Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00157:Preb'

1664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Preb

Ensembl Gene

ENSMUSG00000045302

Gene Name

prolactin regulatory element binding

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.946) question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

30950853-30960361 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30955964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 375 (D375E)

Ref Sequence

ENSEMBL: ENSMUSP00000074387 (fasta)

Gene Model

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

AlphaFold

Q9WUQ2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000006814

SMART Domains

Protein: ENSMUSP00000143649
Gene: ENSMUSG00000006638

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Hydrolase_4	127	371	1.3e-9	PFAM
Pfam:Abhydrolase_1	131	373	1.4e-12	PFAM
Pfam:Abhydrolase_5	132	367	2.8e-8	PFAM
Pfam:Abhydrolase_6	133	377	1.1e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000074840
AA Change: D375E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: D375E

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

noncoding transcript
Transcript: ENSMUST00000200756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200836

Predicted Effect

probably benign
Transcript: ENSMUST00000201002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201730

Predicted Effect

probably benign
Transcript: ENSMUST00000201821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202472

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202930

Coding Region Coverage

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 44,253,451	V331A	possibly damaging	Het
Casr	C	A	16: 36,495,810	V633F	probably damaging	Het
Cblb	T	G	16: 52,183,307	V716G	probably benign	Het
Cbln2	C	T	18: 86,716,384	Q156*	probably null	Het
Cnn1	G	T	9: 22,099,397	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,364,247		noncoding transcript	Het
Drd1	A	G	13: 54,053,878	S99P	probably damaging	Het
Fam35a	A	G	14: 34,268,625	V108A	probably benign	Het
Fat1	T	C	8: 44,951,670	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,540,039	N416S	probably damaging	Het
Gm10735	T	C	13: 113,041,484		probably benign	Het
Gm8909	A	T	17: 36,165,354		probably null	Het
Jag2	T	C	12: 112,912,718	T790A	probably benign	Het
Klhdc1	T	A	12: 69,242,008	Y31N	possibly damaging	Het
Lama1	A	T	17: 67,815,928	M2769L	probably benign	Het
Mms19	A	G	19: 41,945,457		probably null	Het
Msrb2	C	A	2: 19,394,341	P172T	probably damaging	Het
Olfr228	T	C	2: 86,483,218	S175G	probably benign	Het
Olfr955	A	G	9: 39,470,243	V161A	probably benign	Het
Pcdhb9	T	A	18: 37,403,279	D775E	possibly damaging	Het
Pkhd1	T	C	1: 20,566,874		probably null	Het
Prkdc	T	C	16: 15,697,226	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,498,897		probably null	Het
Sept9	A	G	11: 117,352,184	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,035,625	E178D	probably benign	Het
Tg	A	G	15: 66,847,166	Y258C	probably damaging	Het
Tmprss7	T	C	16: 45,663,368	R548G	probably benign	Het
Uba7	G	A	9: 107,979,111	A536T	probably benign	Het
Vmn2r114	G	A	17: 23,291,665	P614S	probably damaging	Het
Xpc	A	G	6: 91,492,264		probably benign	Het
Yrdc	T	C	4: 124,853,961	S86P	probably damaging	Het
Zbed6	G	T	1: 133,657,376	A741D	probably damaging	Het

Other mutations in Preb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8417:Preb	UTSW	5	30960117	start gained	probably benign
R8515:Preb	UTSW	5	30959378	missense	probably damaging	1.00
R8948:Preb	UTSW	5	30958327	missense	probably damaging	0.96
R9037:Preb	UTSW	5	30959246	missense	probably benign	0.00
R9062:Preb	UTSW	5	30958852	missense	probably benign	0.00
R9332:Preb	UTSW	5	30956329	nonsense	probably null
R9348:Preb	UTSW	5	30955651	missense	probably benign	0.19
X0065:Preb	UTSW	5	30958936	missense	probably benign	0.01

Posted On

2011-07-12