Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:Efcab12'

594845

Institutional Source

Beutler Lab

Gene Symbol

Efcab12

Ensembl Gene

ENSMUSG00000030321

Gene Name

EF-hand calcium binding domain 12

Synonyms

BC060267

MMRRC Submission

045773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115787695-115815177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115800504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 173 (K173R)

Ref Sequence

ENSEMBL: ENSMUSP00000138850 (fasta)

Gene Model

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

AlphaFold

V9GXH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032468
AA Change: K173R

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321
AA Change: K173R

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

possibly damaging
Transcript: ENSMUST00000124531
AA Change: K173R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321
AA Change: K173R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184428
AA Change: K173R

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321
AA Change: K173R

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,659 (GRCm39)	F57L	probably benign	Het
Agl	C	T	3: 116,551,905 (GRCm39)	R563Q		Het
Ahctf1	A	G	1: 179,598,413 (GRCm39)	M919T	probably benign	Het
Ano4	A	T	10: 88,831,173 (GRCm39)	N483K	probably damaging	Het
Armt1	A	G	10: 4,400,751 (GRCm39)	K166R	probably benign	Het
Asgr2	T	C	11: 69,987,721 (GRCm39)	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,791,262 (GRCm39)	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,530,622 (GRCm39)	T150A	possibly damaging	Het
Bach1	A	G	16: 87,516,859 (GRCm39)	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,414,471 (GRCm39)	K395E	probably benign	Het
Cadps	G	A	14: 12,457,762 (GRCm38)	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Canx	A	G	11: 50,201,631 (GRCm39)	S80P	probably benign	Het
Ccdc149	T	A	5: 52,561,533 (GRCm39)		probably null	Het
Cd34	A	T	1: 194,631,624 (GRCm39)	N87Y	probably damaging	Het
Cdh11	T	A	8: 103,391,346 (GRCm39)	I297F	possibly damaging	Het
Cfap251	A	G	5: 123,400,197 (GRCm39)	N439D	probably damaging	Het
Cip2a	A	T	16: 48,834,347 (GRCm39)	Q643L	probably damaging	Het
Col14a1	A	G	15: 55,351,379 (GRCm39)	I1569V	unknown	Het
Cxcr4	C	T	1: 128,517,479 (GRCm39)	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,411,764 (GRCm39)	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,381,120 (GRCm39)	Y79C	probably benign	Het
Daam1	A	G	12: 72,035,675 (GRCm39)	K957E	probably benign	Het
Dip2c	A	G	13: 9,664,427 (GRCm39)	K947E	probably damaging	Het
Emc1	C	T	4: 139,098,934 (GRCm39)	R806C	probably damaging	Het
Epg5	G	A	18: 78,011,801 (GRCm39)	R816Q	probably damaging	Het
Faf1	G	T	4: 109,568,011 (GRCm39)	D24Y	probably damaging	Het
Fchsd1	A	T	18: 38,099,695 (GRCm39)		probably null	Het
Foxp1	T	C	6: 98,922,621 (GRCm39)	T404A	unknown	Het
Fra10ac1	T	C	19: 38,178,286 (GRCm39)	E299G	probably damaging	Het
Gon4l	A	G	3: 88,815,313 (GRCm39)	T1959A	probably benign	Het
Gpam	A	C	19: 55,077,353 (GRCm39)	V146G	probably benign	Het
Hephl1	T	A	9: 14,972,081 (GRCm39)	D953V	probably benign	Het
Kcnc2	G	T	10: 112,107,845 (GRCm39)	E79*	probably null	Het
Kcnj12	T	A	11: 60,957,778 (GRCm39)		probably null	Het
Llgl2	A	T	11: 115,740,554 (GRCm39)	T417S	probably benign	Het
Lrrc17	A	T	5: 21,766,078 (GRCm39)	N187Y	probably damaging	Het
Macc1	C	T	12: 119,409,991 (GRCm39)	A253V	possibly damaging	Het
Mark1	A	G	1: 184,639,431 (GRCm39)	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,448,376 (GRCm39)	L409P	probably damaging	Het
Nek1	A	G	8: 61,459,794 (GRCm39)	E34G	probably damaging	Het
Nlrp3	T	A	11: 59,433,829 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,478,680 (GRCm39)	V686D	probably damaging	Het
Or2l5	C	T	16: 19,333,480 (GRCm39)	R302K	probably benign	Het
Or55b10	T	A	7: 102,143,668 (GRCm39)	M105L	possibly damaging	Het
Or7h8	G	A	9: 20,123,731 (GRCm39)	G29R	probably damaging	Het
Or7h8	G	A	9: 20,123,732 (GRCm39)	G29E	probably benign	Het
Or8c15	T	A	9: 38,120,775 (GRCm39)	M140K	probably benign	Het
Or8g18	A	T	9: 39,149,174 (GRCm39)	L182H	probably damaging	Het
Ostm1	G	A	10: 42,559,183 (GRCm39)	G148R	probably benign	Het
Oxsr1	A	G	9: 119,071,822 (GRCm39)	S470P	probably damaging	Het
Pacs1	C	T	19: 5,191,709 (GRCm39)	M709I	probably benign	Het
Pan2	A	G	10: 128,153,592 (GRCm39)	M963V	probably benign	Het
Pds5a	A	G	5: 65,795,904 (GRCm39)	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sh2b2	T	C	5: 136,247,889 (GRCm39)	N554S	probably benign	Het
Sh3gl2	T	A	4: 85,317,077 (GRCm39)		probably null	Het
Slc24a4	A	G	12: 102,185,219 (GRCm39)	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,734,640 (GRCm39)	S218P	possibly damaging	Het
Spast	T	A	17: 74,675,921 (GRCm39)	N321K	probably benign	Het
Srcap	T	G	7: 127,148,460 (GRCm39)	I1936S	probably damaging	Het
Themis	G	A	10: 28,739,305 (GRCm39)	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,338,377 (GRCm39)	T296I	possibly damaging	Het
Ttk	A	G	9: 83,747,206 (GRCm39)	T682A	probably benign	Het
Virma	C	T	4: 11,549,682 (GRCm39)	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016 (GRCm39)		probably null	Het
Vmn2r101	T	A	17: 19,832,177 (GRCm39)	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,195,307 (GRCm39)	V673A	probably damaging	Het
Wbp4	C	T	14: 79,703,734 (GRCm39)	S271N	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
R5185:Efcab12	UTSW	6	115,800,451 (GRCm39)	missense	probably benign	0.00
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
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'- GCGAATCATGGACAGAACCCTG -3'
(R):5'- AAGGGTCCCACCACTCTTTC -3'

Sequencing Primer
(F):5'- CAGAACCCTGAACTCTGATGATGTG -3'
(R):5'- TTTCACCTCCATAGAAGATGACCTCG -3'

Posted On

2019-11-12