Mutagenetix > Incidental Mutations

Incidental Mutation 'R8417:Preb'

652988

Institutional Source

Beutler Lab

Gene Symbol

Preb

Ensembl Gene

ENSMUSG00000045302

Gene Name

prolactin regulatory element binding

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R8417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30950853-30960361 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 30960117 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074840] [ENSMUST00000202567]

Predicted Effect

probably benign
Transcript: ENSMUST00000074840

SMART Domains

Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302

Domain	Start	End	E-Value	Type
low complexity region	24	41	N/A	INTRINSIC
low complexity region	99	114	N/A	INTRINSIC
WD40	143	182	4.48e-2	SMART
WD40	185	223	4.88e-3	SMART
WD40	289	328	4.42e1	SMART
Blast:WD40	332	382	5e-26	BLAST
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201002

Predicted Effect

probably benign
Transcript: ENSMUST00000201821

Predicted Effect

probably benign
Transcript: ENSMUST00000202567

SMART Domains

Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302

Domain	Start	End	E-Value	Type
low complexity region	24	41	N/A	INTRINSIC
low complexity region	99	114	N/A	INTRINSIC
WD40	143	182	4.48e-2	SMART
WD40	185	223	4.88e-3	SMART
WD40	289	328	4.42e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,529,085		probably null	Het
Adamtsl1	G	A	4: 86,156,689	D98N	possibly damaging	Het
Adgrb3	T	C	1: 25,488,053	T601A	probably benign	Het
Ankrd33	C	A	15: 101,119,449	Q248K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Casp12	G	T	9: 5,352,263	C155F	probably benign	Het
Clpp	T	C	17: 56,990,661	V81A	probably benign	Het
Cyp3a59	A	T	5: 146,090,685	I89F	possibly damaging	Het
Fam227b	C	A	2: 126,121,062	W178L	probably damaging	Het
Fcna	C	A	2: 25,624,851	R332L	probably damaging	Het
Gdf3	T	G	6: 122,606,607	H267P	probably damaging	Het
Gm4450	G	A	3: 98,456,415	T38I	probably benign	Het
Gm5592	A	G	7: 41,288,551	D419G	probably benign	Het
Gm6882	A	G	7: 21,427,295	V216A	probably damaging	Het
Gsdma3	A	G	11: 98,629,777	N78S	probably benign	Het
Hydin	T	C	8: 110,569,392	I3579T	probably benign	Het
Ighmbp2	T	C	19: 3,261,590	I942V	probably damaging	Het
Lamc1	A	G	1: 153,230,769	Y1266H	probably damaging	Het
Lgi3	T	C	14: 70,534,806	Y264H	probably benign	Het
Lmod2	G	A	6: 24,603,385	E120K	possibly damaging	Het
Mbl2	G	T	19: 30,239,484	C232F	probably damaging	Het
Morc1	T	C	16: 48,460,740	V214A	probably damaging	Het
Nlrp4b	T	A	7: 10,725,953	C827*	probably null	Het
Olfr1086	A	G	2: 86,676,805	F176S	probably damaging	Het
Olfr358	T	A	2: 37,004,646	T323S	probably benign	Het
Pbrm1	T	A	14: 31,027,462	H72Q	possibly damaging	Het
Plekhm2	T	C	4: 141,627,825	I944V	probably benign	Het
Prdm8	A	T	5: 98,184,531	D97V	probably damaging	Het
Prkcd	T	C	14: 30,609,251	K56E	probably benign	Het
Slit3	A	T	11: 35,610,611	I391F	probably damaging	Het
Spata19	A	G	9: 27,397,970	S91G	probably benign	Het
Stag3	A	G	5: 138,308,588	T1134A	probably benign	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmtc2	A	T	10: 105,413,236	I212N	probably damaging	Het
Tnfrsf26	C	T	7: 143,614,902	R133K	probably benign	Het
Trim43c	C	A	9: 88,843,138	Q238K	probably benign	Het
Vcan	T	C	13: 89,688,743	D2894G	probably benign	Het
Wisp3	T	A	10: 39,151,211	R342*	probably null	Het
Zeb2	C	T	2: 45,022,996	S105N	probably damaging	Het

Other mutations in Preb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Preb	APN	5	30955964	missense	probably damaging	1.00
IGL01344:Preb	APN	5	30956044	missense	probably damaging	0.99
IGL03383:Preb	APN	5	30958321	missense	probably damaging	1.00
R1520:Preb	UTSW	5	30958524	missense	probably benign	0.14
R1987:Preb	UTSW	5	30958813	missense	probably damaging	1.00
R2327:Preb	UTSW	5	30958505	missense	probably damaging	0.99
R5607:Preb	UTSW	5	30959963	splice site	probably benign
R5769:Preb	UTSW	5	30958291	nonsense	probably null
R5831:Preb	UTSW	5	30958864	missense	probably benign
R6271:Preb	UTSW	5	30958051	missense	probably damaging	0.99
R6539:Preb	UTSW	5	30956076	missense	probably benign	0.03
R7575:Preb	UTSW	5	30958495	missense	probably damaging	1.00
R7873:Preb	UTSW	5	30958765	missense	probably benign	0.05
R8515:Preb	UTSW	5	30959378	missense	probably damaging	1.00
X0065:Preb	UTSW	5	30958936	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TATAACCTGTTCTCAGTGGCC -3'
(R):5'- TCATCGTCATTCGGGGCTAG -3'

Sequencing Primer
(F):5'- TGTTCTCAGTGGCCCTGCG -3'
(R):5'- GCACTGAACGCCTGCAAG -3'

Posted On

2020-10-20