Mutagenetix > Incidental Mutation

Incidental Mutation 'R0085:Pnma8b'

19853

Institutional Source

Beutler Lab

Gene Symbol

Pnma8b

Ensembl Gene

ENSMUSG00000070802

Gene Name

PNMA family member 8B

Synonyms

Pnmal2, EG434128

MMRRC Submission

038372-MU

Accession Numbers

Essential gene?

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

Stock #

R0085 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

16678607-16682753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16679474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 153 (S153C)

Ref Sequence

ENSEMBL: ENSMUSP00000092401 (fasta)

Gene Model

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

AlphaFold

G3X9N3

Predicted Effect

unknown
Transcript: ENSMUST00000094807
AA Change: S153C

SMART Domains

Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: S153C

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

95% (71/75)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,742,357 (GRCm39)	I417T	possibly damaging	Het
Adcy9	T	C	16: 4,106,088 (GRCm39)	T1009A	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Baat	T	C	4: 49,490,425 (GRCm39)		probably benign	Het
Bpi	T	A	2: 158,115,072 (GRCm39)	L311*	probably null	Het
Brd2	A	C	17: 34,332,233 (GRCm39)	F294L	probably damaging	Het
Carmil1	T	A	13: 24,209,850 (GRCm39)	E804D	probably benign	Het
Cd209g	A	T	8: 4,184,785 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,668,635 (GRCm39)	I554V	probably benign	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Dst	T	C	1: 34,268,268 (GRCm39)	S2897P	probably damaging	Het
Efcab7	T	C	4: 99,761,877 (GRCm39)		probably benign	Het
Fbxo2	T	C	4: 148,249,367 (GRCm39)		probably null	Het
Fgfr2	C	A	7: 129,797,993 (GRCm39)	R400L	probably damaging	Het
Hsd17b14	T	C	7: 45,205,834 (GRCm39)		probably benign	Het
Il23r	T	C	6: 67,463,206 (GRCm39)	N96D	probably damaging	Het
Ints13	T	A	6: 146,476,285 (GRCm39)		probably benign	Het
Khdc4	T	A	3: 88,619,046 (GRCm39)	S583R	probably damaging	Het
Lig1	A	G	7: 13,041,495 (GRCm39)	I776V	possibly damaging	Het
Madd	T	C	2: 90,993,083 (GRCm39)	I997V	probably benign	Het
Mgat4b	C	T	11: 50,121,826 (GRCm39)	H116Y	possibly damaging	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo5b	A	C	18: 74,834,751 (GRCm39)	D937A	probably benign	Het
Nox3	T	C	17: 3,685,556 (GRCm39)	N584S	probably benign	Het
Ogfr	A	G	2: 180,232,830 (GRCm39)		probably null	Het
Or11g25	T	A	14: 50,723,791 (GRCm39)	M292K	probably benign	Het
Or13p3	T	C	4: 118,567,078 (GRCm39)	V158A	probably benign	Het
Or8b1b	T	C	9: 38,375,958 (GRCm39)	I207T	probably benign	Het
Osbpl6	G	T	2: 76,423,758 (GRCm39)	V728F	probably benign	Het
Picalm	T	A	7: 89,831,525 (GRCm39)	S453T	probably benign	Het
Piezo1	A	G	8: 123,228,354 (GRCm39)	L310P	probably damaging	Het
Pitrm1	C	T	13: 6,599,604 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,805,197 (GRCm39)	F3250L	probably damaging	Het
Plekha4	C	T	7: 45,193,373 (GRCm39)	R376*	probably null	Het
Rp1l1	C	T	14: 64,259,744 (GRCm39)	R129W	probably damaging	Het
Ryr3	A	G	2: 112,690,108 (GRCm39)	V1147A	probably damaging	Het
Sema3d	G	A	5: 12,620,953 (GRCm39)	V520I	probably benign	Het
Sgsm1	A	G	5: 113,427,136 (GRCm39)		probably benign	Het
Slc13a2	A	G	11: 78,297,694 (GRCm39)	V58A	probably damaging	Het
Slc1a4	A	G	11: 20,254,510 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,074,690 (GRCm39)		probably benign	Het
Tab1	G	T	15: 80,040,094 (GRCm39)	A305S	probably benign	Het
Tmem30a	T	A	9: 79,678,576 (GRCm39)	T327S	probably benign	Het
Tpr	A	C	1: 150,293,164 (GRCm39)	E863A	possibly damaging	Het
Upk3bl	A	G	5: 136,088,969 (GRCm39)	N161D	probably benign	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Wdfy4	C	A	14: 32,800,200 (GRCm39)	R1975S	possibly damaging	Het
Zbtb18	C	T	1: 177,275,501 (GRCm39)	A287V	probably benign	Het
Zfp712	T	C	13: 67,189,256 (GRCm39)	T424A	probably benign	Het
Zfp791	G	T	8: 85,838,862 (GRCm39)	Y56*	probably null	Het

Other mutations in Pnma8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Pnma8b	APN	7	16,679,088 (GRCm39)	missense	unknown
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
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

Predicted Primers

PCR Primer
(F):5'- AGAATTTGGGGCAGACTTCGATCAC -3'
(R):5'- ATCTCCTCTATGACGATACCCAGGC -3'

Sequencing Primer
(F):5'- CATACCTATCCACATTAGGGGAGAG -3'
(R):5'- GGCTGTCATCAGAAGAGTCTTCC -3'

Posted On

2013-04-11