	A	G	17: 29,364,226 (GRCm39)	H600R	unknown	Het
Rbbp6	G	A	7: 122,599,456 (GRCm39)	V1256I		Het
Rexo1	T	A	10: 80,378,848 (GRCm39)	T1063S	possibly damaging	Het
Rp1l1	A	G	14: 64,265,574 (GRCm39)	R387G	possibly damaging	Het
Rufy3	T	C	5: 88,796,124 (GRCm39)	S603P	probably benign	Het
Setd1b	A	G	5: 123,285,944 (GRCm39)	H330R	unknown	Het
Strc	A	T	2: 121,198,647 (GRCm39)	W1415R	probably damaging	Het
Tcstv5	A	G	13: 120,411,363 (GRCm39)	L81P	probably benign	Het
Terf2	C	A	8: 107,803,504 (GRCm39)	A359S	probably benign	Het
Tmod1	A	G	4: 46,093,958 (GRCm39)	N223S	probably damaging	Het
Tram2	T	A	1: 21,075,834 (GRCm39)	I195F	possibly damaging	Het
Trap1	T	C	16: 3,883,131 (GRCm39)	Q148R	probably benign	Het
Tsks	C	T	7: 44,607,095 (GRCm39)	R143*	probably null	Het
Ttc14	T	A	3: 33,858,861 (GRCm39)	H373Q	probably damaging	Het
Ttn	T	C	2: 76,747,748 (GRCm39)	K4434E	probably benign	Het
Usp7	T	C	16: 8,522,833 (GRCm39)	D347G	probably benign	Het
Vps13d	T	C	4: 144,858,314 (GRCm39)	E2170G		Het
Xrn1	T	C	9: 95,893,287 (GRCm39)	I1001T	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
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
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
Z1177:Calhm5	UTSW	10	33,972,325 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGACTCAGACTCTGACGG -3'
(R):5'- AGGCATGGAGACTCTTCACTG -3'

Sequencing Primer
(F):5'- GCCAGAGAAGTTCCCACTAGG -3'
(R):5'- ACTGGCTGCTGTATGAACC -3'

Posted On

2022-05-16