Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02327:Prpf38a'

288514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf38a

Ensembl Gene

ENSMUSG00000063800

Gene Name

PRP38 pre-mRNA processing factor 38 (yeast) domain containing A

Synonyms

2410002M20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL02327

Quality Score

Status

Chromosome

Chromosomal Location

108422064-108436533 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108425607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 224 (R224G)

Ref Sequence

ENSEMBL: ENSMUSP00000078207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079213]

AlphaFold

Q4FK66

Predicted Effect

unknown
Transcript: ENSMUST00000079213
AA Change: R224G

SMART Domains

Protein: ENSMUSP00000078207
Gene: ENSMUSG00000063800
AA Change: R224G

Domain	Start	End	E-Value	Type
Pfam:PRP38	10	175	2.4e-67	PFAM
Pfam:PRP38_assoc	179	262	4e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132951

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd9	A	T	12: 110,943,849 (GRCm39)	C29S	probably damaging	Het
Ccdc66	G	A	14: 27,215,343 (GRCm39)	A399V	probably damaging	Het
Ccl12	A	G	11: 81,993,948 (GRCm39)	I68M	possibly damaging	Het
Cd244a	T	C	1: 171,386,909 (GRCm39)	V6A	probably benign	Het
Cfap97	T	A	8: 46,623,179 (GRCm39)	S190T	probably damaging	Het
Chic2	G	T	5: 75,187,741 (GRCm39)	C106*	probably null	Het
Ctdsp2	G	A	10: 126,832,251 (GRCm39)	D237N	probably benign	Het
Cyp2a22	A	T	7: 26,634,206 (GRCm39)	M316K	probably damaging	Het
Cyp3a25	A	G	5: 145,923,731 (GRCm39)	F304S	possibly damaging	Het
Ddc	A	T	11: 11,813,739 (GRCm39)	V209D	probably damaging	Het
Dhx16	A	G	17: 36,194,717 (GRCm39)	K446R	probably benign	Het
Fgd3	T	C	13: 49,439,274 (GRCm39)	K241E	probably damaging	Het
Hps1	G	T	19: 42,744,784 (GRCm39)		probably benign	Het
Inpp4b	C	T	8: 82,768,591 (GRCm39)	T700I	probably benign	Het
Kremen2	T	A	17: 23,962,543 (GRCm39)	M157L	probably benign	Het
Lrwd1	T	C	5: 136,152,318 (GRCm39)	Y582C	probably damaging	Het
Macf1	T	A	4: 123,365,523 (GRCm39)	R1514S	probably benign	Het
Mex3c	T	A	18: 73,723,781 (GRCm39)	C625S	probably damaging	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Ncf2	A	T	1: 152,692,744 (GRCm39)	Y87F	possibly damaging	Het
Neo1	T	C	9: 58,810,371 (GRCm39)	T1027A	probably benign	Het
Nfkbib	G	T	7: 28,458,568 (GRCm39)	P347Q	probably benign	Het
Nr1h2	G	A	7: 44,200,924 (GRCm39)		probably benign	Het
Or1e25	A	T	11: 73,493,981 (GRCm39)	T192S	probably damaging	Het
Or2t43	T	A	11: 58,457,761 (GRCm39)	R137W	probably damaging	Het
Or9m2	A	T	2: 87,820,601 (GRCm39)	I49F	probably damaging	Het
Oxct1	A	G	15: 4,066,571 (GRCm39)		probably null	Het
Pak1ip1	T	G	13: 41,165,893 (GRCm39)	N308K	probably benign	Het
Scfd1	T	C	12: 51,436,100 (GRCm39)	V83A	possibly damaging	Het
Tmem131	C	T	1: 36,838,103 (GRCm39)	G1545D	probably damaging	Het
Trav13n-4	A	T	14: 53,601,567 (GRCm39)		probably benign	Het
Ttc3	A	G	16: 94,248,967 (GRCm39)	D1155G	probably damaging	Het
Unc80	G	A	1: 66,680,832 (GRCm39)	V2143I	probably benign	Het
Vmn2r16	T	C	5: 109,487,987 (GRCm39)	Y287H	probably benign	Het
Vmn2r59	A	G	7: 41,661,655 (GRCm39)	V720A	probably benign	Het
Wars1	T	A	12: 108,832,227 (GRCm39)		probably null	Het
Wdcp	A	G	12: 4,901,115 (GRCm39)	K324E	possibly damaging	Het
Wdfy3	A	T	5: 102,036,058 (GRCm39)	L2105H	probably damaging	Het
Xirp2	A	T	2: 67,340,444 (GRCm39)	D895V	probably damaging	Het
Zscan10	A	T	17: 23,826,546 (GRCm39)		probably benign	Het

Other mutations in Prpf38a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Prpf38a	APN	4	108,436,238 (GRCm39)	missense	possibly damaging	0.67
IGL02407:Prpf38a	APN	4	108,424,836 (GRCm39)	missense	unknown
IGL02901:Prpf38a	APN	4	108,425,615 (GRCm39)	missense	probably damaging	1.00
IGL03069:Prpf38a	APN	4	108,432,628 (GRCm39)	missense	probably damaging	1.00
R4735:Prpf38a	UTSW	4	108,436,242 (GRCm39)	missense	possibly damaging	0.78
R4965:Prpf38a	UTSW	4	108,436,278 (GRCm39)	missense	probably benign	0.09
R5657:Prpf38a	UTSW	4	108,425,621 (GRCm39)	missense	probably damaging	0.99
R5685:Prpf38a	UTSW	4	108,427,351 (GRCm39)	critical splice donor site	probably null
R6882:Prpf38a	UTSW	4	108,427,365 (GRCm39)	missense	probably benign	0.04
R6923:Prpf38a	UTSW	4	108,427,401 (GRCm39)	missense	possibly damaging	0.68
R7813:Prpf38a	UTSW	4	108,436,277 (GRCm39)	missense	probably damaging	1.00
R8181:Prpf38a	UTSW	4	108,434,195 (GRCm39)	missense	probably benign	0.13
R9350:Prpf38a	UTSW	4	108,424,112 (GRCm39)	missense	unknown
R9450:Prpf38a	UTSW	4	108,430,072 (GRCm39)	missense	probably damaging	0.99
X0061:Prpf38a	UTSW	4	108,434,195 (GRCm39)	missense	probably benign	0.13

Posted On

2015-04-16