Mutagenetix > Incidental Mutation

Incidental Mutation 'R8923:Efcab12'

679393

Institutional Source

Beutler Lab

Gene Symbol

Efcab12

Ensembl Gene

ENSMUSG00000030321

Gene Name

EF-hand calcium binding domain 12

Synonyms

BC060267

MMRRC Submission

068768-MU

Accession Numbers

Essential gene?

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

Stock #

R8923 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115787695-115815177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 115787982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 660 (T660S)

Ref Sequence

ENSEMBL: ENSMUSP00000138850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032468] [ENSMUST00000081840] [ENSMUST00000124531] [ENSMUST00000184428] [ENSMUST00000203816]

AlphaFold

V9GXH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032468
AA Change: T660S

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138850
Gene: ENSMUSG00000030321
AA Change: T660S

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: ENSMUST00000081840

SMART Domains

Protein: ENSMUSP00000080523
Gene: ENSMUSG00000057841

Domain	Start	End	E-Value	Type
Ribosomal_L32e	17	124	1.79e-82	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124531

SMART Domains

Protein: ENSMUSP00000139385
Gene: ENSMUSG00000030321

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184428
AA Change: T660S

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139144
Gene: ENSMUSG00000030321
AA Change: T660S

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: ENSMUST00000203816

SMART Domains

Protein: ENSMUSP00000145350
Gene: ENSMUSG00000057841

Domain	Start	End	E-Value	Type
Ribosomal_L32e	17	124	1.79e-82	SMART

Meta Mutation Damage Score

0.0788

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	G	7: 144,204,288 (GRCm39)	Y308H	possibly damaging	Het
Ano6	T	C	15: 95,811,428 (GRCm39)	I176T	probably damaging	Het
Ap3b2	T	C	7: 81,126,931 (GRCm39)	E273G	probably benign	Het
Arid1a	A	G	4: 133,412,304 (GRCm39)	I1245T	unknown	Het
Ash1l	T	C	3: 88,892,974 (GRCm39)	S1618P	possibly damaging	Het
Atp5f1e	G	T	2: 174,304,309 (GRCm39)	S49*	probably null	Het
Bsdc1	C	T	4: 129,355,405 (GRCm39)		probably benign	Het
Ccni	T	C	5: 93,335,943 (GRCm39)	H152R	probably damaging	Het
Cdk5	A	G	5: 24,625,284 (GRCm39)	V208A	possibly damaging	Het
Cmtm5	G	A	14: 55,176,345 (GRCm39)	D137N	probably damaging	Het
Cyp3a41b	A	G	5: 145,521,448 (GRCm39)	M1T	probably null	Het
Cyp3a44	A	T	5: 145,736,171 (GRCm39)	V93E	probably damaging	Het
Dhrs2	A	T	14: 55,478,309 (GRCm39)	I241F	probably benign	Het
Dip2c	A	G	13: 9,673,901 (GRCm39)	T1114A	probably damaging	Het
Dsel	T	C	1: 111,788,284 (GRCm39)	I750M	possibly damaging	Het
Dync2h1	T	C	9: 7,168,515 (GRCm39)	K398E	probably benign	Het
Ep400	A	G	5: 110,831,864 (GRCm39)	L2126P	unknown	Het
Ercc1	T	A	7: 19,081,062 (GRCm39)		probably benign	Het
Flnc	G	T	6: 29,452,236 (GRCm39)	D1687Y	probably damaging	Het
Frrs1	A	T	3: 116,696,070 (GRCm39)	I530F	possibly damaging	Het
Gp5	G	T	16: 30,128,222 (GRCm39)	L151I	probably damaging	Het
H2-Q5	A	G	17: 35,613,982 (GRCm39)	D177G		Het
Itgal	A	T	7: 126,895,533 (GRCm39)		probably benign	Het
Klhl33	A	T	14: 51,129,882 (GRCm39)	C277*	probably null	Het
Lefty1	T	A	1: 180,765,318 (GRCm39)	C295*	probably null	Het
Lmo7	A	T	14: 102,137,679 (GRCm39)	T794S	probably benign	Het
Mss51	A	G	14: 20,537,177 (GRCm39)	M97T	possibly damaging	Het
Mtmr11	C	T	3: 96,072,188 (GRCm39)	P262S	probably damaging	Het
Muc15	A	T	2: 110,562,212 (GRCm39)	N216I	probably damaging	Het
Muc16	A	T	9: 18,549,972 (GRCm39)	D5440E	probably benign	Het
Myt1l	A	G	12: 29,960,800 (GRCm39)	K1038E	unknown	Het
Naa15	G	A	3: 51,367,443 (GRCm39)	V539M	probably damaging	Het
Or10al2	A	T	17: 37,983,702 (GRCm39)	I263F	probably benign	Het
Or1e26	T	C	11: 73,480,076 (GRCm39)	I163V	probably benign	Het
Or5ac20	G	C	16: 59,104,399 (GRCm39)	L154V	probably benign	Het
Parpbp	C	T	10: 87,947,474 (GRCm39)	V387I	probably benign	Het
Pbxip1	T	C	3: 89,352,921 (GRCm39)	I189T	possibly damaging	Het
Prkci	T	A	3: 31,095,250 (GRCm39)	Y111*	probably null	Het
Prkd2	C	G	7: 16,599,682 (GRCm39)	T715R	probably damaging	Het
Rab40c	A	C	17: 26,102,664 (GRCm39)	S262A	probably benign	Het
Rad51d	A	G	11: 82,773,798 (GRCm39)	L164P	probably damaging	Het
Rgs22	T	A	15: 36,093,106 (GRCm39)	K513I	probably damaging	Het
Rubcn	G	T	16: 32,646,049 (GRCm39)	T828K	probably damaging	Het
Sdha	G	A	13: 74,487,179 (GRCm39)	T203M	probably damaging	Het
Sesn3	T	C	9: 14,217,562 (GRCm39)		probably null	Het
Spag8	T	A	4: 43,651,471 (GRCm39)	T468S	probably damaging	Het
Spdl1	T	C	11: 34,704,478 (GRCm39)	K452E	possibly damaging	Het
Stat5a	T	C	11: 100,771,308 (GRCm39)	F597S		Het
Sult1b1	A	C	5: 87,662,893 (GRCm39)	F269C	probably damaging	Het
Ubap1	A	G	4: 41,379,170 (GRCm39)	N128S	probably benign	Het
Utp20	G	A	10: 88,627,604 (GRCm39)	Q954*	probably null	Het
Vmn1r173	T	A	7: 23,401,768 (GRCm39)	M1K	probably null	Het
Wdfy1	A	G	1: 79,684,017 (GRCm39)	S373P	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
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
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'- TTCAAAACGGCAGAGGTCATG -3'
(R):5'- AGGTTAAGCCCCTCAGACAC -3'

Sequencing Primer
(F):5'- TGTGGCATCAGGGGACACATC -3'
(R):5'- ACCCATCCCAATCACTTCTGG -3'

Posted On

2021-08-02