Mutagenetix > Incidental Mutation

Incidental Mutation 'R3934:Prpf38b'

306928

Institutional Source

Beutler Lab

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 #

R3934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108810121-108819043 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 108811741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142929 (fasta)

Gene Model

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

AlphaFold

Q80SY5

Predicted Effect

unknown
Transcript: ENSMUST00000029480
AA Change: R375G

SMART Domains

Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881
AA Change: R375G

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

Meta Mutation Damage Score

0.0823

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	T	A	12: 18,584,082 (GRCm39)	Y381N	possibly damaging	Het
Adgrf3	T	C	5: 30,405,432 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,623,166 (GRCm39)	F3819S	probably benign	Het
Aig1	T	C	10: 13,677,656 (GRCm39)	D112G	probably damaging	Het
Akap6	C	T	12: 53,187,227 (GRCm39)	T1547M	possibly damaging	Het
Alk	T	A	17: 72,512,949 (GRCm39)	I337F	probably damaging	Het
C2cd5	C	T	6: 142,987,106 (GRCm39)	V499I	possibly damaging	Het
Capn11	A	T	17: 45,945,213 (GRCm39)		probably benign	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Cmbl	A	G	15: 31,589,933 (GRCm39)	D221G	possibly damaging	Het
Enpp2	A	G	15: 54,709,317 (GRCm39)	V766A	probably benign	Het
Fastk	G	T	5: 24,647,257 (GRCm39)	S317*	probably null	Het
Fgfr1op2	T	A	6: 146,496,669 (GRCm39)		probably benign	Het
Gpr85	A	G	6: 13,836,044 (GRCm39)	F287L	probably benign	Het
Hectd4	G	A	5: 121,458,164 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,270,496 (GRCm39)		probably null	Het
Hspbp1	A	T	7: 4,667,594 (GRCm39)	M271K	probably benign	Het
Itgb6	G	A	2: 60,441,755 (GRCm39)	T685M	possibly damaging	Het
Itih5	G	A	2: 10,250,355 (GRCm39)	V685I	probably damaging	Het
Kalrn	T	C	16: 34,130,901 (GRCm39)	S421G	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mitf	C	T	6: 97,970,214 (GRCm39)	P54S	probably damaging	Het
Perm1	A	G	4: 156,303,627 (GRCm39)	T724A	probably benign	Het
Pex5l	T	C	3: 33,061,321 (GRCm39)	E176G	probably damaging	Het
Polk	A	T	13: 96,638,143 (GRCm39)	M192K	possibly damaging	Het
Polr3a	T	C	14: 24,526,169 (GRCm39)	I401V	probably benign	Het
Sema3c	T	C	5: 17,886,938 (GRCm39)	S330P	probably damaging	Het
Slc16a7	C	A	10: 125,066,712 (GRCm39)	R309L	probably damaging	Het
Slc35f1	C	T	10: 52,984,314 (GRCm39)	T358I	probably damaging	Het
Slc39a12	T	A	2: 14,439,174 (GRCm39)		probably benign	Het
Sod3	T	C	5: 52,525,987 (GRCm39)	S229P	probably benign	Het
Sorcs3	T	A	19: 48,701,943 (GRCm39)	V608D	probably damaging	Het
Spink5	G	T	18: 44,149,494 (GRCm39)	K958N	probably damaging	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 187,995,708 (GRCm39)		probably null	Het
Vmn2r19	T	A	6: 123,292,628 (GRCm39)	D223E	probably damaging	Het
Vwf	T	A	6: 125,532,462 (GRCm39)	S87T	probably damaging	Het
Wdr35	G	T	12: 9,058,014 (GRCm39)	G513C	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
IGL03269:Prpf38b	APN	3	108,812,557 (GRCm39)	missense	probably benign	0.23
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTCTCTCTGCTAGGGCTG -3'
(R):5'- ATCCCGAAGCATTGATCGG -3'

Sequencing Primer
(F):5'- AACACTGCCAGTTCTTCCTTGAC -3'
(R):5'- AAGCATTGATCGGGGCTTAGATC -3'

Posted On

2015-04-17