Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Crebrf'

18534

Institutional Source

Beutler Lab

Gene Symbol

Crebrf

Ensembl Gene

ENSMUSG00000048249

Gene Name

CREB3 regulatory factor

Synonyms

A930001N09Rik

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R0046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26934624-26995609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26982308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 565 (L565M)

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: L565M

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

SMART Domains

Protein: ENSMUSP00000059102
Gene: ENSMUSG00000048249
AA Change: L565M

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

possibly damaging
Transcript: ENSMUST00000142539
AA Change: L557M

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114274
Gene: ENSMUSG00000048249
AA Change: L557M

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

probably benign
Transcript: ENSMUST00000151681

SMART Domains

Protein: ENSMUSP00000119186
Gene: ENSMUSG00000048249

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176845

Meta Mutation Damage Score

0.1048

Coding Region Coverage

1x: 89.2%
3x: 86.2%
10x: 78.3%
20x: 64.0%

Validation Efficiency

98% (86/88)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Auts2	T	C	5: 131,799,624 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gm19410	A	G	8: 36,269,799 (GRCm39)	E1148G	probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Ly75	A	T	2: 60,169,801 (GRCm39)		probably benign	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Tsbp1	T	C	17: 34,679,095 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	probably damaging	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
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
R5227:Crebrf	UTSW	17	26,978,739 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-03-25