Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01138:Pnma8b'

51640

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 #

IGL01138

Quality Score

Status

Chromosome

Chromosomal Location

16678607-16682753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16679088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 24 (T24K)

Ref Sequence

ENSEMBL: ENSMUSP00000092401 (fasta)

Gene Model

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

AlphaFold

G3X9N3

Predicted Effect

unknown
Transcript: ENSMUST00000094807
AA Change: T24K

SMART Domains

Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: T24K

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 61,002,673 (GRCm39)	V27A	probably benign	Het
Abcg5	T	A	17: 84,972,275 (GRCm39)	R499S	possibly damaging	Het
Adamts13	T	C	2: 26,873,054 (GRCm39)	S341P	probably damaging	Het
Adgrg1	T	A	8: 95,730,085 (GRCm39)	C96S	probably damaging	Het
Arhgap44	A	G	11: 64,932,275 (GRCm39)	F215S	probably damaging	Het
Arhgef25	A	G	10: 127,020,039 (GRCm39)	F400L	probably damaging	Het
Baz1a	T	C	12: 54,977,110 (GRCm39)	E384G	probably damaging	Het
Col12a1	T	C	9: 79,585,335 (GRCm39)	D1314G	probably damaging	Het
Col6a3	T	A	1: 90,735,232 (GRCm39)	I806F	probably damaging	Het
Coro1c	G	A	5: 113,990,222 (GRCm39)		probably benign	Het
Dnmt3b	A	T	2: 153,503,361 (GRCm39)	D4V	probably benign	Het
Ermn	G	T	2: 57,942,707 (GRCm39)	L8M	possibly damaging	Het
F13b	T	A	1: 139,444,950 (GRCm39)	N533K	probably damaging	Het
Fam171a1	T	C	2: 3,203,657 (GRCm39)	V93A	possibly damaging	Het
Gpr107	T	A	2: 31,062,028 (GRCm39)	L152Q	probably benign	Het
Guca1a	C	A	17: 47,711,309 (GRCm39)	E12D	probably damaging	Het
Igtp	A	G	11: 58,096,970 (GRCm39)	N47S	possibly damaging	Het
Lratd2	T	A	15: 60,694,967 (GRCm39)	I260F	probably damaging	Het
Lrrc8e	A	G	8: 4,284,084 (GRCm39)	N103S	probably damaging	Het
Lsmem1	A	G	12: 40,230,698 (GRCm39)	L68P	probably damaging	Het
Maml3	A	G	3: 51,597,979 (GRCm39)	S902P	possibly damaging	Het
Mkln1	A	T	6: 31,409,925 (GRCm39)	N188Y	probably damaging	Het
Mlxip	C	T	5: 123,588,219 (GRCm39)	R771W	probably damaging	Het
Myf6	T	C	10: 107,330,259 (GRCm39)	R103G	probably damaging	Het
Ncam2	T	A	16: 81,314,467 (GRCm39)	I481K	probably damaging	Het
Nrap	T	A	19: 56,343,970 (GRCm39)	S645C	probably damaging	Het
Nup205	G	T	6: 35,185,019 (GRCm39)	E813*	probably null	Het
Or13c7c	A	G	4: 43,835,617 (GRCm39)	L291P	probably damaging	Het
Plekhg5	C	T	4: 152,191,435 (GRCm39)	R410W	probably damaging	Het
Polq	A	T	16: 36,866,231 (GRCm39)	Y476F	possibly damaging	Het
Prkd2	T	C	7: 16,582,736 (GRCm39)	S200P	probably damaging	Het
Rif1	C	A	2: 52,001,534 (GRCm39)	L1663I	probably damaging	Het
Serpina5	A	G	12: 104,070,003 (GRCm39)	Y300C	possibly damaging	Het
Shroom4	T	C	X: 6,497,257 (GRCm39)	S806P	probably damaging	Het
Sirpa	T	C	2: 129,472,085 (GRCm39)	V290A	probably damaging	Het
Slc25a47	C	T	12: 108,821,948 (GRCm39)	R246C	probably damaging	Het
Slc9a6	A	G	X: 55,668,791 (GRCm39)	D199G	probably damaging	Het
Smarca5	T	A	8: 81,427,705 (GRCm39)	K1048M	possibly damaging	Het
Sos2	C	T	12: 69,663,623 (GRCm39)		probably benign	Het
Trpm5	T	A	7: 142,628,306 (GRCm39)	M990L	probably benign	Het
Vmn2r99	A	T	17: 19,602,885 (GRCm39)	T547S	probably damaging	Het
Vps13b	T	C	15: 35,446,916 (GRCm39)		probably benign	Het
Zfp994	G	A	17: 22,421,649 (GRCm39)		probably benign	Het

Other mutations in Pnma8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Pnma8b	APN	7	16,679,616 (GRCm39)	missense	probably damaging	0.97
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

2013-06-21