Mutagenetix > Incidental Mutation

Incidental Mutation 'R9100:Efcab15'

691640

Institutional Source

Beutler Lab

Gene Symbol

Efcab15

Ensembl Gene

ENSMUSG00000020940

Gene Name

EF-hand calcium binding domain 15

Synonyms

1700023F06Rik

MMRRC Submission

068914-MU

Accession Numbers

Essential gene?

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

Stock #

R9100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103089769-103099374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103090893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 151 (T151A)

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: T220A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940
AA Change: T220A

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: T151A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940
AA Change: T151A

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

SMART Domains

Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

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

SMART Domains

Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,853,800 (GRCm39)	V444A	possibly damaging	Het
Add1	T	A	5: 34,770,622 (GRCm39)		probably benign	Het
Adgrg3	A	G	8: 95,762,891 (GRCm39)		probably benign	Het
Adgrl3	A	C	5: 81,842,299 (GRCm39)	Q809P	possibly damaging	Het
Ankmy2	T	C	12: 36,236,806 (GRCm39)	C205R	probably damaging	Het
Atp6v1b2	A	G	8: 69,541,476 (GRCm39)	N11S		Het
B3gnt6	T	A	7: 97,843,958 (GRCm39)	M1L	not run	Het
Bltp1	A	G	3: 37,098,907 (GRCm39)	K1256R		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdca8	T	C	4: 124,830,238 (GRCm39)	T45A	probably benign	Het
Ces2b	C	A	8: 105,558,221 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cnot3	A	G	7: 3,661,192 (GRCm39)	D567G	probably benign	Het
Cnot6l	T	C	5: 96,230,875 (GRCm39)	D364G	probably damaging	Het
Cpped1	A	G	16: 11,646,419 (GRCm39)	V111A		Het
Cstdc4	T	A	16: 36,008,285 (GRCm39)	M57K	possibly damaging	Het
Cyp11b2	T	C	15: 74,722,995 (GRCm39)	K468E	probably damaging	Het
Dpp4	T	G	2: 62,204,733 (GRCm39)	T245P	possibly damaging	Het
Fat2	A	G	11: 55,153,347 (GRCm39)	W3622R	probably damaging	Het
Fat4	A	C	3: 39,064,803 (GRCm39)	K4920Q		Het
Frmpd2	A	G	14: 33,252,407 (GRCm39)	I656M	probably benign	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gde1	C	T	7: 118,294,305 (GRCm39)	R166H	probably benign	Het
Gdf7	A	T	12: 8,348,652 (GRCm39)	F215Y	unknown	Het
Gdpgp1	A	G	7: 79,888,282 (GRCm39)	I104M	probably benign	Het
Gldc	A	G	19: 30,077,314 (GRCm39)	S953P	possibly damaging	Het
Golga3	C	T	5: 110,337,544 (GRCm39)	H411Y	probably benign	Het
Gpn1	G	T	5: 31,655,740 (GRCm39)	R101I	probably damaging	Het
Itgb5	T	A	16: 33,740,551 (GRCm39)	S554T	possibly damaging	Het
Klhl1	G	A	14: 96,584,364 (GRCm39)	L289F	probably damaging	Het
Klhl13	C	T	X: 23,113,733 (GRCm39)	R95Q	probably benign	Het
Kmt2d	G	C	15: 98,747,832 (GRCm39)	T3164R	unknown	Het
Knl1	T	C	2: 118,899,469 (GRCm39)	V390A	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	GCCACAGCCCCCACAGGAACTACA	7: 141,728,836 (GRCm39)		probably benign	Het
Lamtor4	G	A	5: 138,254,595 (GRCm39)		probably benign	Het
Lonrf1	AGGCGGCGGCGGCGG	AGGCGGCGGCGG	8: 36,715,919 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,622,102 (GRCm39)	L829F	probably benign	Het
Ltbp1	T	A	17: 75,622,103 (GRCm39)	L829H	probably damaging	Het
Mrgpra1	C	T	7: 46,984,732 (GRCm39)	E316K	probably damaging	Het
Muc16	T	A	9: 18,556,966 (GRCm39)	H3109L	unknown	Het
Nck1	T	C	9: 100,377,561 (GRCm39)	E368G	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nus1	A	T	10: 52,305,287 (GRCm39)		probably null	Het
Nxph2	T	C	2: 23,289,780 (GRCm39)	V44A	probably benign	Het
Or1e30	A	G	11: 73,678,687 (GRCm39)	K308E	probably benign	Het
Or4f56	A	G	2: 111,703,606 (GRCm39)	M198T	possibly damaging	Het
Or4k35	A	G	2: 111,100,094 (GRCm39)	L206P	probably benign	Het
Or4z4	G	T	19: 12,076,254 (GRCm39)	H250N	probably benign	Het
Or5d35	T	C	2: 87,855,330 (GRCm39)	I88T	probably benign	Het
Or5m11b	A	G	2: 85,806,096 (GRCm39)	K170E	probably benign	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Otof	T	C	5: 30,539,696 (GRCm39)	D1039G	possibly damaging	Het
Parpbp	T	A	10: 87,968,969 (GRCm39)	Q159L	possibly damaging	Het
Per2	A	T	1: 91,351,464 (GRCm39)	L1014Q	possibly damaging	Het
Pik3ap1	C	G	19: 41,312,924 (GRCm39)		silent	Het
Pik3ca	A	G	3: 32,514,168 (GRCm39)	N885D	probably damaging	Het
Pip5k1c	T	C	10: 81,145,056 (GRCm39)	V299A	probably benign	Het
Polr3h	A	T	15: 81,806,717 (GRCm39)		probably benign	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel23	T	G	4: 143,425,727 (GRCm39)	N72T	probably benign	Het
Pus3	C	A	9: 35,476,946 (GRCm39)	Q248K	probably benign	Het
Sectm1a	T	A	11: 120,960,569 (GRCm39)	Q82L	possibly damaging	Het
Sema3e	A	G	5: 14,282,208 (GRCm39)	Y448C	probably damaging	Het
Slc12a4	A	T	8: 106,675,774 (GRCm39)	S584T	probably benign	Het
Slc25a40	T	C	5: 8,499,613 (GRCm39)	F249L	probably benign	Het
St3gal6	T	A	16: 58,306,793 (GRCm39)	N79I		Het
Stxbp4	A	T	11: 90,426,320 (GRCm39)	I496K	possibly damaging	Het
Sulf1	A	G	1: 12,878,118 (GRCm39)	Y202C	probably damaging	Het
Swt1	A	G	1: 151,299,256 (GRCm39)		probably null	Het
Tdrd6	T	C	17: 43,936,305 (GRCm39)	Y1581C	possibly damaging	Het
Tenm4	G	C	7: 96,495,061 (GRCm39)	G1163A	probably damaging	Het
Tlr4	A	G	4: 66,758,518 (GRCm39)	E437G	probably benign	Het
Txnrd2	A	T	16: 18,256,315 (GRCm39)	H101L	probably damaging	Het
Uba3	A	T	6: 97,163,671 (GRCm39)	V306E	probably damaging	Het
Unc5b	T	C	10: 60,604,152 (GRCm39)	Q814R	probably damaging	Het
Vamp5	T	G	6: 72,347,304 (GRCm39)	E5A	possibly damaging	Het
Vmn1r69	T	A	7: 10,314,064 (GRCm39)	R222S	probably damaging	Het
Zfp507	G	A	7: 35,494,446 (GRCm39)	T199I	probably benign	Het
Zfyve19	T	G	2: 119,041,718 (GRCm39)	L95R	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
PIT4514001:Efcab15	UTSW	11	103,091,960 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TTACAGGTGGGGAGATCCAAAC -3'
(R):5'- GTCCTTACTGACAACCACCG -3'

Sequencing Primer
(F):5'- TCCAAACAGGACCGAAGGC -3'
(R):5'- TTACTGACAACCACCGTCTGGC -3'

Posted On

2021-12-30