Mutagenetix > Incidental Mutation

Incidental Mutation 'R3724:Prpf38b'

270666

Institutional Source

Beutler Lab

Gene Symbol

Prpf38b

Ensembl Gene

ENSMUSG00000027881

Gene Name

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

Synonyms

1110021E09Rik

MMRRC Submission

040715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3724 (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 108811656 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: K403R

SMART Domains

Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881
AA Change: K403R

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

0.0577

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,876,099 (GRCm39)	R133L	probably damaging	Het
Abhd8	G	A	8: 71,914,136 (GRCm39)	A164V	probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Atl1	A	G	12: 70,006,154 (GRCm39)	T487A	probably damaging	Het
C2cd6	C	T	1: 59,105,394 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Ccna1	T	C	3: 54,958,353 (GRCm39)	E110G	probably damaging	Het
Ccne2	T	C	4: 11,203,039 (GRCm39)	C386R	probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ctdp1	C	T	18: 80,502,482 (GRCm39)	V143I	probably benign	Het
Cyp11a1	A	T	9: 57,926,605 (GRCm39)	M47L	probably benign	Het
Dnah5	T	C	15: 28,270,566 (GRCm39)	L956P	probably benign	Het
Enkd1	A	T	8: 106,430,557 (GRCm39)	V326E	possibly damaging	Het
Epha4	A	G	1: 77,403,180 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,254,662 (GRCm39)	D66G	probably damaging	Het
Evi5l	A	G	8: 4,228,080 (GRCm39)		probably benign	Het
Foxf2	A	G	13: 31,814,513 (GRCm39)	K409R	probably damaging	Het
Frem3	A	G	8: 81,341,900 (GRCm39)	T1398A	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gtdc1	T	C	2: 44,646,319 (GRCm39)	E44G	probably damaging	Het
Hmcn1	T	A	1: 150,565,269 (GRCm39)	Y2286F	possibly damaging	Het
Iars1	A	G	13: 49,840,860 (GRCm39)		probably null	Het
Ifna5	A	G	4: 88,754,171 (GRCm39)	E137G	probably damaging	Het
Itih4	G	A	14: 30,614,541 (GRCm39)	E468K	possibly damaging	Het
Kat6a	A	T	8: 23,352,804 (GRCm39)	H196L	probably damaging	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Klhl29	C	T	12: 5,140,603 (GRCm39)	V680I	probably damaging	Het
Marchf7	T	C	2: 60,060,089 (GRCm39)	I72T	probably benign	Het
Mbd6	C	T	10: 127,119,760 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mindy3	T	A	2: 12,360,165 (GRCm39)	M6L	probably damaging	Het
Mrpl9	T	A	3: 94,355,073 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,020,802 (GRCm39)	T430S	probably benign	Het
Or4ac1-ps1	T	G	2: 88,370,630 (GRCm39)		noncoding transcript	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Prkce	A	T	17: 86,476,051 (GRCm39)	K11*	probably null	Het
Pros1	T	C	16: 62,720,692 (GRCm39)	I117T	possibly damaging	Het
Sh3rf1	T	C	8: 61,825,756 (GRCm39)	S584P	probably benign	Het
Slit2	T	C	5: 48,414,225 (GRCm39)		probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,534,448 (GRCm39)	E280K	probably damaging	Het
Tenm3	A	G	8: 48,730,781 (GRCm39)	I1329T	probably damaging	Het
Tex2	G	A	11: 106,420,156 (GRCm39)	T869I	unknown	Het
Tlk2	A	G	11: 105,138,390 (GRCm39)	T281A	probably benign	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,260,396 (GRCm39)	F702L	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn2r20	T	A	6: 123,362,706 (GRCm39)	T693S	probably benign	Het
Zfand2b	A	G	1: 75,146,499 (GRCm39)	K125E	possibly damaging	Het
Zfp422	C	T	6: 116,603,340 (GRCm39)	A220T	probably benign	Het
Zfp747	A	T	7: 126,973,762 (GRCm39)	V136D	probably benign	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
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

Predicted Primers

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

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

Posted On

2015-03-18