Mutagenetix > Incidental Mutation

Incidental Mutation 'R2294:Prelid3a'

245121

Institutional Source

Beutler Lab

Gene Symbol

Prelid3a

Ensembl Gene

ENSMUSG00000024530

Gene Name

PRELI domain containing 3A

Synonyms

A230074A19Rik, Slmo1

MMRRC Submission

040293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R2294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67597936-67612905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67605941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 16 (T16M)

Ref Sequence

ENSEMBL: ENSMUSP00000025411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025411]

AlphaFold

Q8VE85

Predicted Effect

probably damaging
Transcript: ENSMUST00000025411
AA Change: T16M

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

SMART Domains

Protein: ENSMUSP00000025411
Gene: ENSMUSG00000024530
AA Change: T16M

Domain	Start	End	E-Value	Type
Pfam:PRELI	15	170	1.7e-52	PFAM

Meta Mutation Damage Score

0.3125

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,495,322 (GRCm39)	V673I	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Chchd3	T	C	6: 32,829,122 (GRCm39)	E166G	probably damaging	Het
Chrna7	A	T	7: 62,760,172 (GRCm39)	S135T	probably benign	Het
Dxo	G	A	17: 35,057,962 (GRCm39)		probably null	Het
Fbxw18	A	G	9: 109,505,865 (GRCm39)	S469P	probably damaging	Het
G3bp2	G	A	5: 92,205,887 (GRCm39)	R290C	probably damaging	Het
Hydin	T	C	8: 111,026,591 (GRCm39)	L103P	probably damaging	Het
Lrig3	C	T	10: 125,802,363 (GRCm39)	R7*	probably null	Het
Lrp6	A	G	6: 134,434,705 (GRCm39)	C1333R	probably damaging	Het
Luzp2	T	C	7: 54,821,938 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,680 (GRCm39)	N154I	probably damaging	Het
Ndufs1	A	T	1: 63,200,155 (GRCm39)	D252E	probably damaging	Het
Nos3	T	A	5: 24,569,855 (GRCm39)	V7E	probably damaging	Het
Or1e33	A	G	11: 73,738,312 (GRCm39)	L213P	probably damaging	Het
Osbpl6	A	T	2: 76,407,423 (GRCm39)	D446V	possibly damaging	Het
Pik3c2b	C	A	1: 132,994,513 (GRCm39)	P159H	probably damaging	Het
Pkhd1l1	C	T	15: 44,343,003 (GRCm39)	T160I	probably damaging	Het
Prl7b1	A	T	13: 27,786,854 (GRCm39)	M125K	possibly damaging	Het
Rars1	C	A	11: 35,708,363 (GRCm39)		probably benign	Het
Ripk1	A	G	13: 34,200,991 (GRCm39)	T235A	probably benign	Het
Slc38a2	C	A	15: 96,589,643 (GRCm39)	V363L	probably benign	Het
Slc6a21	G	A	7: 44,929,952 (GRCm39)	A147T	possibly damaging	Het
Tgfb3	T	C	12: 86,116,684 (GRCm39)	N118S	probably benign	Het
Tmem175	T	C	5: 108,786,525 (GRCm39)		probably benign	Het
Tmem232	A	T	17: 65,757,436 (GRCm39)	N252K	probably benign	Het
Trappc8	G	T	18: 20,999,211 (GRCm39)	C305*	probably null	Het
Tyro3	T	C	2: 119,636,126 (GRCm39)	V223A	probably damaging	Het
Yipf2	C	T	9: 21,501,177 (GRCm39)	V74M	probably damaging	Het

Other mutations in Prelid3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02702:Prelid3a	APN	18	67,606,864 (GRCm39)	missense	probably damaging	1.00
IGL03059:Prelid3a	APN	18	67,609,909 (GRCm39)	nonsense	probably null
R4112:Prelid3a	UTSW	18	67,605,967 (GRCm39)	missense	probably damaging	1.00
R4113:Prelid3a	UTSW	18	67,605,967 (GRCm39)	missense	probably damaging	1.00
R5553:Prelid3a	UTSW	18	67,610,093 (GRCm39)	missense	probably damaging	1.00
R5951:Prelid3a	UTSW	18	67,598,011 (GRCm39)	missense	probably benign
R8207:Prelid3a	UTSW	18	67,606,018 (GRCm39)	missense	probably benign	0.00
R8445:Prelid3a	UTSW	18	67,606,848 (GRCm39)	missense	probably damaging	1.00
R8698:Prelid3a	UTSW	18	67,610,122 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAAAGCCAGAGATCAACTAAGCTTG -3'
(R):5'- ACTCTGCCTGGCCATTTGTG -3'

Sequencing Primer
(F):5'- AACTAAGCTTGATGGCCCTG -3'
(R):5'- TTGTGGCATCCCTCAGCAGTAAG -3'

Posted On

2014-10-30