Mutagenetix > Incidental Mutation

Incidental Mutation 'R5137:Ebf1'

396225

Institutional Source

Beutler Lab

Gene Symbol

Ebf1

Ensembl Gene

ENSMUSG00000057098

Gene Name

early B cell factor 1

Synonyms

Olf1, O/E-1, Olf-1

MMRRC Submission

042723-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R5137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44508144-44898918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44882295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 409 (R409Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081265] [ENSMUST00000101326] [ENSMUST00000109268]

AlphaFold

Q07802

Predicted Effect

probably damaging
Transcript: ENSMUST00000081265
AA Change: R416Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: R416Q

Domain	Start	End	E-Value	Type
IPT	261	345	7.38e-8	SMART
HLH	346	395	5.4e-2	SMART
low complexity region	526	544	N/A	INTRINSIC
low complexity region	564	575	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101326
AA Change: R417Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: R417Q

Domain	Start	End	E-Value	Type
Pfam:COE1_DBD	17	247	8e-150	PFAM
IPT	262	346	7.38e-8	SMART
HLH	347	396	5.4e-2	SMART
low complexity region	527	545	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109268
AA Change: R409Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: R409Q

Domain	Start	End	E-Value	Type
IPT	254	338	7.38e-8	SMART
HLH	339	388	5.4e-2	SMART
low complexity region	519	537	N/A	INTRINSIC
low complexity region	557	568	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,123,920 (GRCm39)	V75A	probably benign	Het
Ace	G	C	11: 105,865,652 (GRCm39)	W628C	probably damaging	Het
Adh4	T	C	3: 138,127,996 (GRCm39)	S141P	probably benign	Het
Apob	T	C	12: 8,061,384 (GRCm39)	Y3256H	possibly damaging	Het
B3galnt1	G	T	3: 69,482,282 (GRCm39)	N326K	probably benign	Het
Bltp3a	T	G	17: 28,095,964 (GRCm39)		probably null	Het
Catsperb	T	C	12: 101,516,070 (GRCm39)	F569L	probably damaging	Het
Cecr2	A	G	6: 120,732,478 (GRCm39)	I225V	probably benign	Het
Cox5b	A	G	1: 36,731,510 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,834,332 (GRCm39)	D1953G	probably damaging	Het
Dnaaf5	C	T	5: 139,167,215 (GRCm39)	T707M	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eef2k	G	A	7: 120,484,645 (GRCm39)	A256T	probably damaging	Het
Eef2k	C	A	7: 120,484,646 (GRCm39)	A256D	probably damaging	Het
Evl	C	G	12: 108,647,781 (GRCm39)	T294S	probably benign	Het
Eya2	T	C	2: 165,573,548 (GRCm39)	Y288H	probably damaging	Het
Ezh2	A	T	6: 47,509,014 (GRCm39)		probably null	Het
Fam171a1	T	C	2: 3,226,426 (GRCm39)	Y395H	probably benign	Het
Gas2l3	C	A	10: 89,249,837 (GRCm39)	R427L	probably damaging	Het
Gli2	T	A	1: 118,783,233 (GRCm39)	I91F	probably damaging	Het
Gm4884	T	C	7: 40,692,318 (GRCm39)	S96P	probably damaging	Het
Gprc5d	T	A	6: 135,093,031 (GRCm39)	D292V	probably benign	Het
Herc1	A	G	9: 66,355,505 (GRCm39)	K2252R	probably benign	Het
Il1rl1	A	T	1: 40,489,285 (GRCm39)	M346L	probably benign	Het
Kcna5	A	T	6: 126,510,946 (GRCm39)	V394D	probably damaging	Het
Kcng4	A	T	8: 120,352,617 (GRCm39)	M431K	possibly damaging	Het
Kifbp	A	T	10: 62,414,020 (GRCm39)	V46E	probably damaging	Het
Large1	A	G	8: 73,774,937 (GRCm39)	F258L	possibly damaging	Het
Mapkbp1	T	A	2: 119,852,662 (GRCm39)	C1001S	probably damaging	Het
Micu1	A	G	10: 59,663,054 (GRCm39)	Q328R	probably benign	Het
Mmp11	G	A	10: 75,761,290 (GRCm39)	P437S	probably damaging	Het
Msh6	T	A	17: 88,287,716 (GRCm39)	F119I	possibly damaging	Het
Myo6	A	G	9: 80,149,531 (GRCm39)	E159G	probably damaging	Het
Negr1	T	A	3: 156,721,833 (GRCm39)	Y136N	probably damaging	Het
Nol9	T	A	4: 152,130,428 (GRCm39)	C321S	probably damaging	Het
Nos1	T	C	5: 118,043,378 (GRCm39)	F551S	probably benign	Het
Nup153	C	A	13: 46,837,629 (GRCm39)	G1198C	probably damaging	Het
Omd	T	C	13: 49,743,552 (GRCm39)	S201P	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or4c120	C	A	2: 89,000,744 (GRCm39)	V271F	probably benign	Het
Or51l14	A	G	7: 103,100,919 (GRCm39)	Y125C	probably damaging	Het
Or51l14	C	A	7: 103,100,920 (GRCm39)	Y125*	probably null	Het
Oxct1	G	T	15: 4,064,832 (GRCm39)	A57S	probably benign	Het
Pcdhga7	T	G	18: 37,850,433 (GRCm39)	S813R	probably damaging	Het
Pcmtd2	A	T	2: 181,496,787 (GRCm39)	I255F	possibly damaging	Het
Pdk1	T	G	2: 71,713,913 (GRCm39)	M186R	possibly damaging	Het
Pelp1	T	C	11: 70,285,925 (GRCm39)	T648A	probably damaging	Het
Phldb2	A	T	16: 45,628,621 (GRCm39)	S570R	possibly damaging	Het
Pramel16	T	A	4: 143,675,690 (GRCm39)	T379S	probably benign	Het
Ptprj	T	C	2: 90,299,992 (GRCm39)	T270A	possibly damaging	Het
Reln	C	T	5: 22,160,179 (GRCm39)	G2130D	probably damaging	Het
Rims1	A	T	1: 22,358,844 (GRCm39)	Y663*	probably null	Het
Rit2	T	C	18: 31,286,817 (GRCm39)	T123A	probably benign	Het
Rmdn2	A	T	17: 79,975,418 (GRCm39)	E302D	probably benign	Het
Ryr1	T	C	7: 28,801,283 (GRCm39)	E827G	possibly damaging	Het
Siglec1	C	T	2: 130,923,264 (GRCm39)	G494R	probably damaging	Het
Slc16a14	T	A	1: 84,890,318 (GRCm39)	Y329F	probably damaging	Het
Slc35d1	A	T	4: 103,071,978 (GRCm39)	L8Q	possibly damaging	Het
Smpdl3a	C	T	10: 57,677,163 (GRCm39)	S57L	possibly damaging	Het
Snx9	T	C	17: 5,978,528 (GRCm39)	V566A	probably damaging	Het
Spaca1	A	T	4: 34,029,095 (GRCm39)	I126N	probably damaging	Het
Spred1	T	G	2: 116,994,052 (GRCm39)	I94S	probably damaging	Het
Tardbp	T	C	4: 148,706,494 (GRCm39)	D105G	possibly damaging	Het
Tet2	T	C	3: 133,182,326 (GRCm39)	S1213G	probably benign	Het
Trak1	A	T	9: 121,196,121 (GRCm39)		probably benign	Het
Trem3	G	A	17: 48,556,756 (GRCm39)	V76M	possibly damaging	Het
Ttc13	G	T	8: 125,421,674 (GRCm39)	Y250*	probably null	Het
Ttll5	T	G	12: 85,969,819 (GRCm39)	S714R	possibly damaging	Het
Ube2l6	T	G	2: 84,633,220 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,803,679 (GRCm39)	S1090P	probably damaging	Het
Vezt	T	C	10: 93,806,372 (GRCm39)	T680A	probably benign	Het
Virma	A	G	4: 11,546,297 (GRCm39)	K1762E	probably damaging	Het
Vps53	A	G	11: 76,057,074 (GRCm39)	S57P	probably damaging	Het
Vwa7	G	T	17: 35,236,822 (GRCm39)	D130Y	probably damaging	Het
Vwa8	T	G	14: 79,302,342 (GRCm39)	F1004V	probably damaging	Het
Zfp35	A	T	18: 24,137,194 (GRCm39)	K513*	probably null	Het
Zfp384	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	6: 125,013,472 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,978,505 (GRCm39)	C636F	probably damaging	Het

Other mutations in Ebf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Ebf1	APN	11	44,759,927 (GRCm39)	missense	probably damaging	1.00
IGL02228:Ebf1	APN	11	44,863,739 (GRCm39)	missense	probably damaging	1.00
IGL02430:Ebf1	APN	11	44,815,403 (GRCm39)	critical splice donor site	probably null
Befuddled	UTSW	11	44,523,602 (GRCm39)	missense	probably damaging	0.98
Catastrophic	UTSW	11	44,774,712 (GRCm39)	missense	probably damaging	1.00
Crabapple	UTSW	11	44,774,666 (GRCm39)	missense	probably damaging	1.00
Crater_lake	UTSW	11	44,863,735 (GRCm39)	nonsense	probably null
ebby	UTSW	11	44,774,641 (GRCm39)	missense	probably damaging	1.00
Oregano	UTSW	11	44,759,996 (GRCm39)	missense	probably damaging	1.00
Oregano2	UTSW	11	44,881,331 (GRCm39)	splice site	probably null
Realtor	UTSW	11	44,511,374 (GRCm39)	missense	probably benign	0.05
Vie	UTSW	11	44,863,742 (GRCm39)	missense	probably damaging	1.00
R0102:Ebf1	UTSW	11	44,882,282 (GRCm39)	missense	probably benign	0.02
R0102:Ebf1	UTSW	11	44,882,282 (GRCm39)	missense	probably benign	0.02
R0141:Ebf1	UTSW	11	44,798,827 (GRCm39)	missense	probably damaging	1.00
R0230:Ebf1	UTSW	11	44,886,949 (GRCm39)	missense	probably damaging	1.00
R0243:Ebf1	UTSW	11	44,759,915 (GRCm39)	splice site	probably benign
R0268:Ebf1	UTSW	11	44,534,240 (GRCm39)	missense	probably damaging	0.96
R0414:Ebf1	UTSW	11	44,815,297 (GRCm39)	nonsense	probably null
R0648:Ebf1	UTSW	11	44,882,337 (GRCm39)	missense	probably damaging	0.99
R0765:Ebf1	UTSW	11	44,759,987 (GRCm39)	missense	probably damaging	0.97
R1055:Ebf1	UTSW	11	44,523,602 (GRCm39)	missense	probably damaging	0.98
R1432:Ebf1	UTSW	11	44,895,533 (GRCm39)	splice site	probably benign
R1713:Ebf1	UTSW	11	44,815,393 (GRCm39)	missense	probably damaging	1.00
R1749:Ebf1	UTSW	11	44,798,835 (GRCm39)	missense	possibly damaging	0.68
R1989:Ebf1	UTSW	11	44,512,793 (GRCm39)	missense	probably damaging	0.97
R2405:Ebf1	UTSW	11	44,882,349 (GRCm39)	missense	probably damaging	0.98
R3110:Ebf1	UTSW	11	44,534,225 (GRCm39)	splice site	probably benign
R4538:Ebf1	UTSW	11	44,798,822 (GRCm39)	missense	probably benign	0.07
R4666:Ebf1	UTSW	11	44,882,384 (GRCm39)	missense	probably damaging	0.99
R4855:Ebf1	UTSW	11	44,863,735 (GRCm39)	nonsense	probably null
R4904:Ebf1	UTSW	11	44,759,996 (GRCm39)	missense	probably damaging	1.00
R5569:Ebf1	UTSW	11	44,883,228 (GRCm39)	missense	possibly damaging	0.82
R5849:Ebf1	UTSW	11	44,881,331 (GRCm39)	splice site	probably null
R5940:Ebf1	UTSW	11	44,512,048 (GRCm39)	missense	probably damaging	1.00
R5989:Ebf1	UTSW	11	44,886,998 (GRCm39)	missense	probably damaging	1.00
R6170:Ebf1	UTSW	11	44,774,712 (GRCm39)	missense	probably damaging	1.00
R6512:Ebf1	UTSW	11	44,883,168 (GRCm39)	missense	probably damaging	1.00
R6747:Ebf1	UTSW	11	44,774,641 (GRCm39)	missense	probably damaging	1.00
R7031:Ebf1	UTSW	11	44,512,795 (GRCm39)	missense	possibly damaging	0.95
R7042:Ebf1	UTSW	11	44,882,338 (GRCm39)	missense	probably damaging	0.99
R8065:Ebf1	UTSW	11	44,511,374 (GRCm39)	missense	probably benign	0.05
R8067:Ebf1	UTSW	11	44,511,374 (GRCm39)	missense	probably benign	0.05
R8125:Ebf1	UTSW	11	44,863,742 (GRCm39)	missense	probably damaging	1.00
R8413:Ebf1	UTSW	11	44,534,274 (GRCm39)	missense	possibly damaging	0.92
R8863:Ebf1	UTSW	11	44,774,666 (GRCm39)	missense	probably damaging	1.00
R9178:Ebf1	UTSW	11	44,895,548 (GRCm39)	missense	probably benign	0.20
R9178:Ebf1	UTSW	11	44,883,276 (GRCm39)	missense	probably benign	0.04
R9511:Ebf1	UTSW	11	44,815,393 (GRCm39)	missense	probably benign	0.03
R9603:Ebf1	UTSW	11	44,509,006 (GRCm39)	start codon destroyed	probably null	0.07

Predicted Primers

PCR Primer
(F):5'- CCCCAACTAAGATGTGGTCAGG -3'
(R):5'- GTGAGCTTGCCTTTGTCAAG -3'

Sequencing Primer
(F):5'- GAAGCTTGACTTATAGATGTGTCAGC -3'
(R):5'- CCTTTGTCAAGGGGCAGAG -3'

Posted On

2016-06-21