Mutagenetix > Incidental Mutation

Incidental Mutation 'R5375:Efhb'

429045

Institutional Source

Beutler Lab

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

MMRRC Submission

042951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5375 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53708654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 672 (N672I)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024725]

AlphaFold

Q8CDU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024725
AA Change: N672I

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: N672I

Domain	Start	End	E-Value	Type
low complexity region	565	574	N/A	INTRINSIC
EFh	585	613	2.14e-1	SMART
EFh	621	649	1.98e0	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	T	A	12: 4,260,870 (GRCm39)	N995K	probably damaging	Het
Aldh4a1	T	C	4: 139,361,233 (GRCm39)	M60T	probably benign	Het
Alpk2	A	T	18: 65,505,809 (GRCm39)	H70Q	probably damaging	Het
Babam2	T	A	5: 31,859,207 (GRCm39)	I5N	possibly damaging	Het
Blm	T	C	7: 80,162,977 (GRCm39)	T125A	probably benign	Het
Bloc1s1	T	C	10: 128,759,826 (GRCm39)		probably benign	Het
Calcr	G	T	6: 3,714,651 (GRCm39)	Q160K	probably benign	Het
Ccdc43	C	T	11: 102,581,058 (GRCm39)	A131T	probably damaging	Het
Cdh15	A	T	8: 123,591,839 (GRCm39)	N575Y	probably damaging	Het
Chd8	T	C	14: 52,441,611 (GRCm39)	D827G	probably damaging	Het
Col3a1	A	G	1: 45,387,059 (GRCm39)		probably null	Het
Creb5	A	T	6: 53,658,002 (GRCm39)	M255L	possibly damaging	Het
Cst8	A	G	2: 148,646,503 (GRCm39)	I78V	probably benign	Het
Cyld	A	G	8: 89,459,664 (GRCm39)	E440G	possibly damaging	Het
Cyp2b9	A	C	7: 25,887,167 (GRCm39)	D192A	probably damaging	Het
Dclre1b	C	T	3: 103,711,290 (GRCm39)	R207H	probably damaging	Het
Dnah6	A	T	6: 73,100,838 (GRCm39)	F1936L	probably damaging	Het
Dpp9	A	C	17: 56,496,424 (GRCm39)	Y761*	probably null	Het
Drc1	A	T	5: 30,513,745 (GRCm39)	M434L	probably benign	Het
Dtx3l	A	T	16: 35,753,397 (GRCm39)	I403N	probably damaging	Het
Ecpas	T	A	4: 58,809,401 (GRCm39)	K1658*	probably null	Het
Efcab9	A	G	11: 32,477,484 (GRCm39)	Y13H	probably damaging	Het
Eif5b	T	C	1: 38,084,835 (GRCm39)	V894A	possibly damaging	Het
Elovl3	T	C	19: 46,123,135 (GRCm39)	F237S	probably benign	Het
Emc1	T	A	4: 139,093,802 (GRCm39)	D637E	probably damaging	Het
Erbb2	C	A	11: 98,324,238 (GRCm39)	P742Q	probably damaging	Het
Fam234b	C	A	6: 135,210,355 (GRCm39)	L584M	probably damaging	Het
Fancd2	A	T	6: 113,545,673 (GRCm39)	D14V	possibly damaging	Het
Fat2	T	C	11: 55,153,646 (GRCm39)	H3522R	probably benign	Het
Fgfr2	T	C	7: 129,842,945 (GRCm39)	N147D	possibly damaging	Het
Gm26657	A	G	4: 56,741,180 (GRCm39)		probably benign	Het
Hcrtr1	C	T	4: 130,029,518 (GRCm39)	V188M	probably benign	Het
Herc1	T	C	9: 66,375,169 (GRCm39)	V3331A	probably damaging	Het
Hmcn2	T	C	2: 31,320,453 (GRCm39)	V3978A	possibly damaging	Het
Invs	G	A	4: 48,385,262 (GRCm39)	R202K	probably benign	Het
Lgr5	C	T	10: 115,314,469 (GRCm39)	S156N	probably benign	Het
Mras	T	G	9: 99,276,669 (GRCm39)	D67A	probably damaging	Het
Mrpl39	A	G	16: 84,520,790 (GRCm39)	L283P	probably damaging	Het
Ncoa6	A	T	2: 155,275,915 (GRCm39)	I110N	probably benign	Het
Neb	T	C	2: 52,102,596 (GRCm39)	D544G	possibly damaging	Het
Nlrc3	A	G	16: 3,782,617 (GRCm39)	I264T	possibly damaging	Het
Or10a2	T	A	7: 106,673,080 (GRCm39)	M15K	probably benign	Het
Or1j13	A	G	2: 36,369,309 (GRCm39)	Y278H	probably damaging	Het
Or5k16	T	C	16: 58,736,248 (GRCm39)	Y252C	possibly damaging	Het
Or7g18	A	G	9: 18,787,442 (GRCm39)	K273R	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf11d	T	C	14: 59,590,120 (GRCm39)	D234G	probably null	Het
Polq	A	T	16: 36,903,146 (GRCm39)	D1980V	probably damaging	Het
Rasa1	A	T	13: 85,437,022 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec23a	A	G	12: 59,053,791 (GRCm39)	V69A	probably benign	Het
Sipa1	A	G	19: 5,709,640 (GRCm39)	I260T	probably damaging	Het
Smarcc1	T	A	9: 110,020,017 (GRCm39)	L628H	probably damaging	Het
Snx31	A	G	15: 36,525,730 (GRCm39)	V323A	probably damaging	Het
Sun2	A	G	15: 79,611,723 (GRCm39)	S565P	probably damaging	Het
Tmem74	C	T	15: 43,730,564 (GRCm39)	D160N	possibly damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Trp53inp1	A	G	4: 11,165,305 (GRCm39)	T110A	probably benign	Het
Ttll9	G	T	2: 152,826,144 (GRCm39)	C118F	probably benign	Het
Vps4b	A	G	1: 106,719,422 (GRCm39)	L42P	probably benign	Het
Xirp2	A	T	2: 67,342,250 (GRCm39)	N1497I	probably damaging	Het
Xpo4	A	G	14: 57,875,764 (GRCm39)	V123A	probably damaging	Het
Zfhx4	A	T	3: 5,477,485 (GRCm39)	T3367S	probably damaging	Het
Zfp236	T	C	18: 82,615,813 (GRCm39)	E1782G	possibly damaging	Het
Zfp35	T	A	18: 24,135,973 (GRCm39)	C106S	possibly damaging	Het
Zfpm1	A	G	8: 123,062,812 (GRCm39)	T624A	probably benign	Het
Zmiz2	C	T	11: 6,347,519 (GRCm39)	Q276*	probably null	Het

Other mutations in Efhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Efhb	APN	17	53,769,481 (GRCm39)	missense	probably damaging	1.00
IGL00990:Efhb	APN	17	53,769,649 (GRCm39)	missense	possibly damaging	0.86
IGL02041:Efhb	APN	17	53,733,287 (GRCm39)	missense	probably damaging	1.00
IGL02247:Efhb	APN	17	53,708,652 (GRCm39)	missense	probably benign	0.00
IGL02637:Efhb	APN	17	53,756,580 (GRCm39)	missense	probably benign	0.26
IGL02704:Efhb	APN	17	53,733,297 (GRCm39)	missense	probably damaging	1.00
IGL03083:Efhb	APN	17	53,706,087 (GRCm39)	missense	probably damaging	1.00
IGL03090:Efhb	APN	17	53,769,958 (GRCm39)	missense	probably benign	0.01
IGL03221:Efhb	APN	17	53,706,014 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Efhb	UTSW	17	53,752,803 (GRCm39)	missense	probably damaging	1.00
R0632:Efhb	UTSW	17	53,720,487 (GRCm39)	splice site	probably benign
R1234:Efhb	UTSW	17	53,758,615 (GRCm39)	nonsense	probably null
R1466:Efhb	UTSW	17	53,744,206 (GRCm39)	missense	probably damaging	0.99
R1466:Efhb	UTSW	17	53,744,206 (GRCm39)	missense	probably damaging	0.99
R1471:Efhb	UTSW	17	53,706,140 (GRCm39)	missense	possibly damaging	0.46
R1624:Efhb	UTSW	17	53,733,306 (GRCm39)	missense	probably damaging	1.00
R2019:Efhb	UTSW	17	53,708,505 (GRCm39)	missense	probably damaging	1.00
R2085:Efhb	UTSW	17	53,733,937 (GRCm39)	critical splice donor site	probably null
R2226:Efhb	UTSW	17	53,769,457 (GRCm39)	critical splice donor site	probably null
R2415:Efhb	UTSW	17	53,770,124 (GRCm39)	missense	probably benign	0.01
R3848:Efhb	UTSW	17	53,734,024 (GRCm39)	splice site	probably benign
R3858:Efhb	UTSW	17	53,769,808 (GRCm39)	missense	possibly damaging	0.61
R4581:Efhb	UTSW	17	53,733,303 (GRCm39)	missense	probably damaging	1.00
R4712:Efhb	UTSW	17	53,758,697 (GRCm39)	missense	probably damaging	1.00
R4731:Efhb	UTSW	17	53,733,272 (GRCm39)	missense	probably damaging	1.00
R4732:Efhb	UTSW	17	53,733,272 (GRCm39)	missense	probably damaging	1.00
R4733:Efhb	UTSW	17	53,733,272 (GRCm39)	missense	probably damaging	1.00
R5886:Efhb	UTSW	17	53,758,582 (GRCm39)	missense	probably benign	0.42
R6054:Efhb	UTSW	17	53,706,027 (GRCm39)	missense	possibly damaging	0.90
R6195:Efhb	UTSW	17	53,769,580 (GRCm39)	missense	possibly damaging	0.62
R6233:Efhb	UTSW	17	53,769,580 (GRCm39)	missense	possibly damaging	0.62
R6450:Efhb	UTSW	17	53,759,632 (GRCm39)	missense	possibly damaging	0.77
R6550:Efhb	UTSW	17	53,728,968 (GRCm39)	missense	probably benign	0.06
R6701:Efhb	UTSW	17	53,706,091 (GRCm39)	missense	probably benign	0.41
R6967:Efhb	UTSW	17	53,770,196 (GRCm39)	missense	probably benign	0.03
R7157:Efhb	UTSW	17	53,707,928 (GRCm39)	missense	probably damaging	1.00
R7441:Efhb	UTSW	17	53,708,549 (GRCm39)	missense	possibly damaging	0.78
R7694:Efhb	UTSW	17	53,707,836 (GRCm39)	missense	probably damaging	0.99
R8044:Efhb	UTSW	17	53,706,143 (GRCm39)	missense	probably benign	0.41
R8176:Efhb	UTSW	17	53,707,874 (GRCm39)	missense	probably damaging	1.00
R8309:Efhb	UTSW	17	53,756,563 (GRCm39)	missense	probably damaging	0.99
R8311:Efhb	UTSW	17	53,720,489 (GRCm39)	critical splice donor site	probably null
R8821:Efhb	UTSW	17	53,707,772 (GRCm39)	critical splice donor site	probably benign
R8882:Efhb	UTSW	17	53,769,712 (GRCm39)	missense	probably damaging	1.00
R9146:Efhb	UTSW	17	53,769,644 (GRCm39)	missense	probably benign	0.00
R9211:Efhb	UTSW	17	53,756,507 (GRCm39)	missense	probably damaging	0.96
R9760:Efhb	UTSW	17	53,770,298 (GRCm39)	missense	probably damaging	0.96
RF003:Efhb	UTSW	17	53,707,919 (GRCm39)	missense	probably damaging	1.00
RF012:Efhb	UTSW	17	53,720,545 (GRCm39)	missense	probably damaging	0.97
Z1177:Efhb	UTSW	17	53,744,211 (GRCm39)	missense	probably benign	0.26
Z1177:Efhb	UTSW	17	53,744,154 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGCGTTGATCTCAGAAGACG -3'
(R):5'- GTGAGTGCTCATTTCCACCG -3'

Sequencing Primer
(F):5'- CGTTGATCTCAGAAGACGTTGTC -3'
(R):5'- AACATGTCATGGCGTGCATG -3'

Posted On

2016-09-06