Mutagenetix > Incidental Mutations

Incidental Mutation 'R7756:Pnmal1'

597550

Institutional Source

Beutler Lab

Gene Symbol

Pnmal1

Ensembl Gene

ENSMUSG00000041141

Gene Name

PNMA-like 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7756 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16959679-16964607 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16961299 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 360 (T360S)

Ref Sequence

ENSEMBL: ENSMUSP00000040929 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038163
AA Change: T360S

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
AA Change: T360S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	A	G	1: 136,216,433	S422P	probably benign	Het
Ankrd60	T	C	2: 173,568,769	*319W	probably null	Het
Brd4	A	G	17: 32,198,982	I1157T	unknown	Het
Btbd2	T	C	10: 80,648,606	I159V	probably benign	Het
Card6	G	A	15: 5,099,896	Q673*	probably null	Het
Cdyl	T	A	13: 35,872,641	Y585N	probably damaging	Het
Cep192	A	C	18: 67,856,313	I1844L	possibly damaging	Het
Cfap99	G	T	5: 34,302,608	C105F	probably damaging	Het
Clcn6	T	C	4: 148,029,439	D54G	probably damaging	Het
Dennd5a	T	C	7: 109,921,507	N381S	possibly damaging	Het
Disp1	A	C	1: 183,089,734	V374G	probably damaging	Het
Dock4	C	T	12: 40,710,879	T522I	probably benign	Het
Fcer1a	A	G	1: 173,221,575	L223P	probably damaging	Het
Fstl4	C	A	11: 53,168,296	D527E	possibly damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm5460	A	T	14: 34,035,157	T64S	probably benign	Het
Gys1	T	C	7: 45,448,302	V491A	probably benign	Het
Hoxa9	A	T	6: 52,225,562	N181K	probably benign	Het
Ift81	A	T	5: 122,551,025	L676H	probably damaging	Het
Impad1	A	T	4: 4,769,385	H243Q	probably damaging	Het
Itga1	T	A	13: 114,992,460	D554V	probably benign	Het
Lin7c	T	A	2: 109,896,372	I122K	probably damaging	Het
Malt1	A	G	18: 65,473,119	I622V	probably benign	Het
Megf8	T	C	7: 25,342,425		probably null	Het
Morc2b	A	G	17: 33,137,007	V597A	probably damaging	Het
Nr1h5	T	C	3: 102,949,609	I196V	probably benign	Het
Olfr229	T	G	9: 39,910,325	I174S	possibly damaging	Het
Olfr434	T	A	6: 43,217,016	Y34*	probably null	Het
Olfr963	T	C	9: 39,669,075	M6T	probably benign	Het
Pdlim1	G	A	19: 40,243,542	P131S	probably benign	Het
Plekhh1	T	C	12: 79,070,804	I858T	probably benign	Het
Pls1	T	C	9: 95,776,844	N197S	probably benign	Het
Pon1	A	T	6: 5,168,344	D354E	probably benign	Het
Rbp3	G	A	14: 33,954,775	V227M	probably benign	Het
Shcbp1	T	C	8: 4,744,545	K416R	probably damaging	Het
Slc20a2	T	G	8: 22,535,492	I70S	probably damaging	Het
Slc7a11	A	G	3: 50,372,360	I484T	probably benign	Het
Snrpa	A	G	7: 27,192,946	V63A	possibly damaging	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,290,728		probably benign	Het
Strc	T	C	2: 121,370,946	E1259G	probably benign	Het
Suds3	T	G	5: 117,115,737	D26A	unknown	Het
Tnrc18	A	G	5: 142,787,152	S641P		Het
Tspan32	A	G	7: 143,017,222	N189D	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Usp40	G	T	1: 87,967,200	T866K	probably damaging	Het
Vmn1r220	G	A	13: 23,183,707	T273I	probably benign	Het
Yes1	C	T	5: 32,684,680	T516I	probably damaging	Het
Zbtb4	A	G	11: 69,778,542	E697G	probably benign	Het
Zfp994	T	C	17: 22,200,847	T374A	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
R5244:Pnmal1	UTSW	7	16961323	missense	probably damaging	0.99
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
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'- CCTTTGTGAAGCAGGAAGAGAC -3'
(R):5'- GTGCATTCACCTTTGGAGAC -3'

Sequencing Primer
(F):5'- TTTGTGAAGCAGGAAGAGACAGTATG -3'
(R):5'- CATTCACCTTTGGAGACTCGAGG -3'

Posted On

2019-11-26