Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Prpf40b'

584115

Institutional Source

Beutler Lab

Gene Symbol

Prpf40b

Ensembl Gene

ENSMUSG00000023007

Gene Name

pre-mRNA processing factor 40B

Synonyms

2610317D23Rik

MMRRC Submission

045616-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99192968-99214899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99203899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 154 (N154S)

Ref Sequence

ENSEMBL: ENSMUSP00000115869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000118287] [ENSMUST00000128352] [ENSMUST00000136980] [ENSMUST00000140806] [ENSMUST00000145482]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023745
AA Change: N154S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: N154S

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	693	776	N/A	INTRINSIC
low complexity region	777	796	N/A	INTRINSIC
low complexity region	809	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118287
AA Change: N154S

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: N154S

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	694	777	N/A	INTRINSIC
low complexity region	778	797	N/A	INTRINSIC
low complexity region	810	826	N/A	INTRINSIC
low complexity region	845	866	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128352

SMART Domains

Protein: ENSMUSP00000119556
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136980
AA Change: N148S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: N148S

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
low complexity region	22	46	N/A	INTRINSIC
low complexity region	50	81	N/A	INTRINSIC
WW	87	119	7.6e-9	SMART
WW	128	160	1.75e-8	SMART
low complexity region	176	206	N/A	INTRINSIC
low complexity region	249	261	N/A	INTRINSIC
FF	270	324	2.36e-14	SMART
FF	404	464	6.94e-3	SMART
FF	484	544	1.41e0	SMART
FF	613	669	3.41e-11	SMART
low complexity region	681	764	N/A	INTRINSIC
low complexity region	765	784	N/A	INTRINSIC
low complexity region	797	813	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140806

SMART Domains

Protein: ENSMUSP00000121260
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145482
AA Change: N154S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: N154S

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	693	708	N/A	INTRINSIC
low complexity region	719	780	N/A	INTRINSIC
low complexity region	781	800	N/A	INTRINSIC
low complexity region	813	829	N/A	INTRINSIC
low complexity region	848	869	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,089,765 (GRCm39)	V40I	probably damaging	Het
Abcb11	T	C	2: 69,095,830 (GRCm39)	K837E	probably benign	Het
Arhgef10	T	C	8: 15,029,854 (GRCm39)	S919P	probably benign	Het
Atxn2	T	C	5: 121,919,431 (GRCm39)	S530P	probably damaging	Het
Bicc1	T	C	10: 70,792,204 (GRCm39)	E268G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Capn7	T	G	14: 31,062,007 (GRCm39)	L40V	probably damaging	Het
Cd28	A	T	1: 60,808,859 (GRCm39)	N191I	probably damaging	Het
Cfap69	G	A	5: 5,645,936 (GRCm39)	T588M	not run	Het
Csmd1	T	C	8: 16,142,310 (GRCm39)	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,348,283 (GRCm39)	D398V	probably damaging	Het
Dchs2	T	C	3: 83,262,434 (GRCm39)	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,433,280 (GRCm39)	G37S	probably damaging	Het
Diaph1	A	T	18: 38,026,322 (GRCm39)		probably null	Het
Ech1	T	C	7: 28,525,392 (GRCm39)	V49A	probably benign	Het
Elovl4	T	C	9: 83,665,271 (GRCm39)	Y196C	probably damaging	Het
Ern2	G	A	7: 121,772,422 (GRCm39)	L679F	probably benign	Het
Fbf1	A	T	11: 116,056,659 (GRCm39)	M17K	probably benign	Het
Flvcr1	C	A	1: 190,758,143 (GRCm39)	G50W	probably damaging	Het
Fryl	A	G	5: 73,238,382 (GRCm39)	S1455P	probably benign	Het
Fzd9	A	G	5: 135,278,716 (GRCm39)	Y390H	probably damaging	Het
Gnai3	C	T	3: 108,025,702 (GRCm39)	V126M		Het
Gpc5	T	C	14: 115,665,585 (GRCm39)	F470L	probably damaging	Het
Grin1	T	C	2: 25,195,086 (GRCm39)	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,469,554 (GRCm39)	I117F	possibly damaging	Het
Hydin	A	T	8: 111,316,157 (GRCm39)	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,647,906 (GRCm39)	H152Q	probably benign	Het
Kcnk12	A	T	17: 88,053,493 (GRCm39)	S390T	possibly damaging	Het
Klra9	T	G	6: 130,168,183 (GRCm39)	T28P	probably benign	Het
Lef1	T	A	3: 130,988,414 (GRCm39)	I327N	probably damaging	Het
Lin54	A	G	5: 100,633,129 (GRCm39)	V185A	possibly damaging	Het
Lrrc37	T	C	11: 103,506,274 (GRCm39)	E1898G	probably benign	Het
Lrrc4b	A	T	7: 44,111,975 (GRCm39)	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Mars1	T	C	10: 127,147,479 (GRCm39)	E7G	probably benign	Het
Mpnd	G	A	17: 56,318,666 (GRCm39)	R225H	probably benign	Het
Muc4	T	A	16: 32,555,016 (GRCm39)	M1K	probably null	Het
Nckap5	A	G	1: 125,953,948 (GRCm39)	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,830,256 (GRCm39)	T618M	probably damaging	Het
Npas1	A	T	7: 16,194,899 (GRCm39)		probably null	Het
Nr2f2	A	T	7: 70,004,499 (GRCm39)	V384D	probably damaging	Het
Or10a3b	A	G	7: 108,444,528 (GRCm39)	S230P	probably benign	Het
Or1e19	A	G	11: 73,316,596 (GRCm39)	L71P	probably damaging	Het
Or4p8	T	A	2: 88,727,705 (GRCm39)	I79F	probably damaging	Het
Paip1	T	A	13: 119,582,337 (GRCm39)	F188I	probably damaging	Het
Pcdha4	A	T	18: 37,086,776 (GRCm39)	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427 (GRCm39)		probably null	Het
Pgpep1	C	T	8: 71,103,168 (GRCm39)	G110R	unknown	Het
Pidd1	T	A	7: 141,020,252 (GRCm39)	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,439,776 (GRCm39)		probably null	Het
Pramel18	T	C	4: 101,768,599 (GRCm39)	S317P	possibly damaging	Het
Pramel51	T	A	12: 88,142,850 (GRCm39)	Y451F	probably benign	Het
Prkcg	A	G	7: 3,359,081 (GRCm39)	D96G	probably benign	Het
Psg17	A	G	7: 18,553,897 (GRCm39)	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,214,509 (GRCm39)	I209T	probably damaging	Het
Reln	T	A	5: 22,181,276 (GRCm39)	K1835*	probably null	Het
Sf3b3	T	C	8: 111,564,915 (GRCm39)	M298V	probably benign	Het
Slc5a3	T	A	16: 91,874,682 (GRCm39)	N246K	probably benign	Het
Slmap	T	A	14: 26,151,001 (GRCm39)	E522D	probably damaging	Het
Slmap	C	T	14: 26,151,003 (GRCm39)	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,581,260 (GRCm39)	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,878,942 (GRCm39)		probably null	Het
Tet3	A	T	6: 83,381,623 (GRCm39)	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,121,895 (GRCm39)	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,171,040 (GRCm39)		probably benign	Het
Trak2	A	T	1: 58,960,227 (GRCm39)		probably null	Het
Trappc11	T	A	8: 47,975,449 (GRCm39)	E256D	possibly damaging	Het
Trim62	C	T	4: 128,796,346 (GRCm39)	T281I	probably benign	Het
Trip13	T	C	13: 74,081,021 (GRCm39)	E115G	probably benign	Het
Trp63	A	G	16: 25,620,837 (GRCm39)	T10A	probably benign	Het
Urah	A	T	7: 140,415,565 (GRCm39)	H11L	probably damaging	Het
Usp39	G	A	6: 72,319,891 (GRCm39)	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,128,738 (GRCm39)	T468A	probably benign	Het
Zfhx4	T	G	3: 5,477,875 (GRCm39)	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,897,184 (GRCm39)	R296H	probably benign	Het

Other mutations in Prpf40b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Prpf40b	APN	15	99,214,012 (GRCm39)	missense	probably benign	0.04
IGL00821:Prpf40b	APN	15	99,214,382 (GRCm39)	missense	probably benign	0.04
IGL00949:Prpf40b	APN	15	99,204,419 (GRCm39)	missense	probably benign	0.00
IGL01621:Prpf40b	APN	15	99,207,926 (GRCm39)	unclassified	probably benign
IGL01816:Prpf40b	APN	15	99,213,099 (GRCm39)	missense	probably damaging	1.00
IGL01878:Prpf40b	APN	15	99,204,413 (GRCm39)	missense	possibly damaging	0.84
IGL01886:Prpf40b	APN	15	99,202,328 (GRCm39)	missense	unknown
IGL02025:Prpf40b	APN	15	99,212,469 (GRCm39)	missense	probably damaging	1.00
IGL02440:Prpf40b	APN	15	99,204,747 (GRCm39)	missense	probably damaging	0.98
R0101:Prpf40b	UTSW	15	99,204,681 (GRCm39)	splice site	probably benign
R0284:Prpf40b	UTSW	15	99,214,274 (GRCm39)	splice site	probably benign
R0356:Prpf40b	UTSW	15	99,203,080 (GRCm39)	splice site	probably null
R0602:Prpf40b	UTSW	15	99,202,352 (GRCm39)	missense	unknown
R0632:Prpf40b	UTSW	15	99,214,170 (GRCm39)	missense	probably benign	0.04
R1220:Prpf40b	UTSW	15	99,214,229 (GRCm39)	missense	probably benign	0.10
R1660:Prpf40b	UTSW	15	99,203,442 (GRCm39)	missense	probably damaging	1.00
R2224:Prpf40b	UTSW	15	99,201,172 (GRCm39)	start gained	probably benign
R2245:Prpf40b	UTSW	15	99,203,047 (GRCm39)	intron	probably benign
R2342:Prpf40b	UTSW	15	99,204,049 (GRCm39)	missense	probably damaging	0.98
R4019:Prpf40b	UTSW	15	99,214,357 (GRCm39)	missense	probably benign	0.10
R4449:Prpf40b	UTSW	15	99,212,544 (GRCm39)	missense	probably damaging	1.00
R4622:Prpf40b	UTSW	15	99,214,197 (GRCm39)	missense	probably benign	0.01
R4869:Prpf40b	UTSW	15	99,207,726 (GRCm39)	intron	probably benign
R5960:Prpf40b	UTSW	15	99,212,785 (GRCm39)	missense	probably damaging	1.00
R6734:Prpf40b	UTSW	15	99,212,784 (GRCm39)	missense	probably damaging	1.00
R6735:Prpf40b	UTSW	15	99,212,784 (GRCm39)	missense	probably damaging	1.00
R6776:Prpf40b	UTSW	15	99,212,784 (GRCm39)	missense	probably damaging	1.00
R6783:Prpf40b	UTSW	15	99,212,784 (GRCm39)	missense	probably damaging	1.00
R7025:Prpf40b	UTSW	15	99,204,281 (GRCm39)	nonsense	probably null
R7733:Prpf40b	UTSW	15	99,206,224 (GRCm39)	critical splice donor site	probably null
R8133:Prpf40b	UTSW	15	99,202,319 (GRCm39)	missense	unknown
R8193:Prpf40b	UTSW	15	99,201,949 (GRCm39)	missense	unknown
R8248:Prpf40b	UTSW	15	99,214,166 (GRCm39)	missense	unknown
R8669:Prpf40b	UTSW	15	99,201,228 (GRCm39)	start codon destroyed	probably null
R8670:Prpf40b	UTSW	15	99,207,621 (GRCm39)	missense	probably damaging	0.96
R9191:Prpf40b	UTSW	15	99,202,064 (GRCm39)	missense	probably null
X0019:Prpf40b	UTSW	15	99,205,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTAGGTTCTTAGGAAGTCCAC -3'
(R):5'- CAAACTTACCCTGCAGACTCTTG -3'

Sequencing Primer
(F):5'- CCAGGTGGCAACTAAAGACTATTGTC -3'
(R):5'- CCTGCAGACTCTTGTTTGACGAG -3'

Posted On

2019-10-17