Mutagenetix > Incidental Mutation

Incidental Mutation 'R6391:Pom121l12'

515771

Institutional Source

Beutler Lab

Gene Symbol

Pom121l12

Ensembl Gene

ENSMUSG00000084135

Gene Name

POM121 membrane glycoprotein-like 12

Synonyms

MMRRC Submission

044540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6391 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14549276-14550314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14549489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 65 (D65V)

Ref Sequence

ENSEMBL: ENSMUSP00000147960 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000117584
AA Change: D65V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139973

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl7b	G	T	5: 135,208,879 (GRCm39)	S114I	probably damaging	Het
Cct8	A	T	16: 87,284,566 (GRCm39)	M207K	probably benign	Het
Cnga1	A	G	5: 72,769,702 (GRCm39)		probably null	Het
Cst13	T	C	2: 148,670,111 (GRCm39)	C94R	probably damaging	Het
Cyp8b1	G	T	9: 121,744,864 (GRCm39)	S156*	probably null	Het
Dip2b	T	C	15: 100,049,157 (GRCm39)	S184P	probably damaging	Het
Dmbt1	T	C	7: 130,659,984 (GRCm39)	W516R	probably damaging	Het
Dock8	A	T	19: 25,072,914 (GRCm39)	Y398F	possibly damaging	Het
Drosha	T	A	15: 12,889,803 (GRCm39)	C890*	probably null	Het
Eed	A	G	7: 89,626,149 (GRCm39)	S75P	probably benign	Het
Efcab3	T	C	11: 104,885,143 (GRCm39)	L4134S	possibly damaging	Het
Etaa1	A	C	11: 17,896,833 (GRCm39)	I428S	probably benign	Het
F5	A	T	1: 164,021,062 (GRCm39)	D1179V	probably damaging	Het
Fat1	T	C	8: 45,405,379 (GRCm39)	V710A	possibly damaging	Het
Fmo4	G	A	1: 162,621,538 (GRCm39)	Q558*	probably null	Het
Gm7361	A	G	5: 26,463,960 (GRCm39)	I72V	probably benign	Het
Grm4	A	G	17: 27,654,294 (GRCm39)	V552A	probably benign	Het
Krt13	T	A	11: 100,010,202 (GRCm39)	I260F	probably damaging	Het
Krtap3-3	T	C	11: 99,441,490 (GRCm39)	D49G	probably damaging	Het
Lpin1	T	C	12: 16,614,554 (GRCm39)	E409G	probably benign	Het
Ly9	A	G	1: 171,428,576 (GRCm39)	V238A	possibly damaging	Het
Map2k6	T	C	11: 110,381,703 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,759,315 (GRCm39)	L362P	probably damaging	Het
Or4c120	T	A	2: 89,000,942 (GRCm39)	I205F	probably benign	Het
Or4c3	A	G	2: 89,851,975 (GRCm39)	V145A	probably benign	Het
Or51a6	T	A	7: 102,604,622 (GRCm39)	Y69F	possibly damaging	Het
Pcdha9	G	A	18: 37,130,972 (GRCm39)	V14M	probably benign	Het
Pdzrn4	A	T	15: 92,578,418 (GRCm39)	E380D	probably damaging	Het
Piezo2	A	G	18: 63,239,364 (GRCm39)	Y739H	possibly damaging	Het
Pigk	A	G	3: 152,446,486 (GRCm39)	H195R	probably benign	Het
Plin2	T	C	4: 86,580,236 (GRCm39)	D175G	probably null	Het
Plk4	T	A	3: 40,763,408 (GRCm39)	H526Q	probably benign	Het
Prb1a	T	C	6: 132,184,139 (GRCm39)	Y498C	unknown	Het
Sh3bp2	G	A	5: 34,718,947 (GRCm39)	V495I	probably damaging	Het
Slx4ip	T	A	2: 136,888,669 (GRCm39)	C117S	probably damaging	Het
Tmtc2	A	T	10: 105,409,551 (GRCm39)	S20R	probably benign	Het
Unc79	A	G	12: 102,987,269 (GRCm39)	Y186C	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r26	T	C	6: 124,038,348 (GRCm39)	L641P	probably damaging	Het
Wdr17	A	T	8: 55,114,495 (GRCm39)	S674T	probably benign	Het
Zfp959	T	C	17: 56,202,854 (GRCm39)	F10L	probably damaging	Het

Other mutations in Pom121l12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4508001:Pom121l12	UTSW	11	14,549,689 (GRCm39)	missense	possibly damaging	0.82
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'- TCACCTCAGAGATCGCTGTC -3'
(R):5'- GTCCATCAAATCGTCTAGTCCC -3'

Sequencing Primer
(F):5'- TCAGAGATCGCTGTCTGCCC -3'
(R):5'- GAGAGCTCTCAGCACTGTCTC -3'

Posted On

2018-05-04