Mutagenetix > Incidental Mutation

Incidental Mutation 'R0765:Prpf38b'

72594

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

038945-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0765 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

108810121-108819043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108818734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 9 (T9A)

Ref Sequence

ENSEMBL: ENSMUSP00000029480 (fasta)

Gene Model

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

AlphaFold

Q80SY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029480
AA Change: T9A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029480
Gene: ENSMUSG00000027881
AA Change: T9A

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 benign
Transcript: ENSMUST00000129273
AA Change: T9A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143724
Gene: ENSMUSG00000027881
AA Change: T9A

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
AA Change: T9A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142929
Gene: ENSMUSG00000027881
AA Change: T9A

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

0.0614

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,827 (GRCm39)	V425D	probably benign	Het
Ano9	T	G	7: 140,687,097 (GRCm39)	I381L	probably damaging	Het
Apob	C	T	12: 8,066,518 (GRCm39)	L4496F	probably benign	Het
Arhgef38	C	T	3: 132,822,344 (GRCm39)	E724K	probably damaging	Het
Atp8b4	T	A	2: 126,214,070 (GRCm39)		probably null	Het
Baiap2l1	G	T	5: 144,214,513 (GRCm39)	P394T	probably damaging	Het
Btbd8	T	A	5: 107,654,800 (GRCm39)	D354E	probably benign	Het
Cnbp	C	A	6: 87,822,155 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,375,811 (GRCm39)		probably benign	Het
Colq	T	G	14: 31,247,994 (GRCm39)	D408A	possibly damaging	Het
Cuzd1	A	T	7: 130,917,824 (GRCm39)	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,327,220 (GRCm39)		probably benign	Het
Dbn1	C	A	13: 55,630,107 (GRCm39)	V112F	probably damaging	Het
Dcc	T	A	18: 71,496,061 (GRCm39)	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,681,318 (GRCm39)	V32A	probably damaging	Het
Dsg4	G	A	18: 20,587,703 (GRCm39)		probably benign	Het
Dyrk1b	C	T	7: 27,885,136 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,759,987 (GRCm39)	M208K	probably damaging	Het
Efhc1	A	G	1: 21,048,876 (GRCm39)	I430V	probably benign	Het
Elovl2	T	C	13: 41,340,942 (GRCm39)	Y181C	probably benign	Het
Fras1	A	G	5: 96,700,655 (GRCm39)	Q225R	probably benign	Het
Frmd3	G	A	4: 74,080,004 (GRCm39)	R332Q	probably damaging	Het
Glg1	A	G	8: 111,886,429 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,684,538 (GRCm39)	T344M	probably damaging	Het
Il1rap	T	G	16: 26,529,382 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,356,055 (GRCm39)		probably benign	Het
Larp7	C	A	3: 127,339,814 (GRCm39)	K289N	probably damaging	Het
Lgr6	C	A	1: 134,921,624 (GRCm39)	G240V	probably benign	Het
Lrp10	G	T	14: 54,705,547 (GRCm39)	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,202,269 (GRCm39)	V167I	probably damaging	Het
Med23	T	C	10: 24,776,608 (GRCm39)	S347P	probably damaging	Het
Mybph	T	C	1: 134,125,234 (GRCm39)	V254A	possibly damaging	Het
Ndufv2	A	G	17: 66,408,073 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,350,505 (GRCm39)		probably benign	Het
Nup210l	T	C	3: 90,027,184 (GRCm39)	Y189H	probably damaging	Het
Or4c52	G	A	2: 89,846,014 (GRCm39)	V247I	probably benign	Het
Or51t4	C	T	7: 102,597,939 (GRCm39)	T79I	probably damaging	Het
Or5m13	T	C	2: 85,749,049 (GRCm39)	L260P	probably damaging	Het
Pdgfra	C	A	5: 75,348,648 (GRCm39)		probably benign	Het
Phlpp1	T	C	1: 106,320,013 (GRCm39)	L1336P	probably damaging	Het
Rnf213	G	A	11: 119,313,921 (GRCm39)		probably null	Het
Saal1	A	T	7: 46,349,071 (GRCm39)	V281E	possibly damaging	Het
Slc17a3	C	T	13: 24,030,879 (GRCm39)	Q186*	probably null	Het
Slc6a2	A	G	8: 93,715,659 (GRCm39)	T266A	probably damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
Srfbp1	T	C	18: 52,623,507 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,446,706 (GRCm39)	P365S	possibly damaging	Het
Tmem127	C	A	2: 127,099,069 (GRCm39)	T201K	probably damaging	Het
Trim17	T	G	11: 58,862,195 (GRCm39)	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,723,969 (GRCm39)	T165I	probably benign	Het
Ush2a	C	A	1: 188,680,771 (GRCm39)	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 12,953,467 (GRCm39)	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,448,119 (GRCm39)	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,665,015 (GRCm39)		noncoding transcript	Het
Zdbf2	G	A	1: 63,344,882 (GRCm39)	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,758,693 (GRCm39)	P659S	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
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

Predicted Primers

PCR Primer
(F):5'- ACCACCTCGTGGTAGGTCTTGAGC -3'
(R):5'- CCAGGAAGAGGAATAGCCTGCACAC -3'

Sequencing Primer
(F):5'- CGACGACAGGATGTTGGTG -3'
(R):5'- CACGGCCTTAGCTCGAAC -3'

Posted On

2013-09-30