Mutagenetix > Incidental Mutation

Incidental Mutation 'R5185:Efcab12'

397811

Institutional Source

Beutler Lab

Gene Symbol

Efcab12

Ensembl Gene

ENSMUSG00000030321

Gene Name

EF-hand calcium binding domain 12

Synonyms

BC060267

MMRRC Submission

042764-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115787695-115815177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115800451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 191 (M191L)

Ref Sequence

ENSEMBL: ENSMUSP00000139144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032468] [ENSMUST00000124531] [ENSMUST00000184428]

AlphaFold

V9GXH0

Predicted Effect

probably benign
Transcript: ENSMUST00000032468
AA Change: M191L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321
AA Change: M191L

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	302	344	1e-3	SMART
low complexity region	438	445	N/A	INTRINSIC
low complexity region	566	578	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124531
AA Change: M191L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321
AA Change: M191L

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	302	344	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184428
AA Change: M191L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321
AA Change: M191L

Domain	Start	End	E-Value	Type
SCOP:d1mr8a_	302	344	1e-3	SMART
low complexity region	438	445	N/A	INTRINSIC
low complexity region	566	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203044

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

95% (70/74)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,453,737 (GRCm39)	Y408C	probably damaging	Het
Aox4	T	C	1: 58,293,477 (GRCm39)	L943S	probably damaging	Het
Ap1g1	G	A	8: 110,589,958 (GRCm39)		probably benign	Het
Arsb	T	C	13: 93,930,667 (GRCm39)	S212P	probably damaging	Het
Arsi	A	G	18: 61,049,984 (GRCm39)	N289S	probably damaging	Het
Atp6v1h	T	A	1: 5,165,865 (GRCm39)	F72I	probably damaging	Het
Atxn7	T	C	14: 14,090,063 (GRCm38)	I336T	probably benign	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Bcl6	A	T	16: 23,791,697 (GRCm39)	M219K	possibly damaging	Het
Brd3	T	C	2: 27,352,460 (GRCm39)	K157E	probably damaging	Het
Ccdc171	T	G	4: 83,581,892 (GRCm39)	S674A	possibly damaging	Het
Cfap43	A	G	19: 47,768,833 (GRCm39)	I737T	probably benign	Het
Cul9	A	T	17: 46,836,758 (GRCm39)	V1089D	possibly damaging	Het
Dffa	C	A	4: 149,201,887 (GRCm39)	A155E	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Efl1	T	C	7: 82,421,707 (GRCm39)	L1018P	probably damaging	Het
Fcho1	A	G	8: 72,167,600 (GRCm39)		probably benign	Het
Fndc3b	T	A	3: 27,511,219 (GRCm39)	T764S	probably benign	Het
Gm29125	T	C	1: 80,361,948 (GRCm39)		noncoding transcript	Het
Gm5108	A	G	5: 68,101,953 (GRCm39)		probably benign	Het
Gm9949	T	G	18: 62,313,636 (GRCm39)		probably benign	Het
Golgb1	T	C	16: 36,695,503 (GRCm39)		probably benign	Het
Gpd2	T	C	2: 57,230,216 (GRCm39)	Y323H	probably damaging	Het
Grip1	T	G	10: 119,767,164 (GRCm39)	D96E	probably benign	Het
Hmcn1	T	C	1: 150,532,492 (GRCm39)	I3132V	probably benign	Het
Hsd17b1	T	C	11: 100,971,024 (GRCm39)	W327R	possibly damaging	Het
Htra2	G	A	6: 83,031,223 (GRCm39)	P62L	probably benign	Het
Kdr	A	T	5: 76,113,077 (GRCm39)		probably null	Het
Kif14	T	A	1: 136,455,207 (GRCm39)	C1626*	probably null	Het
Kmt2a	A	T	9: 44,731,543 (GRCm39)		probably benign	Het
Krt15	T	C	11: 100,024,259 (GRCm39)	T321A	probably damaging	Het
Lactbl1	A	T	4: 136,358,356 (GRCm39)	H109L	probably benign	Het
Lilra6	T	A	7: 3,917,635 (GRCm39)	H120L	probably benign	Het
Lpcat2	G	A	8: 93,596,365 (GRCm39)	S134N	probably benign	Het
Mpp4	T	C	1: 59,164,742 (GRCm39)	D465G	probably benign	Het
Naip2	A	T	13: 100,325,859 (GRCm39)	D16E	probably damaging	Het
Nek5	C	T	8: 22,573,397 (GRCm39)	A520T	possibly damaging	Het
Nfatc2	A	G	2: 168,412,627 (GRCm39)	F132L	possibly damaging	Het
Nlrp3	C	A	11: 59,455,910 (GRCm39)	T902N	probably benign	Het
Or10d1b	A	T	9: 39,613,172 (GRCm39)	W298R	probably benign	Het
Or4c123	A	T	2: 89,126,731 (GRCm39)	H294Q	probably benign	Het
Or7e165	T	C	9: 19,694,672 (GRCm39)	M81T	probably damaging	Het
Or8h7	T	C	2: 86,720,946 (GRCm39)	D191G	probably benign	Het
Pcdhb16	T	C	18: 37,613,142 (GRCm39)	S701P	possibly damaging	Het
Phf7	A	G	14: 30,969,994 (GRCm39)		probably null	Het
Plpp4	G	A	7: 128,918,028 (GRCm39)	V68M	probably damaging	Het
Pnma2	A	T	14: 67,153,578 (GRCm39)	M1L	possibly damaging	Het
Pnma8b	A	T	7: 16,679,901 (GRCm39)	D295V	probably damaging	Het
Rad21l	T	C	2: 151,499,382 (GRCm39)	D270G	probably benign	Het
Ralgapa2	C	A	2: 146,230,406 (GRCm39)		probably null	Het
Rasal3	A	T	17: 32,615,764 (GRCm39)	L334Q	probably damaging	Het
Rfx4	G	T	10: 84,699,114 (GRCm39)	R240L	probably damaging	Het
Rnf19b	T	A	4: 128,977,713 (GRCm39)	C642*	probably null	Het
Slc28a2	G	A	2: 122,288,675 (GRCm39)	E594K	probably benign	Het
Spata31	G	T	13: 65,065,340 (GRCm39)	W15L	possibly damaging	Het
Spink5	T	C	18: 44,148,711 (GRCm39)	S925P	probably damaging	Het
Svep1	C	T	4: 58,084,534 (GRCm39)	G1865S	probably damaging	Het
Tg	T	C	15: 66,645,323 (GRCm39)	L791P	probably damaging	Het
Thbs4	A	C	13: 92,911,675 (GRCm39)	V247G	probably damaging	Het
Tpcn2	A	T	7: 144,809,191 (GRCm39)	F705Y	probably damaging	Het
Try10	A	T	6: 41,333,483 (GRCm39)	H76L	probably damaging	Het
Ttn	C	T	2: 76,769,565 (GRCm39)	V2695I	probably damaging	Het
Tut1	C	A	19: 8,932,814 (GRCm39)	T49N	probably benign	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Xdh	G	A	17: 74,232,006 (GRCm39)	R235C	probably damaging	Het
Yipf4	A	G	17: 74,799,470 (GRCm39)	D70G	probably null	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het

Other mutations in Efcab12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Efcab12	APN	6	115,800,625 (GRCm39)	missense	probably benign	0.00
IGL02748:Efcab12	APN	6	115,797,063 (GRCm39)	missense	probably damaging	0.97
IGL03148:Efcab12	APN	6	115,787,952 (GRCm39)	missense	probably damaging	1.00
R0218:Efcab12	UTSW	6	115,791,611 (GRCm39)	splice site	probably benign
R0366:Efcab12	UTSW	6	115,800,209 (GRCm39)	splice site	probably benign
R2847:Efcab12	UTSW	6	115,788,072 (GRCm39)	missense	probably damaging	0.97
R4674:Efcab12	UTSW	6	115,800,610 (GRCm39)	missense	probably damaging	0.99
R4707:Efcab12	UTSW	6	115,791,510 (GRCm39)	missense	possibly damaging	0.87
R5145:Efcab12	UTSW	6	115,800,238 (GRCm39)	missense	probably damaging	0.98
R6168:Efcab12	UTSW	6	115,791,577 (GRCm39)	missense	probably damaging	0.97
R6960:Efcab12	UTSW	6	115,815,273 (GRCm39)	unclassified	probably benign
R7187:Efcab12	UTSW	6	115,800,474 (GRCm39)	missense	not run
R7297:Efcab12	UTSW	6	115,787,997 (GRCm39)	missense	possibly damaging	0.85
R7324:Efcab12	UTSW	6	115,800,555 (GRCm39)	missense	probably benign	0.30
R7715:Efcab12	UTSW	6	115,800,504 (GRCm39)	missense	possibly damaging	0.85
R7996:Efcab12	UTSW	6	115,800,378 (GRCm39)	missense	probably benign	0.30
R8418:Efcab12	UTSW	6	115,799,076 (GRCm39)	critical splice donor site	probably null
R8527:Efcab12	UTSW	6	115,791,535 (GRCm39)	missense	probably benign	0.02
R8923:Efcab12	UTSW	6	115,787,982 (GRCm39)	missense	possibly damaging	0.58
R8924:Efcab12	UTSW	6	115,800,664 (GRCm39)	missense	probably benign	0.00
R9364:Efcab12	UTSW	6	115,814,975 (GRCm39)	missense	probably benign	0.00
R9433:Efcab12	UTSW	6	115,792,995 (GRCm39)	missense	probably benign	0.03
R9762:Efcab12	UTSW	6	115,800,331 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TCTGCTCCTGGCGAATCATG -3'
(R):5'- TTTCACCTCCATAGAAGATGACCTC -3'

Sequencing Primer
(F):5'- TGGACAGAACCCTGAACTCTGATG -3'
(R):5'- TAGAAGATGACCTCGATGAAACC -3'

Posted On

2016-07-06