Mutagenetix > Incidental Mutation

Incidental Mutation 'R9391:Prdm12'

710580

Institutional Source

Beutler Lab

Gene Symbol

Prdm12

Ensembl Gene

ENSMUSG00000079466

Gene Name

PR domain containing 12

Synonyms

LOC381359

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9391 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31530049-31545807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31544162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 255 (R255H)

Ref Sequence

ENSEMBL: ENSMUSP00000109098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113470]

AlphaFold

A2AJ77

Predicted Effect

probably benign
Transcript: ENSMUST00000113470
AA Change: R255H

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109098
Gene: ENSMUSG00000079466
AA Change: R255H

Domain	Start	End	E-Value	Type
SET	86	209	1.24e-4	SMART
ZnF_C2H2	243	265	5.5e-3	SMART
ZnF_C2H2	271	293	1.82e-3	SMART
ZnF_C2H2	299	323	2.17e-1	SMART
low complexity region	329	362	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,178,542 (GRCm39)	T1144A	probably benign	Het
Adam32	C	T	8: 25,374,472 (GRCm39)	E507K	probably damaging	Het
Adgrf3	T	C	5: 30,400,071 (GRCm39)	E974G	possibly damaging	Het
Agbl1	A	G	7: 76,071,602 (GRCm39)	E560G	unknown	Het
Ank2	A	T	3: 126,731,394 (GRCm39)	H671Q	probably damaging	Het
Asic5	C	T	3: 81,928,366 (GRCm39)	T485M	probably benign	Het
Bco2	T	C	9: 50,446,022 (GRCm39)		probably null	Het
C1qtnf6	A	G	15: 78,415,516 (GRCm39)	C23R	unknown	Het
Ccdc18	T	C	5: 108,376,770 (GRCm39)	F1404L	probably benign	Het
Cfap46	A	T	7: 139,198,027 (GRCm39)	I2107N	unknown	Het
Cfap97d1	G	T	11: 101,881,655 (GRCm39)	R117I	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpb2	A	C	14: 75,508,136 (GRCm39)	Q199P	probably damaging	Het
Dnah7b	T	A	1: 46,272,914 (GRCm39)	Y2347*	probably null	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
F2r	A	T	13: 95,740,656 (GRCm39)	V293D	probably damaging	Het
Gm28363	G	A	1: 117,626,629 (GRCm39)	W22*	probably null	Het
Hira	T	C	16: 18,767,892 (GRCm39)	S696P	possibly damaging	Het
Klhl2	A	G	8: 65,275,684 (GRCm39)	V73A	probably damaging	Het
Lalba	A	T	15: 98,380,417 (GRCm39)	W46R	probably damaging	Het
Map3k13	C	A	16: 21,740,665 (GRCm39)	T664N	probably benign	Het
Ncor1	T	A	11: 62,216,376 (GRCm39)	K1166*	probably null	Het
Npdc1	T	A	2: 25,297,979 (GRCm39)	M176K	possibly damaging	Het
Obscn	A	G	11: 58,964,408 (GRCm39)	S3045P	probably damaging	Het
Or13a20	G	A	7: 140,232,272 (GRCm39)	A127T	probably damaging	Het
Plekhg4	G	C	8: 106,106,043 (GRCm39)	K813N	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rbbp8	T	C	18: 11,854,990 (GRCm39)	I405T	possibly damaging	Het
Sctr	A	G	1: 119,983,178 (GRCm39)	T328A	probably benign	Het
Sec63	T	A	10: 42,681,101 (GRCm39)	S362T	probably benign	Het
Sgsm2	A	G	11: 74,744,630 (GRCm39)	L818P	probably damaging	Het
Shprh	G	A	10: 11,038,633 (GRCm39)	V463I	probably benign	Het
Smyd5	T	C	6: 85,418,739 (GRCm39)	F241S	probably damaging	Het
Tax1bp1	T	A	6: 52,735,220 (GRCm39)	Y680*	probably null	Het
Tbc1d17	A	G	7: 44,494,683 (GRCm39)	S212P	probably damaging	Het
Tle1	A	T	4: 72,116,159 (GRCm39)	V62E	probably damaging	Het
Tnfaip3	G	T	10: 18,883,075 (GRCm39)	N163K	probably damaging	Het
Trim8	T	A	19: 46,503,955 (GRCm39)	Y502*	probably null	Het
Trip12	A	T	1: 84,773,473 (GRCm39)	F54L	probably benign	Het
Trpc2	T	A	7: 101,745,067 (GRCm39)	L761Q	probably damaging	Het
Vps41	A	T	13: 18,994,616 (GRCm39)	E154D	probably benign	Het

Other mutations in Prdm12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0674:Prdm12	UTSW	2	31,533,924 (GRCm39)	missense	probably benign	0.23
R1424:Prdm12	UTSW	2	31,533,823 (GRCm39)	missense	probably damaging	1.00
R1434:Prdm12	UTSW	2	31,530,319 (GRCm39)	missense	possibly damaging	0.73
R1495:Prdm12	UTSW	2	31,530,205 (GRCm39)	missense	probably damaging	1.00
R1509:Prdm12	UTSW	2	31,544,186 (GRCm39)	missense	probably damaging	1.00
R2135:Prdm12	UTSW	2	31,530,325 (GRCm39)	missense	possibly damaging	0.73
R2432:Prdm12	UTSW	2	31,541,864 (GRCm39)	missense	probably benign	0.02
R3801:Prdm12	UTSW	2	31,541,959 (GRCm39)	missense	probably damaging	0.96
R6092:Prdm12	UTSW	2	31,533,889 (GRCm39)	missense	probably damaging	1.00
R6311:Prdm12	UTSW	2	31,544,321 (GRCm39)	missense	probably benign	0.14
R6511:Prdm12	UTSW	2	31,530,321 (GRCm39)	missense	probably damaging	0.99
R7252:Prdm12	UTSW	2	31,532,386 (GRCm39)	missense	possibly damaging	0.92
R7292:Prdm12	UTSW	2	31,533,862 (GRCm39)	missense	probably damaging	1.00
R7686:Prdm12	UTSW	2	31,530,229 (GRCm39)	missense	probably damaging	0.96
R7747:Prdm12	UTSW	2	31,543,883 (GRCm39)	splice site	probably null
R7872:Prdm12	UTSW	2	31,530,231 (GRCm39)	missense	probably damaging	1.00
R8077:Prdm12	UTSW	2	31,532,316 (GRCm39)	missense	probably damaging	0.99
R9108:Prdm12	UTSW	2	31,533,929 (GRCm39)	missense	possibly damaging	0.95
R9231:Prdm12	UTSW	2	31,530,265 (GRCm39)	missense	probably benign	0.05
X0023:Prdm12	UTSW	2	31,530,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTAGATCACAGCCATGACCC -3'
(R):5'- TCTGCAAGACGGATCAGGAG -3'

Sequencing Primer
(F):5'- CAGCCATGACCCGCTGC -3'
(R):5'- ACGGATCAGGAGTGGGTTCC -3'

Posted On

2022-04-18