Mutagenetix > Incidental Mutation

Incidental Mutation 'R3940:Calm5'

474751

Institutional Source

Beutler Lab

Gene Symbol

Calm5

Ensembl Gene

ENSMUSG00000099269

Gene Name

calmodulin 5

Synonyms

Scarf2

MMRRC Submission

040922-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R3940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3904173-3904761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3904485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 37 (I37F)

Ref Sequence

ENSEMBL: ENSMUSP00000139172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000183198] [ENSMUST00000184271]

AlphaFold

Q6W3E0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183198
AA Change: I37F

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139172
Gene: ENSMUSG00000099269
AA Change: I37F

Domain	Start	End	E-Value	Type
EFh	12	40	1.9e-7	SMART
EFh	45	73	6.7e-10	SMART
EFh	81	109	1.5e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184271
AA Change: I60F

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139342
Gene: ENSMUSG00000099269
AA Change: I60F

Domain	Start	End	E-Value	Type
EFh	35	63	3.7e-5	SMART
EFh	68	96	1.35e-7	SMART
EFh	104	132	3.12e0	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (35/37)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Acsm3	A	G	7: 119,373,109 (GRCm39)	E204G	probably benign	Het
Acta2	A	T	19: 34,220,880 (GRCm39)	I276N	possibly damaging	Het
Ankrd16	T	C	2: 11,789,192 (GRCm39)	C260R	probably benign	Het
Ankrd42	T	C	7: 92,240,996 (GRCm39)		probably null	Het
Atp13a2	T	C	4: 140,733,733 (GRCm39)	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Casq1	A	G	1: 172,047,103 (GRCm39)	V52A	possibly damaging	Het
Col22a1	A	T	15: 71,853,782 (GRCm39)	L260*	probably null	Het
Cttnbp2	C	A	6: 18,420,974 (GRCm39)	V846L	probably benign	Het
Dnah12	A	G	14: 26,444,754 (GRCm39)	T627A	probably benign	Het
Eogt	T	C	6: 97,090,875 (GRCm39)	I421M	probably damaging	Het
Fam135a	T	A	1: 24,096,556 (GRCm39)	H63L	probably damaging	Het
Fmo3	T	A	1: 162,791,555 (GRCm39)	T241S	probably benign	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gm14393	T	C	2: 174,903,420 (GRCm39)		probably null	Het
Kcna5	C	T	6: 126,510,614 (GRCm39)	V505I	probably damaging	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Or7a41	T	A	10: 78,871,038 (GRCm39)	I136N	probably damaging	Het
Or8k40	T	A	2: 86,584,275 (GRCm39)	D269V	possibly damaging	Het
Pcdhb7	T	C	18: 37,477,021 (GRCm39)	L719P	probably damaging	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Pik3ip1	A	G	11: 3,281,987 (GRCm39)	N48S	probably damaging	Het
Pkn2	G	A	3: 142,499,672 (GRCm39)	S951L	probably damaging	Het
Prrc2a	T	C	17: 35,376,474 (GRCm39)	H772R	possibly damaging	Het
Ric1	T	C	19: 29,548,162 (GRCm39)	Y277H	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf123	A	T	9: 107,941,234 (GRCm39)		probably benign	Het
Robo1	T	C	16: 72,806,631 (GRCm39)	S1166P	probably benign	Het
S100a10	A	G	3: 93,468,383 (GRCm39)	E38G	probably benign	Het
Slc34a1	A	T	13: 55,560,983 (GRCm39)	I483F	probably damaging	Het
Stim1	A	G	7: 102,084,848 (GRCm39)	N600S	probably benign	Het
Ube3c	T	A	5: 29,824,358 (GRCm39)	N517K	probably benign	Het

Other mutations in Calm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3732:Calm5	UTSW	13	3,904,337 (GRCm39)	missense	probably damaging	1.00
R4563:Calm5	UTSW	13	3,904,402 (GRCm39)	nonsense	probably null
R4793:Calm5	UTSW	13	3,904,401 (GRCm39)	missense	probably benign	0.06
R5585:Calm5	UTSW	13	3,904,372 (GRCm39)	missense	possibly damaging	0.71
R5775:Calm5	UTSW	13	3,904,435 (GRCm39)	missense	probably damaging	0.99
R5869:Calm5	UTSW	13	3,904,321 (GRCm39)	splice site	probably benign
R6125:Calm5	UTSW	13	3,904,491 (GRCm39)	nonsense	probably null
R7621:Calm5	UTSW	13	3,904,629 (GRCm39)	missense	possibly damaging	0.75
R8062:Calm5	UTSW	13	3,904,405 (GRCm39)	missense	probably benign	0.01
R8690:Calm5	UTSW	13	3,904,277 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14