Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01099:Prpf40a'

50502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

Fnbp3, FBP11, 2810012K09Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

53134704-53191284 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53141835 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 794 (H794L)

Ref Sequence

ENSEMBL: ENSMUSP00000147599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076313] [ENSMUST00000209364] [ENSMUST00000210789] [ENSMUST00000211712]

Predicted Effect

unknown
Transcript: ENSMUST00000076313
AA Change: H836L

SMART Domains

Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: H836L

Domain	Start	End	E-Value	Type
low complexity region	77	124	N/A	INTRINSIC
WW	141	173	7.54e-13	SMART
WW	182	214	1.57e-10	SMART
low complexity region	272	294	N/A	INTRINSIC
FF	389	443	1.32e-17	SMART
FF	456	515	4.22e1	SMART
FF	523	583	1.11e-10	SMART
FF	603	663	4.31e0	SMART
low complexity region	670	682	N/A	INTRINSIC
FF	739	795	7.43e-12	SMART
low complexity region	802	879	N/A	INTRINSIC
low complexity region	883	923	N/A	INTRINSIC
low complexity region	929	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133384

Predicted Effect

unknown
Transcript: ENSMUST00000209364
AA Change: H809L

Predicted Effect

probably benign
Transcript: ENSMUST00000210789
AA Change: H794L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000211712

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	A	T	13: 105,109,360	H143L	probably benign	Het
Abca8a	G	A	11: 110,074,205		probably benign	Het
Adam28	A	G	14: 68,637,329		probably null	Het
Adcy10	A	G	1: 165,539,842	I560M	probably benign	Het
Alpl	G	A	4: 137,743,313		probably benign	Het
Ank1	G	A	8: 23,108,249	G753D	probably damaging	Het
Arhgef28	A	T	13: 97,953,972		probably benign	Het
Bmp7	A	T	2: 172,875,262	C329S	probably damaging	Het
Capn13	T	C	17: 73,351,509	D188G	probably damaging	Het
Car10	G	A	11: 93,578,690	E164K	possibly damaging	Het
Cfhr1	T	A	1: 139,547,759		probably benign	Het
Col11a1	C	T	3: 114,112,041	R562*	probably null	Het
Colec12	C	T	18: 9,848,826	R335C	probably damaging	Het
Cyb561d2	C	T	9: 107,540,289		probably null	Het
D430042O09Rik	T	A	7: 125,865,320	H1286Q	probably damaging	Het
Epb41l3	A	G	17: 69,210,193	D72G	possibly damaging	Het
Etl4	T	C	2: 20,807,111	L1335P	probably benign	Het
F5	T	G	1: 164,194,334	N1459K	probably damaging	Het
Fam161a	T	C	11: 23,015,894		probably benign	Het
Flnc	G	A	6: 29,433,618	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,463,817	I607V	probably benign	Het
Fscb	A	G	12: 64,472,101	S864P	unknown	Het
Glod4	T	A	11: 76,239,550	K36*	probably null	Het
Gm6619	G	A	6: 131,490,430	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,039,725		probably benign	Het
Gyg	A	T	3: 20,151,047	M119K	probably benign	Het
Ifit2	A	T	19: 34,573,302	I81F	probably damaging	Het
Insr	T	C	8: 3,258,682	Y118C	probably damaging	Het
Kcnh3	T	C	15: 99,239,736	S771P	probably benign	Het
Kndc1	C	A	7: 139,920,784	H688Q	probably damaging	Het
Mybpc2	A	G	7: 44,516,167	C330R	probably damaging	Het
Naa50	A	T	16: 44,156,469	N23I	probably damaging	Het
Olfr544	T	A	7: 102,484,478	D214V	probably damaging	Het
Olfr76	A	G	19: 12,119,876	S279P	probably damaging	Het
Olfr894	T	C	9: 38,219,743	S307P	probably benign	Het
Olfr912	T	C	9: 38,582,077	S267P	probably benign	Het
Pfkp	A	T	13: 6,603,390		probably benign	Het
Phlda2	G	A	7: 143,502,139		probably null	Het
Plxnd1	C	A	6: 115,969,945	V823L	probably benign	Het
Ppil2	T	A	16: 17,091,212	M368L	probably damaging	Het
Ripor2	A	T	13: 24,701,207	H436L	probably benign	Het
Rnf138	T	A	18: 21,020,913	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,684,238	V1064D	probably damaging	Het
Slc12a2	T	A	18: 57,906,020	C557*	probably null	Het
Slc1a6	T	C	10: 78,788,997	S79P	possibly damaging	Het
Snapin	G	A	3: 90,490,602		probably benign	Het
Tdp1	A	T	12: 99,915,445		probably benign	Het
Tigar	G	T	6: 127,088,145	A180E	probably benign	Het
Trav6-2	A	T	14: 52,667,665	T48S	probably benign	Het
Ttn	A	G	2: 76,728,432	Y29702H	probably damaging	Het
Ush1c	A	G	7: 46,205,262	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,714,596	I132F	probably damaging	Het
Vmn1r85	T	A	7: 13,084,534	K228*	probably null	Het
Wdr33	C	A	18: 31,906,789		probably benign	Het
Ybx2	A	T	11: 69,940,730	Q136L	probably damaging	Het

Other mutations in Prpf40a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Prpf40a	APN	2	53150688	missense	probably benign	0.00
IGL00533:Prpf40a	APN	2	53145343	missense	probably damaging	1.00
IGL02039:Prpf40a	APN	2	53144803	missense	probably damaging	1.00
IGL02608:Prpf40a	APN	2	53146153	missense	probably damaging	0.97
I1329:Prpf40a	UTSW	2	53176395	missense	probably benign	0.01
R0284:Prpf40a	UTSW	2	53150647	missense	probably damaging	1.00
R0401:Prpf40a	UTSW	2	53159313	missense	probably damaging	0.99
R0544:Prpf40a	UTSW	2	53141651	unclassified	probably benign
R0582:Prpf40a	UTSW	2	53145692	missense	probably damaging	1.00
R1533:Prpf40a	UTSW	2	53145840	missense	probably damaging	1.00
R2057:Prpf40a	UTSW	2	53144839	missense	probably damaging	1.00
R4274:Prpf40a	UTSW	2	53146172	missense	probably damaging	1.00
R4604:Prpf40a	UTSW	2	53142023	missense	probably damaging	0.99
R4814:Prpf40a	UTSW	2	53190020	missense	probably damaging	1.00
R4976:Prpf40a	UTSW	2	53144849	missense	probably damaging	1.00
R5119:Prpf40a	UTSW	2	53144849	missense	probably damaging	1.00
R5378:Prpf40a	UTSW	2	53145876	missense	probably damaging	1.00
R5448:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5449:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5450:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5500:Prpf40a	UTSW	2	53145284	missense	probably benign	0.03
R5637:Prpf40a	UTSW	2	53156734	missense	possibly damaging	0.59
R6052:Prpf40a	UTSW	2	53159281	missense	probably benign	0.41
R6149:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6150:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6151:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6162:Prpf40a	UTSW	2	53159305	missense	probably benign	0.01
R6199:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6200:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6207:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6254:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6266:Prpf40a	UTSW	2	53156627	missense	probably benign	0.17
R6394:Prpf40a	UTSW	2	53144878	missense	probably damaging	1.00
R6603:Prpf40a	UTSW	2	53152963	missense	probably damaging	0.96
R6606:Prpf40a	UTSW	2	53151751	missense	probably damaging	0.99
R6641:Prpf40a	UTSW	2	53141626	unclassified	probably benign
R6929:Prpf40a	UTSW	2	53144863	missense	possibly damaging	0.95
R7158:Prpf40a	UTSW	2	53152553	missense	probably damaging	0.99
R7401:Prpf40a	UTSW	2	53156947	missense	probably benign	0.01
R7675:Prpf40a	UTSW	2	53145636	missense	possibly damaging	0.89
R7750:Prpf40a	UTSW	2	53151745	missense	probably damaging	1.00
X0060:Prpf40a	UTSW	2	53145664	missense	probably damaging	0.96

Posted On

2013-06-21