Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

PIT4508001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14549276-14550314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14549689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 132 (R132G)

Ref Sequence

ENSEMBL: ENSMUSP00000147960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117584]

AlphaFold

A0A1B0GSJ4

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: 20,176,128 (GRCm39)	T1228A	probably damaging	Het
Actg2	A	T	6: 83,489,989 (GRCm39)	I370N	possibly damaging	Het
Ankrd36	A	G	11: 5,557,137 (GRCm39)	T330A	possibly damaging	Het
Atrip	C	T	9: 108,903,057 (GRCm39)	A6T	possibly damaging	Het
Bms1	G	A	6: 118,360,767 (GRCm39)	R1234C	probably benign	Het
Cacnb2	A	T	2: 14,989,230 (GRCm39)	T487S	probably benign	Het
Cert1	T	C	13: 96,767,284 (GRCm39)	F478S	probably damaging	Het
Esco2	A	T	14: 66,068,914 (GRCm39)	V132E	probably damaging	Het
Gjb5	A	T	4: 127,250,033 (GRCm39)	L37Q	probably damaging	Het
Gm8020	T	A	14: 42,324,234 (GRCm39)	Y24F		Het
H2bc8	CTCGACCATCACGTC	CTC	13: 23,755,867 (GRCm39)		probably benign	Het
H2-Q6	T	C	17: 35,644,796 (GRCm39)	L195P	probably damaging	Het
Hc	T	C	2: 34,874,816 (GRCm39)	T1602A	probably damaging	Het
Hcrtr2	A	T	9: 76,153,662 (GRCm39)	Y243*	probably null	Het
Itga3	T	C	11: 94,946,719 (GRCm39)	H730R	probably benign	Het
Kif1a	A	T	1: 92,974,451 (GRCm39)	L866Q	probably damaging	Het
Krt81	A	T	15: 101,360,606 (GRCm39)	L127Q	probably damaging	Het
Mdn1	T	C	4: 32,719,223 (GRCm39)	I2262T	probably damaging	Het
Mxd3	A	T	13: 55,473,707 (GRCm39)	D170E	probably benign	Het
Myh2	A	G	11: 67,076,331 (GRCm39)	M811V	probably benign	Het
Naa16	A	T	14: 79,606,527 (GRCm39)	D335E	probably benign	Het
Nkd1	A	G	8: 89,249,028 (GRCm39)	T58A	probably benign	Het
Ogfrl1	T	A	1: 23,409,351 (GRCm39)	R292*	probably null	Het
Or52e2	T	A	7: 102,804,520 (GRCm39)	M145L	probably benign	Het
Or5w13	G	A	2: 87,524,059 (GRCm39)	H56Y	probably damaging	Het
Prss46	A	G	9: 110,680,484 (GRCm39)	K210E	probably damaging	Het
Scn8a	T	C	15: 100,927,573 (GRCm39)	Y1351H	probably damaging	Het
Shisa9	G	A	16: 12,085,344 (GRCm39)	V318I	probably benign	Het
Slc41a2	T	G	10: 83,090,744 (GRCm39)	H480P	probably damaging	Het
Slc45a1	C	A	4: 150,722,892 (GRCm39)	A331S	probably benign	Het
Smg1	A	T	7: 117,784,764 (GRCm39)	F885I	unknown	Het
Speer4f1	T	C	5: 17,685,412 (GRCm39)	S236P	unknown	Het
Zfp326	A	T	5: 106,062,556 (GRCm39)	Q475L	probably benign	Het
Zzef1	T	G	11: 72,786,002 (GRCm39)	V2058G	probably benign	Het

Other mutations in Pom121l12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6391:Pom121l12	UTSW	11	14,549,489 (GRCm39)	missense	probably damaging	0.98
R7246:Pom121l12	UTSW	11	14,549,551 (GRCm39)	missense	probably benign	0.03
R7334:Pom121l12	UTSW	11	14,549,681 (GRCm39)	missense	probably damaging	1.00
R7374:Pom121l12	UTSW	11	14,549,962 (GRCm39)	missense	probably benign	0.00
R7732:Pom121l12	UTSW	11	14,549,843 (GRCm39)	missense	probably damaging	1.00
R8178:Pom121l12	UTSW	11	14,550,011 (GRCm39)	missense	probably damaging	1.00
R8383:Pom121l12	UTSW	11	14,549,353 (GRCm39)	missense	probably benign	0.01
R8531:Pom121l12	UTSW	11	14,549,932 (GRCm39)	missense	probably benign	0.26
R9219:Pom121l12	UTSW	11	14,549,809 (GRCm39)	missense	probably damaging	1.00
R9360:Pom121l12	UTSW	11	14,549,516 (GRCm39)	missense	possibly damaging	0.88
Z1176:Pom121l12	UTSW	11	14,549,681 (GRCm39)	missense	probably damaging	1.00
Z1176:Pom121l12	UTSW	11	14,549,639 (GRCm39)	missense	probably damaging	0.98

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