Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02023:Pnma8b'

184061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnma8b

Ensembl Gene

ENSMUSG00000070802

Gene Name

PNMA family member 8B

Synonyms

Pnmal2, EG434128

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02023

Quality Score

Status

Chromosome

Chromosomal Location

16678607-16682753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16679616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 200 (V200A)

Ref Sequence

ENSEMBL: ENSMUSP00000092401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094807]

AlphaFold

G3X9N3

Predicted Effect

probably damaging
Transcript: ENSMUST00000094807
AA Change: V200A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: V200A

Domain	Start	End	E-Value	Type
Pfam:PNMA	1	152	4.1e-36	PFAM
low complexity region	172	196	N/A	INTRINSIC
internal_repeat_1	239	296	1.86e-6	PROSPERO
SCOP:d1qbkb_	309	331	2e-3	SMART
internal_repeat_1	343	402	1.86e-6	PROSPERO
low complexity region	445	454	N/A	INTRINSIC
low complexity region	466	475	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	518	551	N/A	INTRINSIC
low complexity region	571	596	N/A	INTRINSIC
low complexity region	612	636	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,953,942 (GRCm39)	K833E	probably benign	Het
Adam29	T	C	8: 56,325,519 (GRCm39)	I312V	probably benign	Het
Adcy8	T	A	15: 64,694,069 (GRCm39)	I403F	probably damaging	Het
Ahcyl1	A	T	3: 107,575,010 (GRCm39)	N444K	probably damaging	Het
Ang4	T	C	14: 52,001,511 (GRCm39)		probably benign	Het
Atf6b	T	C	17: 34,870,841 (GRCm39)	V401A	possibly damaging	Het
Atp7a	A	T	X: 105,138,588 (GRCm39)	I604F	probably damaging	Het
Cd151	T	C	7: 141,050,370 (GRCm39)	Y202H	probably damaging	Het
Cd99l2	A	T	X: 70,493,552 (GRCm39)	N64K	possibly damaging	Het
Cog7	C	T	7: 121,543,000 (GRCm39)		probably null	Het
Decr2	A	T	17: 26,306,354 (GRCm39)	M94K	probably benign	Het
Dock11	A	T	X: 35,232,422 (GRCm39)	H188L	probably benign	Het
Dscam	T	C	16: 96,602,397 (GRCm39)	S682G	probably benign	Het
Efcab3	A	T	11: 104,612,258 (GRCm39)		probably benign	Het
Gja3	G	T	14: 57,273,136 (GRCm39)	P412Q	probably damaging	Het
Glrb	T	C	3: 80,758,262 (GRCm39)	N333D	probably benign	Het
Gpr65	T	A	12: 98,242,127 (GRCm39)	V260D	probably benign	Het
Hormad1	A	G	3: 95,485,604 (GRCm39)	E264G	possibly damaging	Het
Hsph1	T	C	5: 149,557,324 (GRCm39)	R46G	probably damaging	Het
Hycc2	G	A	1: 58,569,274 (GRCm39)	A435V	possibly damaging	Het
Iars1	A	G	13: 49,841,725 (GRCm39)	Y71C	probably damaging	Het
Lsg1	T	C	16: 30,404,494 (GRCm39)	H35R	probably damaging	Het
Mfge8	C	T	7: 78,794,985 (GRCm39)		probably benign	Het
Mgat4c	T	A	10: 102,214,045 (GRCm39)	Y9*	probably null	Het
Mpdz	A	T	4: 81,247,766 (GRCm39)	I1074N	probably damaging	Het
Muc19	T	C	15: 91,772,453 (GRCm39)		noncoding transcript	Het
Nbea	A	T	3: 55,588,437 (GRCm39)	M2434K	probably damaging	Het
Ncoa2	A	G	1: 13,245,078 (GRCm39)	L540P	probably damaging	Het
Nhsl2	A	G	X: 101,121,858 (GRCm39)	R554G	probably damaging	Het
Npdc1	T	A	2: 25,298,032 (GRCm39)		probably benign	Het
Or2aj6	A	T	16: 19,443,158 (GRCm39)	S231T	probably benign	Het
Osbpl10	T	A	9: 115,055,790 (GRCm39)	V654D	probably damaging	Het
Plxna1	C	A	6: 89,334,314 (GRCm39)	G105V	possibly damaging	Het
Ppard	A	G	17: 28,517,871 (GRCm39)	H313R	probably benign	Het
Rasgrp4	T	C	7: 28,838,335 (GRCm39)	L103P	probably damaging	Het
Rigi	A	G	4: 40,216,487 (GRCm39)	Y504H	possibly damaging	Het
Ripk4	A	T	16: 97,556,431 (GRCm39)	L104Q	probably damaging	Het
Setd2	T	C	9: 110,423,704 (GRCm39)	V2253A	probably benign	Het
Setdb2	A	G	14: 59,668,607 (GRCm39)	S43P	probably damaging	Het
Stab2	C	A	10: 86,707,695 (GRCm39)	G1742V	possibly damaging	Het
Timm23	A	G	14: 31,915,804 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,615,999 (GRCm39)	N14902S	possibly damaging	Het
Ush2a	A	G	1: 188,465,711 (GRCm39)	T2760A	probably benign	Het
Vmn2r25	T	C	6: 123,816,388 (GRCm39)	N398D	probably damaging	Het

Other mutations in Pnma8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Pnma8b	APN	7	16,679,088 (GRCm39)	missense	unknown
FR4737:Pnma8b	UTSW	7	16,679,931 (GRCm39)	small deletion	probably benign
R0085:Pnma8b	UTSW	7	16,679,474 (GRCm39)	missense	unknown
R2069:Pnma8b	UTSW	7	16,679,714 (GRCm39)	missense	probably damaging	0.99
R2151:Pnma8b	UTSW	7	16,679,837 (GRCm39)	missense	probably benign	0.00
R2321:Pnma8b	UTSW	7	16,679,490 (GRCm39)	missense	unknown
R2929:Pnma8b	UTSW	7	16,680,617 (GRCm39)	missense	possibly damaging	0.93
R3738:Pnma8b	UTSW	7	16,680,521 (GRCm39)	missense	probably benign	0.00
R3739:Pnma8b	UTSW	7	16,680,521 (GRCm39)	missense	probably benign	0.00
R5185:Pnma8b	UTSW	7	16,679,901 (GRCm39)	missense	probably damaging	1.00
R5259:Pnma8b	UTSW	7	16,679,199 (GRCm39)	missense	unknown
R5908:Pnma8b	UTSW	7	16,680,968 (GRCm39)	missense	unknown
R5943:Pnma8b	UTSW	7	16,680,362 (GRCm39)	missense	probably benign	0.25
R6101:Pnma8b	UTSW	7	16,680,493 (GRCm39)	missense	probably benign	0.20
R6260:Pnma8b	UTSW	7	16,680,158 (GRCm39)	missense	probably benign	0.03
R6583:Pnma8b	UTSW	7	16,679,844 (GRCm39)	missense	probably damaging	0.97
R7007:Pnma8b	UTSW	7	16,680,181 (GRCm39)	missense	possibly damaging	0.68
R7497:Pnma8b	UTSW	7	16,678,874 (GRCm39)	start gained	probably benign
R8231:Pnma8b	UTSW	7	16,680,515 (GRCm39)	missense	probably benign	0.01
R8278:Pnma8b	UTSW	7	16,680,263 (GRCm39)	missense	probably damaging	0.99
R8685:Pnma8b	UTSW	7	16,679,965 (GRCm39)	missense	unknown
R9211:Pnma8b	UTSW	7	16,679,589 (GRCm39)	missense	unknown
R9236:Pnma8b	UTSW	7	16,679,964 (GRCm39)	missense	unknown
R9245:Pnma8b	UTSW	7	16,680,843 (GRCm39)	missense	probably benign	0.19
R9267:Pnma8b	UTSW	7	16,679,159 (GRCm39)	missense	unknown
RF003:Pnma8b	UTSW	7	16,679,941 (GRCm39)	small insertion	probably benign
Z1176:Pnma8b	UTSW	7	16,680,735 (GRCm39)	missense	possibly damaging	0.93
Z1177:Pnma8b	UTSW	7	16,680,893 (GRCm39)	missense	unknown

Posted On

2014-05-07