Mutagenetix > Incidental Mutation

Incidental Mutation 'R4367:Prpf38b'

325790

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

041673-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108810121-108819043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108818487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 91 (Y91C)

Ref Sequence

ENSEMBL: ENSMUSP00000142929 (fasta)

Gene Model

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

AlphaFold

Q80SY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029480
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881
AA Change: Y91C

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

probably damaging
Transcript: ENSMUST00000129273
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143724
Gene: ENSMUSG00000027881
AA Change: Y91C

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 damaging
Transcript: ENSMUST00000199735
AA Change: Y91C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142929
Gene: ENSMUSG00000027881
AA Change: Y91C

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

0.8211

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	T	C	18: 62,312,127 (GRCm39)	I233V	probably damaging	Het
Alox5	T	A	6: 116,437,924 (GRCm39)	Y21F	possibly damaging	Het
Ank2	T	C	3: 126,739,798 (GRCm39)	T1942A	probably benign	Het
Aoc1l1	T	C	6: 48,953,064 (GRCm39)	S330P	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bckdk	C	T	7: 127,505,591 (GRCm39)	A238V	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc39	T	C	3: 33,880,671 (GRCm39)	H432R	probably benign	Het
Cttnbp2	A	C	6: 18,405,248 (GRCm39)	C574G	probably damaging	Het
Cyp1a1	T	C	9: 57,607,432 (GRCm39)	V20A	probably benign	Het
Dhx38	C	T	8: 110,279,763 (GRCm39)	V976I	probably damaging	Het
Dnah6	A	G	6: 73,126,467 (GRCm39)	S1287P	possibly damaging	Het
Dnttip2	T	C	3: 122,070,146 (GRCm39)	S454P	probably damaging	Het
Drp2	A	T	X: 133,335,884 (GRCm39)		probably benign	Het
Flcn	C	T	11: 59,694,610 (GRCm39)	V121I	possibly damaging	Het
Fmo1	G	C	1: 162,661,217 (GRCm39)	Y355*	probably null	Het
Git2	T	A	5: 114,902,727 (GRCm39)	H138L	probably damaging	Het
Gpr162	G	A	6: 124,838,658 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnt1	T	C	2: 25,797,638 (GRCm39)	I881T	probably damaging	Het
Lama3	T	A	18: 12,646,747 (GRCm39)	C1754S	probably damaging	Het
Mpp3	A	T	11: 101,914,246 (GRCm39)	D116E	probably benign	Het
Myh11	T	C	16: 14,036,747 (GRCm39)	D985G	probably damaging	Het
Necap1	T	C	6: 122,864,337 (GRCm39)	V273A	probably damaging	Het
Nlrc5	T	C	8: 95,203,192 (GRCm39)	S431P	probably damaging	Het
Nutm2	A	T	13: 50,623,920 (GRCm39)	T206S	probably benign	Het
Or2d3	GAACAACAACAA	GAACAACAA	7: 106,490,567 (GRCm39)		probably benign	Het
Or5p79	C	T	7: 108,221,096 (GRCm39)	L26F	probably benign	Het
Or8g19	G	A	9: 39,055,725 (GRCm39)	A110T	probably damaging	Het
Phactr2	A	G	10: 13,129,564 (GRCm39)	S235P	probably damaging	Het
Podnl1	G	A	8: 84,853,897 (GRCm39)	R89H	probably benign	Het
Radil	C	T	5: 142,480,560 (GRCm39)	A632T	probably benign	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Sdf2	C	T	11: 78,141,863 (GRCm39)	T66I	probably damaging	Het
Specc1	T	C	11: 62,009,356 (GRCm39)	S371P	probably damaging	Het
Suco	T	C	1: 161,674,799 (GRCm39)	E416G	probably damaging	Het
Sys1	T	C	2: 164,303,315 (GRCm39)	W10R	probably damaging	Het
Tars3	C	T	7: 65,332,567 (GRCm39)	T556M	probably damaging	Het
Tcirg1	C	T	19: 3,949,069 (GRCm39)	D407N	probably damaging	Het
Tefm	G	T	11: 80,031,156 (GRCm39)	L27I	probably benign	Het
Tenm2	A	G	11: 35,918,225 (GRCm39)	I1845T	probably benign	Het
Tfam	A	T	10: 71,069,233 (GRCm39)	I119N	probably damaging	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Trpm6	T	C	19: 18,804,889 (GRCm39)	I947T	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Usp54	T	C	14: 20,611,202 (GRCm39)	T1205A	probably benign	Het
Vmn2r25	T	C	6: 123,805,496 (GRCm39)	R454G	probably damaging	Het
Xylb	T	C	9: 119,217,781 (GRCm39)	V477A	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
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
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'- TAAAGATCGATTGTGGCGGG -3'
(R):5'- AAGAGATCGAGCTCCTCTGCTG -3'

Sequencing Primer
(F):5'- GGCTCGCCCGGCTATTAAAAC -3'
(R):5'- ACGGCCTTCCATGGAGTAG -3'

Posted On

2015-07-06