Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4508001:Pom121l12'

556233

Institutional Source

Beutler Lab

Gene Symbol

Pom121l12

Ensembl Gene

ENSMUSG00000084135

Gene Name

POM121 membrane glycoprotein-like 12

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

PIT4508001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14599276-14600314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14599689 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 132 (R132G)

Ref Sequence

ENSEMBL: ENSMUSP00000147960 (fasta)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117584
AA Change: R132G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 93.4%
3x: 90.7%
10x: 84.6%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,357,378	T1228A	probably damaging	Het
Actg2	A	T	6: 83,513,007	I370N	possibly damaging	Het
Ankrd36	A	G	11: 5,607,137	T330A	possibly damaging	Het
Atrip	C	T	9: 109,073,989	A6T	possibly damaging	Het
Bms1	G	A	6: 118,383,806	R1234C	probably benign	Het
Cacnb2	A	T	2: 14,984,419	T487S	probably benign	Het
Col4a3bp	T	C	13: 96,630,776	F478S	probably damaging	Het
Esco2	A	T	14: 65,831,465	V132E	probably damaging	Het
Gjb5	A	T	4: 127,356,240	L37Q	probably damaging	Het
Gm8020	T	A	14: 42,502,277	Y24F		Het
H2-Q6	T	C	17: 35,425,820	L195P	probably damaging	Het
Hc	T	C	2: 34,984,804	T1602A	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hist1h2bg	CTCGACCATCACGTC	CTC	13: 23,571,693		probably benign	Het
Itga3	T	C	11: 95,055,893	H730R	probably benign	Het
Kif1a	A	T	1: 93,046,729	L866Q	probably damaging	Het
Krt81	A	T	15: 101,462,725	L127Q	probably damaging	Het
Mdn1	T	C	4: 32,719,223	I2262T	probably damaging	Het
Mxd3	A	T	13: 55,325,894	D170E	probably benign	Het
Myh2	A	G	11: 67,185,505	M811V	probably benign	Het
Naa16	A	T	14: 79,369,087	D335E	probably benign	Het
Nkd1	A	G	8: 88,522,400	T58A	probably benign	Het
Ogfrl1	T	A	1: 23,370,270	R292*	probably null	Het
Olfr1136	G	A	2: 87,693,715	H56Y	probably damaging	Het
Olfr589	T	A	7: 103,155,313	M145L	probably benign	Het
Prss46	A	G	9: 110,851,416	K210E	probably damaging	Het
Scn8a	T	C	15: 101,029,692	Y1351H	probably damaging	Het
Shisa9	G	A	16: 12,267,480	V318I	probably benign	Het
Slc41a2	T	G	10: 83,254,880	H480P	probably damaging	Het
Slc45a1	C	A	4: 150,638,435	A331S	probably benign	Het
Smg1	A	T	7: 118,185,541	F885I	unknown	Het
Speer4f1	T	C	5: 17,480,414	S236P	unknown	Het
Zfp326	A	T	5: 105,914,690	Q475L	probably benign	Het
Zzef1	T	G	11: 72,895,176	V2058G	probably benign	Het

Other mutations in Pom121l12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6391:Pom121l12	UTSW	11	14599489	missense	probably damaging	0.98
R7246:Pom121l12	UTSW	11	14599551	missense	probably benign	0.03
R7334:Pom121l12	UTSW	11	14599681	missense	probably damaging	1.00
R7374:Pom121l12	UTSW	11	14599962	missense	probably benign	0.00
R7732:Pom121l12	UTSW	11	14599843	missense	probably damaging	1.00
R8178:Pom121l12	UTSW	11	14600011	missense	probably damaging	1.00
R8383:Pom121l12	UTSW	11	14599353	missense	probably benign	0.01
R8531:Pom121l12	UTSW	11	14599932	missense	probably benign	0.26
Z1176:Pom121l12	UTSW	11	14599639	missense	probably damaging	0.98
Z1176:Pom121l12	UTSW	11	14599681	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGCCTGGGACACCTATATG -3'
(R):5'- GACATTGAAGCTCATGTAGTCG -3'

Sequencing Primer
(F):5'- TGCCTGGGACACCTATATGAAACG -3'
(R):5'- CTTTTGTTCAGAGGCCCAGGC -3'

Posted On

2019-06-07