Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03269:Prpf38b'

415193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf38b

Ensembl Gene

ENSMUSG00000027881

Gene Name

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

Synonyms

1110021E09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03269

Quality Score

Status

Chromosome

Chromosomal Location

108810121-108819043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108812557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 219 (F219L)

Ref Sequence

ENSEMBL: ENSMUSP00000029480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029480] [ENSMUST00000129273] [ENSMUST00000199735]

AlphaFold

Q80SY5

Predicted Effect

probably benign
Transcript: ENSMUST00000029480
AA Change: F219L

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881
AA Change: F219L

Domain	Start	End	E-Value	Type
low complexity region	13	35	N/A	INTRINSIC
Pfam:PRP38	48	232	5.4e-59	PFAM
low complexity region	240	253	N/A	INTRINSIC
low complexity region	257	291	N/A	INTRINSIC
coiled coil region	293	322	N/A	INTRINSIC
low complexity region	400	439	N/A	INTRINSIC
low complexity region	443	457	N/A	INTRINSIC
low complexity region	467	478	N/A	INTRINSIC
low complexity region	480	506	N/A	INTRINSIC
low complexity region	510	534	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127478

Predicted Effect

probably benign
Transcript: ENSMUST00000129273

SMART Domains

Protein: ENSMUSP00000143724
Gene: ENSMUSG00000027881

Domain	Start	End	E-Value	Type
low complexity region	13	35	N/A	INTRINSIC
Pfam:PRP38	48	93	2.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197805

Predicted Effect

probably benign
Transcript: ENSMUST00000199735

SMART Domains

Protein: ENSMUSP00000142929
Gene: ENSMUSG00000027881

Domain	Start	End	E-Value	Type
low complexity region	13	35	N/A	INTRINSIC
Pfam:PRP38	43	150	2e-16	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	A	2: 26,998,367 (GRCm39)	C930*	probably null	Het
Ankar	A	T	1: 72,704,360 (GRCm39)	V854E	probably damaging	Het
Ceacam3	T	A	7: 16,895,767 (GRCm39)	L579Q	probably damaging	Het
Clip2	G	T	5: 134,545,748 (GRCm39)	H314Q	probably damaging	Het
Fbxo28	A	G	1: 182,144,583 (GRCm39)	V327A	possibly damaging	Het
Gdap1	T	A	1: 17,231,729 (GRCm39)	F358Y	probably benign	Het
Ift70a2	T	C	2: 75,808,479 (GRCm39)	D11G	possibly damaging	Het
Ighv1-18	T	C	12: 114,646,466 (GRCm39)	Y46C	probably damaging	Het
Il1rl2	T	A	1: 40,404,472 (GRCm39)	F531Y	probably damaging	Het
Irf6	A	G	1: 192,844,906 (GRCm39)		probably benign	Het
Ncoa6	T	C	2: 155,248,409 (GRCm39)	T1632A	probably damaging	Het
Odad3	A	G	9: 21,909,339 (GRCm39)		probably null	Het
Or4l1	T	A	14: 50,166,165 (GRCm39)	T279S	probably damaging	Het
Or5b3	T	A	19: 13,388,792 (GRCm39)	N286K	probably damaging	Het
Or8b43	A	G	9: 38,360,197 (GRCm39)	T10A	probably benign	Het
Osgepl1	C	A	1: 53,360,271 (GRCm39)	Y332*	probably null	Het
Pibf1	G	A	14: 99,425,171 (GRCm39)	A553T	probably damaging	Het
Pwp1	C	A	10: 85,718,768 (GRCm39)	Q312K	probably damaging	Het
Rnf17	T	C	14: 56,665,403 (GRCm39)	V185A	possibly damaging	Het
Serpina3k	T	C	12: 104,306,780 (GRCm39)	I4T	possibly damaging	Het
Slc33a1	A	G	3: 63,871,178 (GRCm39)	V145A	probably damaging	Het
Slco3a1	T	C	7: 73,968,280 (GRCm39)	D480G	possibly damaging	Het
Tdpoz4	G	A	3: 93,704,144 (GRCm39)	C147Y	probably damaging	Het
Tlr4	C	A	4: 66,759,033 (GRCm39)	P609T	probably damaging	Het
Trgv4	T	A	13: 19,369,622 (GRCm39)	I122K	probably damaging	Het
Unc79	A	G	12: 103,054,936 (GRCm39)	K927E	probably damaging	Het
Vmn1r71	G	A	7: 10,482,571 (GRCm39)	T39I	possibly damaging	Het
Vmn2r9	A	G	5: 108,995,820 (GRCm39)	L276P	probably damaging	Het
Zfp335	C	A	2: 164,742,274 (GRCm39)	R570L	probably damaging	Het

Other mutations in Prpf38b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01944:Prpf38b	APN	3	108,811,991 (GRCm39)	missense	probably benign	0.23
IGL03145:Prpf38b	APN	3	108,811,261 (GRCm39)	utr 3 prime	probably benign
R0482:Prpf38b	UTSW	3	108,812,586 (GRCm39)	missense	probably damaging	1.00
R0765:Prpf38b	UTSW	3	108,818,734 (GRCm39)	missense	possibly damaging	0.53
R3724:Prpf38b	UTSW	3	108,811,656 (GRCm39)	utr 3 prime	probably benign
R3934:Prpf38b	UTSW	3	108,811,741 (GRCm39)	utr 3 prime	probably benign
R4367:Prpf38b	UTSW	3	108,818,487 (GRCm39)	missense	probably damaging	1.00
R4649:Prpf38b	UTSW	3	108,811,408 (GRCm39)	utr 3 prime	probably benign
R4651:Prpf38b	UTSW	3	108,811,408 (GRCm39)	utr 3 prime	probably benign
R4653:Prpf38b	UTSW	3	108,811,408 (GRCm39)	utr 3 prime	probably benign
R5073:Prpf38b	UTSW	3	108,818,484 (GRCm39)	missense	probably damaging	1.00
R6795:Prpf38b	UTSW	3	108,811,980 (GRCm39)	utr 3 prime	probably benign
R6979:Prpf38b	UTSW	3	108,818,640 (GRCm39)	missense	probably benign	0.01
R7500:Prpf38b	UTSW	3	108,812,446 (GRCm39)	missense	probably benign	0.33
R8045:Prpf38b	UTSW	3	108,811,350 (GRCm39)	missense	unknown
R8210:Prpf38b	UTSW	3	108,815,148 (GRCm39)	utr 3 prime	probably benign
R9087:Prpf38b	UTSW	3	108,811,657 (GRCm39)	missense	unknown
R9514:Prpf38b	UTSW	3	108,818,619 (GRCm39)	missense	probably benign	0.02
R9667:Prpf38b	UTSW	3	108,818,859 (GRCm39)	unclassified	probably benign

Posted On

2016-08-02