Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4514001:Efcab15'

556280

Institutional Source

Beutler Lab

Gene Symbol

Efcab15

Ensembl Gene

ENSMUSG00000020940

Gene Name

EF-hand calcium binding domain 15

Synonyms

1700023F06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

PIT4514001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103089769-103099374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103091960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 27 (D27G)

Ref Sequence

ENSEMBL: ENSMUSP00000102641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [ENSMUST00000174567] [ENSMUST00000218163]

AlphaFold

A2AB62

Predicted Effect

probably benign
Transcript: ENSMUST00000021323
AA Change: D96G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940
AA Change: D96G

Domain	Start	End	E-Value	Type
EFh	109	137	7.23e1	SMART
EFh	145	173	6.68e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042286

SMART Domains

Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805

Domain	Start	End	E-Value	Type
Drf_GBD	27	280	1.04e-87	SMART
Drf_FH3	283	632	2.29e-75	SMART
FH2	627	1057	4.35e-142	SMART
low complexity region	1074	1087	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107026
AA Change: D27G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940
AA Change: D27G

Domain	Start	End	E-Value	Type
EFh	40	68	7.23e1	SMART
EFh	76	104	6.68e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107027

SMART Domains

Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805

Domain	Start	End	E-Value	Type
Drf_GBD	27	280	1.04e-87	SMART
Drf_FH3	283	632	2.29e-75	SMART
FH2	627	1057	4.35e-142	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129726

SMART Domains

Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805

Domain	Start	End	E-Value	Type
Pfam:FH2	1	50	8.2e-10	PFAM
low complexity region	124	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172850
AA Change: D96G

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

SMART Domains

Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940
AA Change: D96G

Domain	Start	End	E-Value	Type
EFh	109	137	3.5e-1	SMART
EFh	145	173	3.2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174567
AA Change: D131G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940
AA Change: D131G

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	153	209	5e-8	SMART
Blast:EFh	159	187	4e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000218163

Coding Region Coverage

1x: 93.1%
3x: 90.6%
10x: 84.2%
20x: 70.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 61,001,328 (GRCm39)		probably null	Het
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Abcc10	T	A	17: 46,616,574 (GRCm39)	I1247F	probably benign	Het
Acap3	G	A	4: 155,987,835 (GRCm39)	A524T	probably benign	Het
Adcy10	T	A	1: 165,384,360 (GRCm39)	N1040K	probably benign	Het
Adrb2	T	C	18: 62,312,798 (GRCm39)	D9G	probably benign	Het
Aldh1a7	T	C	19: 20,679,604 (GRCm39)	T391A	probably benign	Het
Bcam	A	G	7: 19,497,991 (GRCm39)	V344A	probably benign	Het
Birc7	T	A	2: 180,573,099 (GRCm39)	I172N	possibly damaging	Het
Cfap126	G	A	1: 170,952,881 (GRCm39)	D45N	probably damaging	Het
Cfap299	T	A	5: 98,949,730 (GRCm39)	H221Q	probably benign	Het
Cit	G	A	5: 116,135,913 (GRCm39)		probably null	Het
Col26a1	A	G	5: 136,780,579 (GRCm39)	V295A	probably benign	Het
Epha7	C	T	4: 28,961,355 (GRCm39)	Q867*	probably null	Het
Fn1	A	G	1: 71,667,615 (GRCm39)	S793P	probably benign	Het
Foxb1	T	A	9: 69,667,503 (GRCm39)	Y9F	probably damaging	Het
Gpc1	T	A	1: 92,785,279 (GRCm39)	M406K	probably benign	Het
Gsg1	T	C	6: 135,214,574 (GRCm39)	T312A	probably benign	Het
Hmcn1	T	A	1: 150,545,238 (GRCm39)	I2790F	possibly damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Lmntd1	AGACTGTAAGTTTCTCAAATGTGTACCTGGA	AGA	6: 145,372,979 (GRCm39)		probably null	Het
Mcph1	A	G	8: 18,681,906 (GRCm39)	K348E	probably damaging	Het
Or10al6	T	A	17: 38,082,758 (GRCm39)	N71K	probably damaging	Het
Or8d4	T	C	9: 40,038,595 (GRCm39)	I221V	probably damaging	Het
Pik3cg	T	A	12: 32,254,902 (GRCm39)	R362W	probably damaging	Het
Pkp3	T	C	7: 140,669,623 (GRCm39)	L765P	probably damaging	Het
Plxna2	A	T	1: 194,477,245 (GRCm39)	I1252F	probably benign	Het
Prpf8	T	C	11: 75,387,181 (GRCm39)	F1154S	possibly damaging	Het
Scn7a	A	G	2: 66,514,523 (GRCm39)	F1084L	probably damaging	Het
Shmt1	G	A	11: 60,695,173 (GRCm39)	S47L	probably damaging	Het
Snap91	T	C	9: 86,761,486 (GRCm39)	K40R	possibly damaging	Het
Spag17	A	T	3: 99,920,527 (GRCm39)	T421S	possibly damaging	Het
Speer4f1	T	A	5: 17,683,754 (GRCm39)	N139K	possibly damaging	Het
Syne2	T	G	12: 76,151,789 (GRCm39)	N1883K	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Tmem39b	A	C	4: 129,578,290 (GRCm39)	N310K	possibly damaging	Het
Trim3	T	C	7: 105,267,417 (GRCm39)	T321A	probably benign	Het
Vmn2r124	T	C	17: 18,293,974 (GRCm39)	I687T	probably benign	Het
Zbtb8a	T	C	4: 129,251,523 (GRCm39)	D316G	probably benign	Het
Zfp639	A	G	3: 32,574,409 (GRCm39)	I345V	possibly damaging	Het
Zfp764	T	C	7: 127,003,913 (GRCm39)	H406R	probably benign	Het

Other mutations in Efcab15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Efcab15	APN	11	103,091,754 (GRCm39)	missense	probably damaging	1.00
IGL01797:Efcab15	APN	11	103,089,794 (GRCm39)	missense	probably damaging	1.00
IGL02507:Efcab15	APN	11	103,090,275 (GRCm39)	missense	probably damaging	0.99
catapult	UTSW	11	103,098,947 (GRCm39)	splice site	probably null
trebuchet	UTSW	11	103,098,944 (GRCm39)	splice site	probably null
R1715:Efcab15	UTSW	11	103,090,650 (GRCm39)	critical splice acceptor site	probably null
R4197:Efcab15	UTSW	11	103,091,966 (GRCm39)	missense	probably benign	0.00
R5195:Efcab15	UTSW	11	103,089,794 (GRCm39)	missense	probably damaging	1.00
R5886:Efcab15	UTSW	11	103,098,947 (GRCm39)	splice site	probably null
R7366:Efcab15	UTSW	11	103,098,944 (GRCm39)	splice site	probably null
R7602:Efcab15	UTSW	11	103,091,004 (GRCm39)	missense	probably benign
R9100:Efcab15	UTSW	11	103,090,893 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGCAAGGTGAACACTGTGTG -3'
(R):5'- CACTAAAGAGGAGGCCTTACTG -3'

Sequencing Primer
(F):5'- CTGTGTGTTTAAAGACTTAGACTGGC -3'
(R):5'- GAGATCTCAAGAATCCTTCTGAAGC -3'

Posted On

2019-06-07