Mutagenetix > Incidental Mutation

Incidental Mutation 'R8193:Prpf40b'

635315

Institutional Source

Beutler Lab

Gene Symbol

Prpf40b

Ensembl Gene

ENSMUSG00000023007

Gene Name

pre-mRNA processing factor 40B

Synonyms

2610317D23Rik

MMRRC Submission

067616-MU

Accession Numbers

Essential gene?

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

Stock #

R8193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99192968-99214899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99201949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 16 (F16I)

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

unknown
Transcript: ENSMUST00000023745
AA Change: F16I

SMART Domains

Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: F16I

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

unknown
Transcript: ENSMUST00000118287
AA Change: F16I

SMART Domains

Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: F16I

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

unknown
Transcript: ENSMUST00000128352
AA Change: F16I

SMART Domains

Protein: ENSMUSP00000119556
Gene: ENSMUSG00000023007
AA Change: F16I

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

unknown
Transcript: ENSMUST00000136980
AA Change: F10I

SMART Domains

Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: F10I

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

unknown
Transcript: ENSMUST00000140806
AA Change: F16I

SMART Domains

Protein: ENSMUSP00000121260
Gene: ENSMUSG00000023007
AA Change: F16I

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

unknown
Transcript: ENSMUST00000145482
AA Change: F16I

SMART Domains

Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: F16I

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: 99.5%
20x: 98.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,213,517 (GRCm39)	V48E	possibly damaging	Het
4930522H14Rik	A	G	4: 109,381,529 (GRCm39)	L83S	probably benign	Het
Abhd18	C	A	3: 40,884,660 (GRCm39)	T233K	probably benign	Het
Adam26a	A	T	8: 44,022,273 (GRCm39)	C406S	probably damaging	Het
Anp32e	G	A	3: 95,836,710 (GRCm39)		probably benign	Het
Cd33	C	T	7: 43,181,696 (GRCm39)	A155T	possibly damaging	Het
Cdc25c	A	T	18: 34,882,675 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,737,825 (GRCm39)	S2673P	probably benign	Het
Chodl	T	C	16: 78,738,412 (GRCm39)	S127P	probably damaging	Het
Clstn2	A	G	9: 97,465,683 (GRCm39)	S103P	probably damaging	Het
Crocc2	T	A	1: 93,117,888 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,622 (GRCm39)	L507P	probably damaging	Het
Dcbld2	T	A	16: 58,284,373 (GRCm39)		probably null	Het
Dnah14	T	C	1: 181,515,770 (GRCm39)	Y1991H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Edrf1	C	T	7: 133,263,606 (GRCm39)	T971I	possibly damaging	Het
Ermap	A	G	4: 119,041,140 (GRCm39)	I290T	possibly damaging	Het
Eva1a	A	T	6: 82,068,921 (GRCm39)	S83C	probably benign	Het
Fcgbp	A	T	7: 27,804,276 (GRCm39)	N1795Y	probably damaging	Het
Foxg1	A	G	12: 49,432,377 (GRCm39)	H370R	possibly damaging	Het
Gabra1	A	G	11: 42,037,968 (GRCm39)	Y217H	probably damaging	Het
Gm3086	A	G	12: 70,016,264 (GRCm39)	N62S	noncoding transcript	Het
Hmcn1	A	T	1: 150,453,228 (GRCm39)	Y5362*	probably null	Het
Igkv5-37	C	A	6: 69,940,796 (GRCm39)		probably benign	Het
Ints3	A	G	3: 90,307,929 (GRCm39)	V647A	possibly damaging	Het
Itga1	A	G	13: 115,104,991 (GRCm39)		probably null	Het
Limk2	T	C	11: 3,297,691 (GRCm39)	K481E	possibly damaging	Het
Lonp2	G	T	8: 87,358,091 (GRCm39)	G104V	probably damaging	Het
Lpar5	T	C	6: 125,058,302 (GRCm39)	S8P	probably benign	Het
Map2k7	T	C	8: 4,294,059 (GRCm39)	F202L	probably benign	Het
Mark1	T	G	1: 184,660,249 (GRCm39)	M136L	probably damaging	Het
Myo15b	T	C	11: 115,775,973 (GRCm39)	S590P	probably damaging	Het
Nbas	T	C	12: 13,483,010 (GRCm39)	V1429A	probably damaging	Het
Nbeal1	T	A	1: 60,292,640 (GRCm39)	Y1097*	probably null	Het
Ncf4	T	C	15: 78,146,466 (GRCm39)	S299P	probably damaging	Het
Nfkbiz	T	C	16: 55,642,214 (GRCm39)	D68G	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nrp1	G	T	8: 129,187,187 (GRCm39)	W411L	probably damaging	Het
Or10d1b	T	C	9: 39,613,498 (GRCm39)	D189G	possibly damaging	Het
Or4c105	T	A	2: 88,647,803 (GRCm39)	M96K	probably damaging	Het
Or5t18	T	G	2: 86,637,209 (GRCm39)	I45L	noncoding transcript	Het
Or8g2b	T	C	9: 39,750,757 (GRCm39)	I9T	probably benign	Het
Or9g4b	T	C	2: 85,616,305 (GRCm39)	V150A	probably benign	Het
Pcsk5	A	G	19: 17,563,415 (GRCm39)	V574A	possibly damaging	Het
Prex1	C	A	2: 166,435,780 (GRCm39)	R589L	possibly damaging	Het
Prl7d1	A	G	13: 27,893,230 (GRCm39)	V227A		Het
Rasa2	G	A	9: 96,484,791 (GRCm39)	P141L	probably damaging	Het
Rtl1	A	G	12: 109,558,650 (GRCm39)	V1063A	probably benign	Het
Sema4d	A	T	13: 51,859,192 (GRCm39)	C512*	probably null	Het
Slc19a2	A	G	1: 164,084,794 (GRCm39)	N228S	probably benign	Het
Tcf4	A	T	18: 69,633,994 (GRCm39)		probably benign	Het
Tnks2	T	C	19: 36,832,353 (GRCm39)	V264A	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp53	T	C	3: 122,741,012 (GRCm39)	E746G	probably benign	Het
Utp18	T	C	11: 93,766,903 (GRCm39)	D268G	probably damaging	Het
Vmn1r172	T	A	7: 23,359,752 (GRCm39)	Y212*	probably null	Het
Vmn2r100	T	A	17: 19,725,102 (GRCm39)	C10*	probably null	Het
Vmn2r113	G	T	17: 23,164,501 (GRCm39)	V135F	probably benign	Het
Vps54	T	C	11: 21,242,045 (GRCm39)	F387L	probably benign	Het
Xab2	A	C	8: 3,663,389 (GRCm39)	D450E	probably benign	Het
Zfp408	G	T	2: 91,475,361 (GRCm39)	R598S	probably benign	Het
Zfp788	T	A	7: 41,298,038 (GRCm39)	C225S	probably benign	Het
Zfp944	T	A	17: 22,558,861 (GRCm39)	K129*	probably null	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
R7544:Prpf40b	UTSW	15	99,203,899 (GRCm39)	missense	probably benign	0.01
R7733:Prpf40b	UTSW	15	99,206,224 (GRCm39)	critical splice donor site	probably null
R8133:Prpf40b	UTSW	15	99,202,319 (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'- CATTATGCCCGAGAACTCCTG -3'
(R):5'- AGGCATGCATCTAGCCCAAC -3'

Sequencing Primer
(F):5'- CGAGAACTCCTGCCTGTC -3'
(R):5'- TGCATCTAGCCCAACATTCC -3'

Posted On

2020-07-13