Mutagenetix > Incidental Mutation

Incidental Mutation 'R3426:Prelid1'

267889

Institutional Source

Beutler Lab

Gene Symbol

Prelid1

Ensembl Gene

ENSMUSG00000021486

Gene Name

PRELI domain containing 1

Synonyms

2610524G07Rik

MMRRC Submission

040644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55469868-55473085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55470007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 2 (V2G)

Ref Sequence

ENSEMBL: ENSMUSP00000021942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021941] [ENSMUST00000021942] [ENSMUST00000035242] [ENSMUST00000099490] [ENSMUST00000224685]

AlphaFold

Q8R107

Predicted Effect

probably benign
Transcript: ENSMUST00000021941

SMART Domains

Protein: ENSMUSP00000021941
Gene: ENSMUSG00000021485

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
HLH	63	115	5.8e-11	SMART
low complexity region	119	138	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021942
AA Change: V2G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021942
Gene: ENSMUSG00000021486
AA Change: V2G

Domain	Start	End	E-Value	Type
Pfam:PRELI	16	172	1.9e-61	PFAM
coiled coil region	178	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035242

SMART Domains

Protein: ENSMUSP00000046188
Gene: ENSMUSG00000034789

Domain	Start	End	E-Value	Type
RAB	8	175	2.39e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099490

SMART Domains

Protein: ENSMUSP00000097089
Gene: ENSMUSG00000021488

Domain	Start	End	E-Value	Type
low complexity region	177	187	N/A	INTRINSIC
low complexity region	281	289	N/A	INTRINSIC
PWWP	322	388	1.97e-3	SMART
low complexity region	635	644	N/A	INTRINSIC
low complexity region	980	1000	N/A	INTRINSIC
low complexity region	1296	1309	N/A	INTRINSIC
PHD	1546	1588	4.25e-8	SMART
PHD	1593	1640	3.79e-5	SMART
RING	1594	1639	1.08e-1	SMART
PHD	1641	1694	1.09e1	SMART
PHD	1710	1750	1.02e-10	SMART
PWWP	1755	1817	8.87e-29	SMART
AWS	1891	1942	3.02e-22	SMART
SET	1943	2066	1e-45	SMART
PostSET	2067	2083	3.99e-3	SMART
PHD	2121	2164	1.08e-9	SMART
low complexity region	2224	2237	N/A	INTRINSIC
low complexity region	2276	2286	N/A	INTRINSIC
low complexity region	2335	2356	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223672

Predicted Effect

probably benign
Transcript: ENSMUST00000224685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224220

Meta Mutation Damage Score

0.1284

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a B cell specific deletion of this gene are viable and fertile with no discernible B cell abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	A	8: 25,157,620 (GRCm39)	C110F	probably damaging	Het
Adrb3	T	C	8: 27,718,209 (GRCm39)	D80G	probably damaging	Het
Akap6	A	T	12: 52,934,817 (GRCm39)	N770Y	probably damaging	Het
Ank3	A	G	10: 69,542,724 (GRCm39)	H28R	probably benign	Het
Atrn	A	G	2: 130,862,876 (GRCm39)	M1319V	probably benign	Het
BC034090	T	C	1: 155,117,244 (GRCm39)	I291M	probably benign	Het
Cc2d2a	T	C	5: 43,893,451 (GRCm39)	S1416P	probably benign	Het
Chd6	G	T	2: 160,832,175 (GRCm39)	T999N	probably damaging	Het
Col9a2	C	A	4: 120,907,604 (GRCm39)	A335E	possibly damaging	Het
Epb42	A	T	2: 120,860,520 (GRCm39)	L160M	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Igtp	G	A	11: 58,097,419 (GRCm39)	V197I	probably damaging	Het
Nup214	G	A	2: 31,923,415 (GRCm39)	V1315M	probably damaging	Het
Or4c100	T	A	2: 88,356,208 (GRCm39)	C94S	probably damaging	Het
Plek	T	C	11: 16,940,142 (GRCm39)	Y166C	probably damaging	Het
Prdm4	T	C	10: 85,746,153 (GRCm39)	N85D	probably damaging	Het
Serac1	T	C	17: 6,117,053 (GRCm39)	I168V	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc22a5	A	G	11: 53,760,152 (GRCm39)	V388A	probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpv3	A	T	11: 73,176,767 (GRCm39)	Y382F	probably damaging	Het
Ttyh1	T	C	7: 4,136,218 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,279,365 (GRCm39)	Y681C	probably damaging	Het
Unc80	G	A	1: 66,678,464 (GRCm39)	V2082I	probably benign	Het
Utp14b	T	C	1: 78,643,056 (GRCm39)	M318T	probably damaging	Het
Vars2	A	T	17: 35,972,866 (GRCm39)	I442N	probably damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Wtap	C	T	17: 13,186,425 (GRCm39)	R374Q	possibly damaging	Het
Zfp606	T	C	7: 12,223,591 (GRCm39)	M34T	probably damaging	Het

Other mutations in Prelid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02967:Prelid1	APN	13	55,472,219 (GRCm39)	missense	probably benign	0.03
R0316:Prelid1	UTSW	13	55,472,220 (GRCm39)	missense	possibly damaging	0.90
R0613:Prelid1	UTSW	13	55,472,156 (GRCm39)	nonsense	probably null
R3428:Prelid1	UTSW	13	55,470,007 (GRCm39)	missense	probably benign	0.00
R7359:Prelid1	UTSW	13	55,469,088 (GRCm39)	unclassified	probably benign
R8407:Prelid1	UTSW	13	55,470,672 (GRCm39)	missense	probably damaging	1.00
R8419:Prelid1	UTSW	13	55,470,698 (GRCm39)	missense	probably damaging	1.00
R8497:Prelid1	UTSW	13	55,470,833 (GRCm39)	missense	probably damaging	1.00
R9168:Prelid1	UTSW	13	55,470,010 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCGTGCAGTCCTATAACCCC -3'
(R):5'- TTGTGCTATAACTGTGGCCAC -3'

Sequencing Primer
(F):5'- GTGCAGTCCTATAACCCCTGATGG -3'
(R):5'- GATAGCCCACATCGGACTCTGTC -3'

Posted On

2015-02-18