Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Plagl1'

223214

Institutional Source

Beutler Lab

Gene Symbol

Plagl1

Ensembl Gene

ENSMUSG00000019817

Gene Name

pleiomorphic adenoma gene-like 1

Synonyms

Zac1

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

R2002 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

12966576-13007438 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 13004402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121325] [ENSMUST00000121646] [ENSMUST00000121766] [ENSMUST00000130313] [ENSMUST00000143582] [ENSMUST00000193426] [ENSMUST00000145103]

AlphaFold

Q9JLQ4

Predicted Effect

unknown
Transcript: ENSMUST00000121325
AA Change: Q557K

SMART Domains

Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: Q557K

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	26	2.36e-2	SMART
ZnF_C2H2	32	56	7.9e-4	SMART
ZnF_C2H2	62	84	2.95e-3	SMART
ZnF_C2H2	91	113	2.71e-2	SMART
ZnF_C2H2	120	142	6.57e0	SMART
ZnF_C2H2	156	178	6.32e-3	SMART
ZnF_C2H2	184	207	1.25e-1	SMART
low complexity region	270	385	N/A	INTRINSIC
coiled coil region	640	657	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121646
AA Change: Q557K

SMART Domains

Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: Q557K

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	26	2.36e-2	SMART
ZnF_C2H2	32	56	7.9e-4	SMART
ZnF_C2H2	62	84	2.95e-3	SMART
ZnF_C2H2	91	113	2.71e-2	SMART
ZnF_C2H2	120	142	6.57e0	SMART
ZnF_C2H2	156	178	6.32e-3	SMART
ZnF_C2H2	184	207	1.25e-1	SMART
low complexity region	270	385	N/A	INTRINSIC
coiled coil region	640	657	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121766
AA Change: Q557K

SMART Domains

Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: Q557K

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	26	2.36e-2	SMART
ZnF_C2H2	32	56	7.9e-4	SMART
ZnF_C2H2	62	84	2.95e-3	SMART
ZnF_C2H2	91	113	2.71e-2	SMART
ZnF_C2H2	120	142	6.57e0	SMART
ZnF_C2H2	156	178	6.32e-3	SMART
ZnF_C2H2	184	207	1.25e-1	SMART
low complexity region	270	385	N/A	INTRINSIC
coiled coil region	640	657	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126880

Predicted Effect

probably benign
Transcript: ENSMUST00000130313

SMART Domains

Protein: ENSMUSP00000117321
Gene: ENSMUSG00000019817

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	26	2.36e-2	SMART
ZnF_C2H2	32	56	7.9e-4	SMART
ZnF_C2H2	62	84	2.95e-3	SMART
ZnF_C2H2	91	113	2.71e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135261

Predicted Effect

probably benign
Transcript: ENSMUST00000143582

Predicted Effect

probably benign
Transcript: ENSMUST00000193426

SMART Domains

Protein: ENSMUSP00000141514
Gene: ENSMUSG00000019817

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	26	1e-4	SMART
ZnF_C2H2	32	56	3.2e-6	SMART
ZnF_C2H2	62	84	1.3e-5	SMART
ZnF_C2H2	91	113	1.1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145103

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice exhibit significantly reduced birth weights. Heterozygous mice with a paternal copy of the null allele show reduced fetal and birth weights, altered ossification, dyspnea and background-dependent neonatal lethality, as well as wrinkled skin and curly tails with 30% penetrance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,489,002 (GRCm39)		noncoding transcript	Het
Abcb4	T	A	5: 8,955,989 (GRCm39)	S98T	probably benign	Het
Acan	T	C	7: 78,750,541 (GRCm39)	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Ak2	T	A	4: 128,902,022 (GRCm39)	S232T	probably benign	Het
Akr1e1	T	A	13: 4,657,564 (GRCm39)		probably benign	Het
Ano7	T	C	1: 93,328,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,300 (GRCm39)	H68Q	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Apba2	A	T	7: 64,383,290 (GRCm39)	I368F	probably damaging	Het
Armc3	A	G	2: 19,293,747 (GRCm39)	M513V	probably benign	Het
Asb5	G	A	8: 55,036,655 (GRCm39)	V116M	probably damaging	Het
Atg16l2	A	G	7: 100,944,127 (GRCm39)	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,383,835 (GRCm39)	T40K	probably damaging	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cip2a	T	C	16: 48,826,214 (GRCm39)		probably benign	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Ddx55	T	A	5: 124,704,503 (GRCm39)	V370E	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dnah10	C	T	5: 124,911,052 (GRCm39)	R4490W	probably damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Fgd3	T	C	13: 49,449,931 (GRCm39)	E106G	probably benign	Het
Frmd4a	A	C	2: 4,577,176 (GRCm39)	K344T	probably damaging	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Gm5089	T	A	14: 122,673,686 (GRCm39)	I12F	unknown	Het
Gm7052	T	A	17: 22,258,920 (GRCm39)		probably benign	Het
Gria1	A	T	11: 56,902,930 (GRCm39)	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,710,243 (GRCm39)	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,387,097 (GRCm39)	S982A	probably damaging	Het
Khdrbs3	T	A	15: 68,885,328 (GRCm39)		probably benign	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lmo7	G	T	14: 102,124,497 (GRCm39)	A319S	probably benign	Het
Ly6c1	T	A	15: 74,920,342 (GRCm39)	T7S	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mamdc4	A	T	2: 25,457,244 (GRCm39)	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,850,609 (GRCm39)	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,382,737 (GRCm39)	T158A	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,485,839 (GRCm39)	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,386,586 (GRCm39)	H655L	possibly damaging	Het
Npas2	T	C	1: 39,377,276 (GRCm39)	V546A	probably benign	Het
Nrxn3	G	A	12: 90,299,089 (GRCm39)	A400T	probably damaging	Het
Oog3	G	T	4: 143,884,675 (GRCm39)	H420Q	possibly damaging	Het
Or3a10	A	T	11: 73,935,865 (GRCm39)	S78R	possibly damaging	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pcca	A	G	14: 123,124,477 (GRCm39)	I683V	probably benign	Het
Pea15a	T	C	1: 172,026,252 (GRCm39)	I90V	probably benign	Het
Prmt1	A	G	7: 44,628,148 (GRCm39)	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,833 (GRCm39)	Y910*	probably null	Het
Rasal3	T	A	17: 32,612,585 (GRCm39)	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,860,223 (GRCm39)		probably benign	Het
S1pr1	A	G	3: 115,506,544 (GRCm39)	S17P	probably benign	Het
Scel	G	A	14: 103,779,421 (GRCm39)	V131M	probably damaging	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Snap29	T	A	16: 17,224,190 (GRCm39)	Y68*	probably null	Het
Spdl1	T	C	11: 34,713,473 (GRCm39)	T199A	probably benign	Het
Srbd1	T	C	17: 86,449,828 (GRCm39)	N14D	probably benign	Het
Ston1	G	A	17: 88,942,957 (GRCm39)	G121D	probably benign	Het
Syt16	G	A	12: 74,281,977 (GRCm39)	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,578,710 (GRCm39)	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,845,355 (GRCm39)	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,687,627 (GRCm39)		probably benign	Het
Trp73	T	C	4: 154,165,902 (GRCm39)	T56A	probably damaging	Het
Trpm3	A	G	19: 22,959,947 (GRCm39)	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,830,935 (GRCm39)		probably null	Het
Ube4b	T	C	4: 149,468,254 (GRCm39)	D174G	probably benign	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Wsb2	T	A	5: 117,508,798 (GRCm39)	N77K	probably benign	Het
Xkr4	C	T	1: 3,741,318 (GRCm39)	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,739,514 (GRCm39)		probably null	Het

Other mutations in Plagl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Plagl1	APN	10	13,003,616 (GRCm39)	unclassified	probably benign
R0554:Plagl1	UTSW	10	13,002,926 (GRCm39)	missense	probably benign	0.07
R0842:Plagl1	UTSW	10	13,004,298 (GRCm39)	unclassified	probably benign
R0967:Plagl1	UTSW	10	13,003,986 (GRCm39)	unclassified	probably benign
R1610:Plagl1	UTSW	10	13,004,706 (GRCm39)	unclassified	probably benign
R2107:Plagl1	UTSW	10	13,004,391 (GRCm39)	unclassified	probably benign
R2108:Plagl1	UTSW	10	13,004,391 (GRCm39)	unclassified	probably benign
R2191:Plagl1	UTSW	10	13,004,685 (GRCm39)	unclassified	probably benign
R4061:Plagl1	UTSW	10	13,004,515 (GRCm39)	unclassified	probably benign
R4062:Plagl1	UTSW	10	13,004,515 (GRCm39)	unclassified	probably benign
R4631:Plagl1	UTSW	10	13,003,743 (GRCm39)	unclassified	probably benign
R4924:Plagl1	UTSW	10	13,003,301 (GRCm39)	missense	possibly damaging	0.85
R5071:Plagl1	UTSW	10	13,003,005 (GRCm39)	missense	probably damaging	1.00
R5138:Plagl1	UTSW	10	13,003,919 (GRCm39)	unclassified	probably benign
R5893:Plagl1	UTSW	10	13,003,938 (GRCm39)	unclassified	probably benign
R5971:Plagl1	UTSW	10	13,003,490 (GRCm39)	missense	probably damaging	1.00
R6061:Plagl1	UTSW	10	13,003,639 (GRCm39)	unclassified	probably benign
R6138:Plagl1	UTSW	10	13,003,490 (GRCm39)	missense	probably damaging	1.00
R6170:Plagl1	UTSW	10	13,002,975 (GRCm39)	missense	probably damaging	1.00
R6625:Plagl1	UTSW	10	13,003,806 (GRCm39)	unclassified	probably benign
R6970:Plagl1	UTSW	10	13,000,860 (GRCm39)	missense	probably damaging	1.00
R7035:Plagl1	UTSW	10	13,003,977 (GRCm39)	unclassified	probably benign
R8265:Plagl1	UTSW	10	13,004,625 (GRCm39)	missense	unknown
R9145:Plagl1	UTSW	10	13,003,872 (GRCm39)	missense	unknown
R9668:Plagl1	UTSW	10	13,004,466 (GRCm39)	missense	unknown
R9676:Plagl1	UTSW	10	13,003,955 (GRCm39)	missense	unknown
U15987:Plagl1	UTSW	10	13,003,490 (GRCm39)	missense	probably damaging	1.00
Z1176:Plagl1	UTSW	10	13,004,460 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCCCCAGAATGGCTTTGTG -3'
(R):5'- GCACTCACTGCTATTTGGGC -3'

Sequencing Primer
(F):5'- CCCCAGAATGGCTTTGTGAATAGC -3'
(R):5'- CTGGCTGTGGCTCTTCCG -3'

Posted On

2014-08-25