Mutagenetix > Incidental Mutation

Incidental Mutation 'R8309:Efhb'

641300

Institutional Source

Beutler Lab

Gene Symbol

Efhb

Ensembl Gene

ENSMUSG00000023931

Gene Name

EF hand domain family, member B

Synonyms

4921525D22Rik

MMRRC Submission

067794-MU

Accession Numbers

Essential gene?

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

Stock #

R8309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53705917-53770349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53756563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 363 (T363A)

Ref Sequence

ENSEMBL: ENSMUSP00000024725 (fasta)

Gene Model

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

AlphaFold

Q8CDU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024725
AA Change: T363A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024725
Gene: ENSMUSG00000023931
AA Change: T363A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	A	2: 35,279,599 (GRCm39)	Y34F	possibly damaging	Het
Abcb6	A	T	1: 75,149,588 (GRCm39)	S664T	probably benign	Het
Abcc4	C	T	14: 118,853,804 (GRCm39)	V443M	probably damaging	Het
Abhd2	G	A	7: 78,998,095 (GRCm39)	G209D	probably damaging	Het
Acte1	A	G	7: 143,437,680 (GRCm39)	N126S	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Apbb2	T	A	5: 66,520,179 (GRCm39)	M449L	probably benign	Het
Ccdc81	T	A	7: 89,526,786 (GRCm39)		probably null	Het
Cd209b	A	T	8: 3,976,559 (GRCm39)	C42*	probably null	Het
Cdhr18	G	A	14: 13,814,954 (GRCm38)	Q860*	probably null	Het
Clec18a	A	T	8: 111,808,689 (GRCm39)	M11K	probably benign	Het
Clock	A	T	5: 76,402,269 (GRCm39)	S130R	probably benign	Het
Col12a1	G	A	9: 79,512,465 (GRCm39)	A2910V	possibly damaging	Het
Col6a4	C	T	9: 105,952,414 (GRCm39)	A495T	probably benign	Het
Cyp4f37	A	T	17: 32,853,952 (GRCm39)	N467I	probably damaging	Het
Ddo	G	A	10: 40,513,375 (GRCm39)	V106M	possibly damaging	Het
Dennd5a	A	G	7: 109,500,332 (GRCm39)	L931P	probably damaging	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Dnah7b	T	C	1: 46,179,032 (GRCm39)	S902P	probably damaging	Het
Dnal4	T	G	15: 79,646,711 (GRCm39)	I57L	probably benign	Het
Dst	T	A	1: 34,156,592 (GRCm39)	I174N	probably damaging	Het
Dync2i1	T	C	12: 116,219,705 (GRCm39)	E79G	probably damaging	Het
Dync2i2	A	G	2: 29,922,201 (GRCm39)	L420P	probably damaging	Het
Eeig2	G	A	3: 108,934,658 (GRCm39)		probably benign	Het
Ehbp1l1	A	G	19: 5,767,103 (GRCm39)	F1245S	probably damaging	Het
Eif4g1	A	G	16: 20,507,578 (GRCm39)	D1453G	probably benign	Het
Fbp1	T	C	13: 63,016,831 (GRCm39)	I224V	probably benign	Het
Gm10782	T	G	13: 56,510,948 (GRCm39)	F79V	noncoding transcript	Het
Gpaa1	C	G	15: 76,216,160 (GRCm39)	R47G	possibly damaging	Het
Hs2st1	G	A	3: 144,143,365 (GRCm39)	S226L	possibly damaging	Het
Hydin	A	G	8: 111,334,534 (GRCm39)	Y4992C	probably benign	Het
Ikbke	A	T	1: 131,191,065 (GRCm39)	C549*	probably null	Het
Insrr	G	A	3: 87,717,749 (GRCm39)	G817S	probably benign	Het
Itgb5	G	A	16: 33,685,923 (GRCm39)	V88I	probably benign	Het
Krt78	A	G	15: 101,854,922 (GRCm39)	V963A	probably benign	Het
Lars1	T	C	18: 42,376,093 (GRCm39)	Y239C	possibly damaging	Het
Map2k5	A	G	9: 63,246,361 (GRCm39)		probably null	Het
Mfn2	A	T	4: 147,974,693 (GRCm39)	W118R	probably benign	Het
Mga	T	A	2: 119,791,411 (GRCm39)	I2550N	probably damaging	Het
Mgam	A	G	6: 40,722,111 (GRCm39)	I401V	possibly damaging	Het
Mrps18c	A	G	5: 100,952,264 (GRCm39)	Y141C	probably damaging	Het
Myo1e	A	T	9: 70,254,045 (GRCm39)	I565L	possibly damaging	Het
Nfatc4	G	A	14: 56,063,848 (GRCm39)	E112K	probably damaging	Het
Nubp1	A	G	16: 10,239,486 (GRCm39)	M255V	probably benign	Het
Or13n4	A	C	7: 106,423,620 (GRCm39)	S38A	probably benign	Het
Or52a33	A	G	7: 103,288,658 (GRCm39)	S230P	probably damaging	Het
Or8g33	C	T	9: 39,337,966 (GRCm39)	V134I	probably benign	Het
Pask	A	T	1: 93,240,573 (GRCm39)	C1264*	probably null	Het
Pcgf2	T	C	11: 97,582,569 (GRCm39)	T173A	probably benign	Het
Plcg1	T	C	2: 160,595,853 (GRCm39)	I574T	probably benign	Het
Plin4	T	C	17: 56,411,437 (GRCm39)	T865A	probably damaging	Het
Pnpt1	T	C	11: 29,103,277 (GRCm39)	V514A	probably benign	Het
Ppp1r3a	T	A	6: 14,719,700 (GRCm39)	I405F	probably benign	Het
Qpctl	A	G	7: 18,882,398 (GRCm39)	V86A	probably benign	Het
Rab3gap1	G	T	1: 127,837,655 (GRCm39)	W239L	possibly damaging	Het
Ralgapa2	T	A	2: 146,246,786 (GRCm39)	T939S	possibly damaging	Het
Rapgef2	G	T	3: 78,990,509 (GRCm39)	T923N	possibly damaging	Het
Rit2	T	A	18: 31,286,898 (GRCm39)	I96F	probably damaging	Het
Rnase13	A	T	14: 52,159,893 (GRCm39)	I82N	probably damaging	Het
Rp1	C	A	1: 4,417,312 (GRCm39)	V1267L	probably benign	Het
Serpinb9b	G	A	13: 33,223,554 (GRCm39)	E249K	probably damaging	Het
Serpinb9c	G	T	13: 33,334,094 (GRCm39)	T344K	possibly damaging	Het
Serpinh1	T	C	7: 98,998,151 (GRCm39)	I160V	possibly damaging	Het
Sipa1	A	G	19: 5,704,964 (GRCm39)	S544P	probably damaging	Het
Slc17a5	A	T	9: 78,478,311 (GRCm39)	Y231*	probably null	Het
Srcap	T	C	7: 127,148,529 (GRCm39)	V1959A	probably damaging	Het
Srrm4	G	A	5: 116,729,626 (GRCm39)		probably benign	Het
Stat1	T	C	1: 52,190,404 (GRCm39)	I553T	possibly damaging	Het
Stpg1	A	G	4: 135,256,903 (GRCm39)	I231M	probably benign	Het
Szt2	G	GC	4: 118,232,679 (GRCm39)		probably null	Het
Trpv3	C	T	11: 73,170,747 (GRCm39)	T209M	probably damaging	Het
Tsc22d2	G	T	3: 58,324,544 (GRCm39)	G479C	unknown	Het
Ttc3	A	G	16: 94,267,838 (GRCm39)	H1950R	probably damaging	Het
Tusc3	A	G	8: 39,617,882 (GRCm39)	*348W	probably null	Het
Utp4	A	T	8: 107,642,853 (GRCm39)	T504S	probably benign	Het
Vmn1r15	A	G	6: 57,235,635 (GRCm39)	M168V	probably benign	Het
Wdsub1	C	T	2: 59,704,578 (GRCm39)		probably benign	Het
Xrcc5	T	A	1: 72,358,286 (GRCm39)	M207K	possibly damaging	Het
Zc3h7a	A	T	16: 10,964,417 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zfp558	A	C	9: 18,368,213 (GRCm39)	S192A	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp964	A	G	8: 70,115,924 (GRCm39)	T175A	possibly damaging	Het
Zfp988	A	G	4: 147,416,765 (GRCm39)	R400G	probably damaging	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
R5375:Efhb	UTSW	17	53,708,654 (GRCm39)	missense	possibly damaging	0.93
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
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'- ATAAGACGTATTTCCCACCTCC -3'
(R):5'- AGTTTCATGCCTGCCTGGAG -3'

Sequencing Primer
(F):5'- GACGTATTTCCCACCTCCTCCTG -3'
(R):5'- GGATACAGTCCTAGCTGAAAGTTCTG -3'

Posted On

2020-07-28