Mutagenetix > Incidental Mutation

Incidental Mutation 'RF020:Pnma8a'

603804

Institutional Source

Beutler Lab

Gene Symbol

Pnma8a

Ensembl Gene

ENSMUSG00000041141

Gene Name

PNMA family member 8A

Synonyms

0710005I19Rik, Pnmal1, 4930488B01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

RF020 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

16693604-16698532 bp(+) (GRCm39)

Type of Mutation

small insertion (8 aa in frame mutation)

DNA Base Change (assembly)

C to CCATGATGCACCTGCTTCAACATCA at 16695376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040929 (fasta)

Gene Model

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

AlphaFold

Q80VM8

Predicted Effect

probably benign
Transcript: ENSMUST00000038163

SMART Domains

Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,880 (GRCm39)	K1270E	possibly damaging	Het
Adgrb2	T	C	4: 129,903,877 (GRCm39)	S668P	probably damaging	Het
Ahdc1	T	G	4: 132,791,588 (GRCm39)	L943R	possibly damaging	Het
Ank2	T	C	3: 126,739,125 (GRCm39)	K2253R	unknown	Het
Arhgap23	T	C	11: 97,354,387 (GRCm39)	S767P	probably damaging	Het
Arhgef12	A	G	9: 42,901,285 (GRCm39)	I839T	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 108,999,350 (GRCm39)		probably benign	Het
Btbd19	A	T	4: 116,979,472 (GRCm39)	C116S	probably damaging	Het
Cbr1	C	T	16: 93,407,067 (GRCm39)	A261V	probably benign	Het
Ccdc137	A	G	11: 120,349,022 (GRCm39)	R18G	probably benign	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,865,876 (GRCm39)		probably benign	Het
Celsr3	C	T	9: 108,726,256 (GRCm39)	R3162C	probably benign	Het
Cep350	A	T	1: 155,791,224 (GRCm39)	V1300E	probably benign	Het
Cluh	G	GCCAGAT	11: 74,560,364 (GRCm39)		probably benign	Het
Cmya5	G	T	13: 93,205,799 (GRCm39)	Q3357K	possibly damaging	Het
Col6a2	T	G	10: 76,442,043 (GRCm39)		probably null	Het
Cyp2j9	T	A	4: 96,465,889 (GRCm39)	T315S	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,892,525 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,095,040 (GRCm39)	Y2181F	probably benign	Het
Dnah7b	A	G	1: 46,412,421 (GRCm39)	D4010G	possibly damaging	Het
E4f1	CCG	CCGACG	17: 24,674,169 (GRCm39)		probably benign	Het
Ep300	A	T	15: 81,470,772 (GRCm39)		probably benign	Het
Fam234a	A	G	17: 26,437,725 (GRCm39)	V90A	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,623 (GRCm39)		probably benign	Het
Gal3st1	A	G	11: 3,948,153 (GRCm39)	Y120C	possibly damaging	Het
Garin5a	GGA	GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA	7: 44,149,959 (GRCm39)		probably null	Het
Gm5475	GTGGAAGGAAAGGT	G	15: 100,325,030 (GRCm39)		probably null	Het
Gm6665	T	TC	18: 31,953,430 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,368,456 (GRCm39)	T8A	probably benign	Het
Hnrnpa2b1	T	A	6: 51,443,674 (GRCm39)	K92N	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Klhl10	C	G	11: 100,332,896 (GRCm39)	Q14E	probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,198,801 (GRCm39)		probably null	Het
Kmt2b	CC	CCTCCTGC	7: 30,285,807 (GRCm39)		probably benign	Het
Krt1c	A	G	15: 101,726,403 (GRCm39)	I45T	unknown	Het
Ksr2	T	C	5: 117,693,283 (GRCm39)	S244P	probably benign	Het
Lama5	A	T	2: 179,837,971 (GRCm39)	M915K	probably benign	Het
Lrp1b	A	C	2: 41,660,858 (GRCm39)	H197Q		Het
Lrrc1	T	C	9: 77,359,913 (GRCm39)	E293G	probably damaging	Het
Med12l	AACA	AACAACA	3: 59,183,379 (GRCm39)		probably benign	Het
Mgam	T	A	6: 40,662,243 (GRCm39)	Y1179N	probably damaging	Het
Mgat4c	A	G	10: 102,224,928 (GRCm39)	I381V	probably benign	Het
Mrgprx1	A	AGAC	7: 47,671,259 (GRCm39)		probably benign	Het
Myc	A	T	15: 61,857,672 (GRCm39)		probably benign	Het
Nipbl	A	G	15: 8,388,418 (GRCm39)	S401P	probably damaging	Het
Nlrp9c	A	T	7: 26,084,649 (GRCm39)	I310N	probably benign	Het
Nwd2	C	A	5: 63,963,066 (GRCm39)	Y883*	probably null	Het
Oas1e	T	A	5: 120,932,383 (GRCm39)	T87S	possibly damaging	Het
Or10n7-ps1	GA	GATACA	9: 39,598,049 (GRCm39)		probably null	Het
Or51a5	A	T	7: 102,771,098 (GRCm39)	C294S	probably benign	Het
Or52d3	A	G	7: 104,229,497 (GRCm39)	M215V	probably benign	Het
Or8b38	G	A	9: 37,972,620 (GRCm39)	M1I	probably null	Het
Pappa	T	G	4: 65,123,282 (GRCm39)	S872R	possibly damaging	Het
Parp4	T	C	14: 56,884,806 (GRCm39)	L1295P	unknown	Het
Pcdh15	A	T	10: 74,021,242 (GRCm39)	Y152F	probably damaging	Het
Pdk1	A	T	2: 71,714,240 (GRCm39)	I217L	possibly damaging	Het
Phldb1	A	C	9: 44,609,243 (GRCm39)	C450W	probably damaging	Het
Prl2c5	G	A	13: 13,360,497 (GRCm39)	G55S	probably benign	Het
Psme2b	A	T	11: 48,836,397 (GRCm39)	H183Q	probably damaging	Het
Ptms	CCTCCTC	CCTCCTCCTC	6: 124,891,412 (GRCm39)		probably benign	Het
Rln3	T	C	8: 84,769,931 (GRCm39)	T73A	probably benign	Het
Rprd1a	T	A	18: 24,663,062 (GRCm39)	Q21L	probably damaging	Het
Septin3	A	T	15: 82,168,662 (GRCm39)	D155V	probably damaging	Het
Sh3rf3	T	A	10: 58,649,590 (GRCm39)	V65E	probably damaging	Het
Shank3	A	G	15: 89,384,593 (GRCm39)	N155S	probably benign	Het
Shox2	G	T	3: 66,881,146 (GRCm39)	P278Q	probably damaging	Het
Slc1a1	T	C	19: 28,856,555 (GRCm39)		probably null	Het
Slc39a10	A	T	1: 46,849,175 (GRCm39)	F814I	probably damaging	Het
Slc5a1	T	C	5: 33,290,773 (GRCm39)	I119T	probably damaging	Het
Slc6a13	T	C	6: 121,301,310 (GRCm39)		probably null	Het
Spmap2l	CAGCGATCCTCCCCAGTCCCGCAAGGC	CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC	5: 77,164,247 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,041,010 (GRCm39)	D1270G	probably benign	Het
Spta1	T	A	1: 174,045,469 (GRCm39)	F1542L	probably damaging	Het
Tacc3	T	A	5: 33,818,568 (GRCm39)	M1K	probably null	Het
Tax1bp1	T	C	6: 52,698,339 (GRCm39)	V17A	probably damaging	Het
Tmem156	T	A	5: 65,248,890 (GRCm39)	E3D	probably benign	Het
Tmem209	T	A	6: 30,487,417 (GRCm39)	M530L	probably benign	Het
Trpc2	A	G	7: 101,745,433 (GRCm39)	D883G	unknown	Het
Tsen34	GGAGCCAAAAT	G	7: 3,698,795 (GRCm39)		probably null	Het
Uhrf2	T	C	19: 30,063,791 (GRCm39)	Y585H	probably damaging	Het
Vmn1r26	T	A	6: 57,985,705 (GRCm39)	K161N	probably benign	Het
Vmn1r29	A	G	6: 58,284,528 (GRCm39)	S83G	probably benign	Het
Vps13b	G	T	15: 35,925,552 (GRCm39)	W3829L	probably null	Het
Vwce	G	A	19: 10,630,449 (GRCm39)	G503R	probably damaging	Het
Zc3h11a	T	C	1: 133,554,735 (GRCm39)	E415G	possibly damaging	Het
Zc3h14	T	A	12: 98,746,541 (GRCm39)		probably null	Het
Zfp119b	A	T	17: 56,246,499 (GRCm39)	M229K	probably benign	Het
Zfp384	CCAAGCTCAAGC	CCAAGC	6: 125,013,418 (GRCm39)		probably benign	Het
Zfp384	GGCCCAGGC	GGCCCAGGCCCACGCCCAGGC	6: 125,013,451 (GRCm39)		probably benign	Het
Zyx	T	A	6: 42,334,330 (GRCm39)	L518Q	probably damaging	Het

Other mutations in Pnma8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4737:Pnma8a	UTSW	7	16,695,350 (GRCm39)	small insertion	probably benign
R0116:Pnma8a	UTSW	7	16,694,625 (GRCm39)	missense	probably damaging	0.97
R0140:Pnma8a	UTSW	7	16,694,147 (GRCm39)	start codon destroyed	probably null	0.00
R1109:Pnma8a	UTSW	7	16,695,392 (GRCm39)	nonsense	probably null
R1306:Pnma8a	UTSW	7	16,695,950 (GRCm39)	missense	probably benign	0.00
R1426:Pnma8a	UTSW	7	16,694,909 (GRCm39)	missense	possibly damaging	0.56
R2000:Pnma8a	UTSW	7	16,694,964 (GRCm39)	missense	probably benign	0.01
R2404:Pnma8a	UTSW	7	16,694,316 (GRCm39)	missense	probably damaging	1.00
R3415:Pnma8a	UTSW	7	16,694,879 (GRCm39)	missense	possibly damaging	0.74
R3708:Pnma8a	UTSW	7	16,694,150 (GRCm39)	missense	probably damaging	1.00
R4009:Pnma8a	UTSW	7	16,695,301 (GRCm39)	missense	probably damaging	1.00
R4105:Pnma8a	UTSW	7	16,695,104 (GRCm39)	missense	possibly damaging	0.81
R5126:Pnma8a	UTSW	7	16,695,242 (GRCm39)	missense	probably benign	0.03
R5244:Pnma8a	UTSW	7	16,695,248 (GRCm39)	missense	probably damaging	0.99
R5825:Pnma8a	UTSW	7	16,695,020 (GRCm39)	missense	probably benign	0.01
R5931:Pnma8a	UTSW	7	16,694,809 (GRCm39)	missense	probably benign	0.31
R6128:Pnma8a	UTSW	7	16,694,661 (GRCm39)	missense	probably benign	0.00
R7337:Pnma8a	UTSW	7	16,695,315 (GRCm39)	missense	probably benign	0.35
R7756:Pnma8a	UTSW	7	16,695,224 (GRCm39)	missense	probably benign	0.27
R7758:Pnma8a	UTSW	7	16,695,224 (GRCm39)	missense	probably benign	0.27
R8687:Pnma8a	UTSW	7	16,694,520 (GRCm39)	missense	probably damaging	0.99
R8854:Pnma8a	UTSW	7	16,695,104 (GRCm39)	missense	possibly damaging	0.81
RF007:Pnma8a	UTSW	7	16,695,349 (GRCm39)	small insertion	probably benign
RF009:Pnma8a	UTSW	7	16,695,352 (GRCm39)	small insertion	probably benign
RF022:Pnma8a	UTSW	7	16,695,352 (GRCm39)	small insertion	probably benign
RF029:Pnma8a	UTSW	7	16,695,369 (GRCm39)	nonsense	probably null
RF039:Pnma8a	UTSW	7	16,695,369 (GRCm39)	small insertion	probably benign
RF041:Pnma8a	UTSW	7	16,695,369 (GRCm39)	nonsense	probably null
RF046:Pnma8a	UTSW	7	16,695,348 (GRCm39)	small insertion	probably benign
RF047:Pnma8a	UTSW	7	16,695,348 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGATCAAGATGGTGGACCG -3'
(R):5'- TAATCCTCACCTGGGAGGGTAG -3'

Sequencing Primer
(F):5'- TGACCTGGGCCTCTAACAAG -3'
(R):5'- CCCAATATCCTGAGGTCCT -3'

Posted On

2019-12-04