Mutagenetix > Incidental Mutations

Incidental Mutation 'R5244:Pnmal1'

401050

Institutional Source

Beutler Lab

Gene Symbol

Pnmal1

Ensembl Gene

ENSMUSG00000041141

Gene Name

PNMA-like 1

Synonyms

MMRRC Submission

042815-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16959679-16964607 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16961323 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 368 (S368G)

Ref Sequence

ENSEMBL: ENSMUSP00000040929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038163]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038163
AA Change: S368G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
AA Change: S368G

Domain	Start	End	E-Value	Type
Pfam:PNMA	5	364	6.9e-108	PFAM

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,411,798	G45W	probably damaging	Het
Abca13	C	T	11: 9,275,081	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,598,069	P485L	probably benign	Het
Bbof1	A	C	12: 84,430,073	E492A	possibly damaging	Het
Capn11	T	C	17: 45,633,892	E483G	probably damaging	Het
Cbs	C	T	17: 31,617,160	G438D	probably damaging	Het
Chil6	A	G	3: 106,389,974	Y284H	probably damaging	Het
Cops4	C	A	5: 100,533,375	Q131K	probably benign	Het
Cul4a	T	C	8: 13,146,566	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,925,199	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,233,858	L2382P	probably damaging	Het
Ehd3	A	T	17: 73,830,000	H388L	probably benign	Het
Fam13a	G	T	6: 58,953,474	Y484*	probably null	Het
Gm5117	A	G	8: 31,738,277		noncoding transcript	Het
Gulp1	G	A	1: 44,788,453	D260N	probably damaging	Het
Hhipl1	T	A	12: 108,312,134	N240K	probably damaging	Het
Hydin	A	T	8: 110,532,819	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,729,937	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,300,251	I21V	probably benign	Het
Kcnh1	A	T	1: 192,224,876	T79S	probably benign	Het
Kpna6	A	G	4: 129,655,428		probably null	Het
Lnpk	C	T	2: 74,531,888	G262D	probably damaging	Het
Lsm7	T	C	10: 80,853,073	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,484,637	C19*	probably null	Het
Mfsd6l	T	A	11: 68,557,175	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,245,662	V180I	probably benign	Het
Olfr1037	C	G	2: 86,084,956	A274P	probably damaging	Het
Olfr1285	T	A	2: 111,408,554		noncoding transcript	Het
Olfr213	T	A	6: 116,541,226	Y258N	probably damaging	Het
Olfr44	T	G	9: 39,484,512	H247P	probably damaging	Het
Olfr531	A	T	7: 140,400,138	C303S	probably benign	Het
Olfr694	T	A	7: 106,689,189	I181F	probably benign	Het
Olfr837	A	T	9: 19,137,851	N286I	probably damaging	Het
Pck1	T	A	2: 173,154,863	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,484,849	I209F	probably damaging	Het
Phc1	A	G	6: 122,321,979	S677P	probably damaging	Het
Pirb	G	A	7: 3,716,063	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887	S435T	probably benign	Het
Plscr2	C	G	9: 92,291,049	L215V	probably benign	Het
Polr2b	A	G	5: 77,343,000		probably benign	Het
Pthlh	T	C	6: 147,257,153	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,586,695	V1612A	possibly damaging	Het
Rprd2	T	A	3: 95,790,182	I85L	possibly damaging	Het
Slc27a2	T	C	2: 126,578,855	V422A	probably benign	Het
Slc29a1	T	C	17: 45,588,413		probably benign	Het
Slc36a4	A	T	9: 15,734,278	I334F	probably benign	Het
Slc4a10	T	A	2: 62,288,725	S761R	probably damaging	Het
Spa17	T	A	9: 37,611,989	M1L	probably damaging	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Stk19	A	G	17: 34,832,070	L72P	probably damaging	Het
Trhde	T	C	10: 114,801,081	M74V	probably benign	Het
Trim37	C	T	11: 87,218,257	H937Y	probably benign	Het
Ttc7b	A	G	12: 100,348,010	L46P	probably damaging	Het
Ttll4	T	C	1: 74,696,448	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,091,906	T207A	probably damaging	Het
Unc13c	C	T	9: 73,525,951		probably null	Het
Vmn1r221	T	C	13: 23,217,638		noncoding transcript	Het
Vmn2r101	T	C	17: 19,611,526	S595P	probably damaging	Het
Wnt10a	T	C	1: 74,803,295	L310P	probably damaging	Het
Yif1b	G	A	7: 29,244,441	A115T	probably damaging	Het
Zfp219	C	A	14: 52,008,542	R331L	possibly damaging	Het

Other mutations in Pnmal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4737:Pnmal1	UTSW	7	16961425	small insertion	probably benign
R0116:Pnmal1	UTSW	7	16960700	missense	probably damaging	0.97
R0140:Pnmal1	UTSW	7	16960222	start codon destroyed	probably null	0.00
R1109:Pnmal1	UTSW	7	16961467	nonsense	probably null
R1306:Pnmal1	UTSW	7	16962025	missense	probably benign	0.00
R1426:Pnmal1	UTSW	7	16960984	missense	possibly damaging	0.56
R2000:Pnmal1	UTSW	7	16961039	missense	probably benign	0.01
R2404:Pnmal1	UTSW	7	16960391	missense	probably damaging	1.00
R3415:Pnmal1	UTSW	7	16960954	missense	possibly damaging	0.74
R3708:Pnmal1	UTSW	7	16960225	missense	probably damaging	1.00
R4009:Pnmal1	UTSW	7	16961376	missense	probably damaging	1.00
R4105:Pnmal1	UTSW	7	16961179	missense	possibly damaging	0.81
R5126:Pnmal1	UTSW	7	16961317	missense	probably benign	0.03
R5825:Pnmal1	UTSW	7	16961095	missense	probably benign	0.01
R5931:Pnmal1	UTSW	7	16960884	missense	probably benign	0.31
R6128:Pnmal1	UTSW	7	16960736	missense	probably benign	0.00
R7337:Pnmal1	UTSW	7	16961390	missense	probably benign	0.35
R7756:Pnmal1	UTSW	7	16961299	missense	probably benign	0.27
R7758:Pnmal1	UTSW	7	16961299	missense	probably benign	0.27
RF007:Pnmal1	UTSW	7	16961424	small insertion	probably benign
RF009:Pnmal1	UTSW	7	16961427	small insertion	probably benign
RF020:Pnmal1	UTSW	7	16961451	small insertion	probably benign
RF022:Pnmal1	UTSW	7	16961427	small insertion	probably benign
RF029:Pnmal1	UTSW	7	16961444	nonsense	probably null
RF039:Pnmal1	UTSW	7	16961444	small insertion	probably benign
RF041:Pnmal1	UTSW	7	16961444	nonsense	probably null
RF046:Pnmal1	UTSW	7	16961423	small insertion	probably benign
RF047:Pnmal1	UTSW	7	16961423	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACCCTTTGTGAAGCAGGAAG -3'
(R):5'- CATTCACCTTTGGAGACTCGAGG -3'

Sequencing Primer
(F):5'- CCTTTGTGAAGCAGGAAGAGACAG -3'
(R):5'- AGACTCGAGGGAAGGCTCC -3'

Posted On

2016-07-06