Mutagenetix > Incidental Mutation

Incidental Mutation 'R5227:Crebrf'

402706

Institutional Source

Beutler Lab

Gene Symbol

Crebrf

Ensembl Gene

ENSMUSG00000048249

Gene Name

CREB3 regulatory factor

Synonyms

A930001N09Rik

MMRRC Submission

042800-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R5227 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26934624-26995609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26978739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 476 (Y476N)

Ref Sequence

ENSEMBL: ENSMUSP00000059102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062519] [ENSMUST00000142539] [ENSMUST00000151681]

AlphaFold

Q8CDG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000062519
AA Change: Y476N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059102
Gene: ENSMUSG00000048249
AA Change: Y476N

Domain	Start	End	E-Value	Type
low complexity region	317	330	N/A	INTRINSIC
low complexity region	356	407	N/A	INTRINSIC
Blast:BRLZ	520	584	3e-35	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132972

Predicted Effect

probably damaging
Transcript: ENSMUST00000142539
AA Change: Y468N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114274
Gene: ENSMUSG00000048249
AA Change: Y468N

Domain	Start	End	E-Value	Type
low complexity region	309	322	N/A	INTRINSIC
low complexity region	348	399	N/A	INTRINSIC
Blast:BRLZ	512	576	3e-35	BLAST
low complexity region	617	630	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151681
AA Change: Y56N

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119186
Gene: ENSMUSG00000048249
AA Change: Y56N

Domain	Start	End	E-Value	Type
Blast:BRLZ	100	137	2e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176845

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.2%
20x: 97.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired social recognition, increased vertical and horizontal activity, abnormal maternal nurturing, decreased prolactin and corticosterone serum levels, and abnormal mammary gland growth during lactation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 84,999,249 (GRCm39)	L115P	probably damaging	Het
Adgrb3	A	C	1: 25,133,033 (GRCm39)	M481R	possibly damaging	Het
Adgrd1	C	A	5: 129,199,647 (GRCm39)	N161K	probably benign	Het
Alx4	T	A	2: 93,507,725 (GRCm39)	V340D	probably damaging	Het
Arid1a	A	G	4: 133,407,716 (GRCm39)	S2264P	unknown	Het
Azi2	A	T	9: 117,876,526 (GRCm39)	H14L	probably damaging	Het
Camsap2	A	G	1: 136,202,629 (GRCm39)		probably benign	Het
Ccpg1	T	A	9: 72,919,354 (GRCm39)	L323*	probably null	Het
Cpsf1	A	T	15: 76,483,148 (GRCm39)	I943N	probably damaging	Het
Defb10	T	A	8: 22,351,894 (GRCm39)	Y46*	probably null	Het
Dock3	A	G	9: 106,863,269 (GRCm39)	L703P	probably damaging	Het
Ebf2	A	T	14: 67,484,518 (GRCm39)	I181F	probably damaging	Het
Eif3e	T	A	15: 43,114,917 (GRCm39)	M420L	probably benign	Het
Emilin3	T	A	2: 160,751,185 (GRCm39)	Q188L	probably damaging	Het
Fbxl4	C	T	4: 22,376,840 (GRCm39)	T92M	probably damaging	Het
Fer1l6	C	T	15: 58,453,752 (GRCm39)	Q687*	probably null	Het
Fkrp	T	C	7: 16,544,635 (GRCm39)	E409G	possibly damaging	Het
Fzd9	T	C	5: 135,278,460 (GRCm39)	D475G	probably benign	Het
Gabbr1	C	T	17: 37,380,958 (GRCm39)	T767I	possibly damaging	Het
Gdf2	G	A	14: 33,663,451 (GRCm39)		probably null	Het
Gpatch1	T	C	7: 35,008,776 (GRCm39)	N82D	probably benign	Het
Heg1	T	A	16: 33,583,961 (GRCm39)	L1256Q	probably damaging	Het
Ireb2	T	A	9: 54,803,885 (GRCm39)		probably null	Het
Kansl1	T	G	11: 104,247,640 (GRCm39)	H570P	probably benign	Het
Kcna10	T	G	3: 107,101,744 (GRCm39)	M125R	probably damaging	Het
Lrp1b	T	G	2: 40,741,805 (GRCm39)	I3041L	possibly damaging	Het
Mbtd1	T	C	11: 93,815,474 (GRCm39)	F354S	possibly damaging	Het
Mideas	A	T	12: 84,199,661 (GRCm39)	F1020I	probably benign	Het
Mov10	T	C	3: 104,709,894 (GRCm39)	T331A	probably benign	Het
Ms4a8a	A	T	19: 11,045,780 (GRCm39)	S243T	probably damaging	Het
Ndufa11	T	C	17: 57,024,867 (GRCm39)	S10P	probably benign	Het
Olfml3	A	G	3: 103,643,737 (GRCm39)	Y215H	possibly damaging	Het
Or2t45	T	A	11: 58,669,705 (GRCm39)	F251I	possibly damaging	Het
Or56b2j	A	G	7: 104,353,529 (GRCm39)	I252V	possibly damaging	Het
Pclo	T	C	5: 14,763,574 (GRCm39)	S4016P	probably benign	Het
Pcyox1	G	C	6: 86,368,726 (GRCm39)	A264G	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Pnisr	A	G	4: 21,874,587 (GRCm39)		probably benign	Het
Prc1	T	C	7: 79,962,927 (GRCm39)	S574P	probably damaging	Het
Ranbp3l	T	A	15: 9,037,186 (GRCm39)	V16D	probably damaging	Het
Rfx1	T	C	8: 84,800,687 (GRCm39)	V96A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfmbt1	T	C	14: 30,537,211 (GRCm39)		probably null	Het
Siglecf	T	C	7: 43,001,364 (GRCm39)	Y111H	probably damaging	Het
Snx14	G	A	9: 88,280,347 (GRCm39)	T536I	possibly damaging	Het
Spindoc	A	G	19: 7,351,512 (GRCm39)	V204A	probably benign	Het
Sptbn5	A	G	2: 119,915,812 (GRCm39)		probably benign	Het
Swt1	G	A	1: 151,278,727 (GRCm39)	Q227*	probably null	Het
Tg	A	G	15: 66,631,416 (GRCm39)	I562V	possibly damaging	Het
Trip11	T	A	12: 101,851,179 (GRCm39)	I677F	probably damaging	Het
Vmn1r49	G	A	6: 90,049,753 (GRCm39)	T83I	probably benign	Het
Vmn1r90	T	C	7: 14,295,601 (GRCm39)	K166E	possibly damaging	Het
Vmn2r124	T	C	17: 18,269,819 (GRCm39)	I25T	possibly damaging	Het
Vps13d	A	T	4: 144,907,777 (GRCm39)		probably null	Het
Zfp106	T	C	2: 120,354,449 (GRCm39)	I170V	probably benign	Het

Other mutations in Crebrf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Crebrf	APN	17	26,962,067 (GRCm39)	missense	probably damaging	1.00
IGL03106:Crebrf	APN	17	26,990,293 (GRCm39)	missense	probably damaging	1.00
R0046:Crebrf	UTSW	17	26,982,308 (GRCm39)	missense	probably damaging	1.00
R0046:Crebrf	UTSW	17	26,982,308 (GRCm39)	missense	probably damaging	1.00
R0254:Crebrf	UTSW	17	26,958,568 (GRCm39)	missense	probably benign	0.01
R0448:Crebrf	UTSW	17	26,962,076 (GRCm39)	missense	probably benign	0.42
R1268:Crebrf	UTSW	17	26,958,570 (GRCm39)	frame shift	probably null
R1857:Crebrf	UTSW	17	26,961,937 (GRCm39)	missense	probably benign	0.00
R1858:Crebrf	UTSW	17	26,961,937 (GRCm39)	missense	probably benign	0.00
R1937:Crebrf	UTSW	17	26,961,442 (GRCm39)	missense	probably damaging	1.00
R2005:Crebrf	UTSW	17	26,961,857 (GRCm39)	missense	possibly damaging	0.53
R2006:Crebrf	UTSW	17	26,961,857 (GRCm39)	missense	possibly damaging	0.53
R2031:Crebrf	UTSW	17	26,961,895 (GRCm39)	missense	probably damaging	0.97
R2323:Crebrf	UTSW	17	26,982,581 (GRCm39)	unclassified	probably benign
R2352:Crebrf	UTSW	17	26,961,320 (GRCm39)	missense	probably damaging	1.00
R4510:Crebrf	UTSW	17	26,961,938 (GRCm39)	missense	probably benign
R4511:Crebrf	UTSW	17	26,961,938 (GRCm39)	missense	probably benign
R4585:Crebrf	UTSW	17	26,981,229 (GRCm39)	missense	probably damaging	1.00
R4642:Crebrf	UTSW	17	26,962,035 (GRCm39)	missense	probably benign	0.23
R4896:Crebrf	UTSW	17	26,961,394 (GRCm39)	missense	possibly damaging	0.75
R5377:Crebrf	UTSW	17	26,978,839 (GRCm39)	missense	probably damaging	0.99
R5443:Crebrf	UTSW	17	26,961,328 (GRCm39)	missense	probably damaging	1.00
R5540:Crebrf	UTSW	17	26,961,071 (GRCm39)	missense	possibly damaging	0.90
R6017:Crebrf	UTSW	17	26,976,823 (GRCm39)	missense	probably benign	0.04
R6132:Crebrf	UTSW	17	26,982,377 (GRCm39)	missense	probably benign	0.03
R7464:Crebrf	UTSW	17	26,982,461 (GRCm39)	missense	unknown
R7956:Crebrf	UTSW	17	26,961,631 (GRCm39)	missense	probably benign	0.21
R8378:Crebrf	UTSW	17	26,981,263 (GRCm39)	missense	probably damaging	1.00
R8784:Crebrf	UTSW	17	26,961,520 (GRCm39)	missense	probably benign	0.14
R8916:Crebrf	UTSW	17	26,958,583 (GRCm39)	missense	probably damaging	0.99
R9355:Crebrf	UTSW	17	26,962,094 (GRCm39)	missense	probably damaging	0.99
R9687:Crebrf	UTSW	17	26,982,601 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAGAGAGGAAGCTCATCC -3'
(R):5'- CTTACCTCCTAGAGACTATTCACATGG -3'

Sequencing Primer
(F):5'- GGAAGCTCATCCTTCTAAGTTAGGAC -3'
(R):5'- GGGTGAGCATCATTAGAAATTTACC -3'

Posted On

2016-07-22