Mutagenetix > Incidental Mutation

Incidental Mutation 'R4631:Plagl1'

349204

Institutional Source

Beutler Lab

Gene Symbol

Plagl1

Ensembl Gene

ENSMUSG00000019817

Gene Name

pleiomorphic adenoma gene-like 1

Synonyms

Zac1

MMRRC Submission

041896-MU

Accession Numbers

Essential gene?

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

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12966576-13007438 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 13003743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141514 (fasta)

Gene Model

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

AlphaFold

Q9JLQ4

Predicted Effect

unknown
Transcript: ENSMUST00000121325
AA Change: M337R

SMART Domains

Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: M337R

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: M337R

SMART Domains

Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: M337R

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: M337R

SMART Domains

Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: M337R

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: ENSMUST00000135261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135095

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143582

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,270 (GRCm39)	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,803,146 (GRCm39)	P661S	possibly damaging	Het
Adgre4	T	G	17: 56,121,305 (GRCm39)	M457R	probably null	Het
Ank	C	A	15: 27,467,176 (GRCm39)	F29L	probably benign	Het
Arhgap20	T	C	9: 51,751,653 (GRCm39)		probably benign	Het
Atf6	T	C	1: 170,574,766 (GRCm39)		probably null	Het
Bhmt1b	G	A	18: 87,774,525 (GRCm39)	R16H	probably damaging	Het
Bod1l	A	G	5: 41,975,078 (GRCm39)	F2079L	probably damaging	Het
Cd163	T	C	6: 124,306,045 (GRCm39)	*1122Q	probably null	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,926,697 (GRCm39)	Y558H	probably benign	Het
Ctsm	T	A	13: 61,685,510 (GRCm39)	S301C	probably null	Het
Dlc1	A	C	8: 37,404,712 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,737,822 (GRCm39)	I435F	probably damaging	Het
Dnah5	T	C	15: 28,402,099 (GRCm39)	V3420A	probably damaging	Het
Dnah5	T	A	15: 28,420,140 (GRCm39)	Y3813N	probably damaging	Het
Dnajc13	A	G	9: 104,067,616 (GRCm39)	M1181T	probably damaging	Het
Drc3	C	A	11: 60,255,734 (GRCm39)	T107N	probably benign	Het
Dydc2	T	C	14: 40,771,286 (GRCm39)	E131G	probably benign	Het
Eif5b	T	C	1: 38,080,828 (GRCm39)	V723A	probably damaging	Het
Fndc9	C	A	11: 46,128,675 (GRCm39)	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Gps1	T	A	11: 120,679,065 (GRCm39)		probably null	Het
Gvin3	A	G	7: 106,198,730 (GRCm39)		noncoding transcript	Het
Kazn	G	A	4: 141,845,471 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,942,821 (GRCm39)		noncoding transcript	Het
Kif19a	A	G	11: 114,675,673 (GRCm39)	I382V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Malsu1	A	T	6: 49,061,467 (GRCm39)	E177V	probably damaging	Het
Man2a2	A	G	7: 80,012,211 (GRCm39)	F649L	probably benign	Het
Map3k11	A	G	19: 5,740,941 (GRCm39)	I223V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh9	T	G	15: 77,681,228 (GRCm39)	D164A	probably damaging	Het
Myo16	T	C	8: 10,556,984 (GRCm39)	I1040T	probably damaging	Het
Myo18b	C	T	5: 112,994,266 (GRCm39)	A896T	probably damaging	Het
Myocd	G	T	11: 65,069,685 (GRCm39)	N798K	probably benign	Het
Or13c7b	T	C	4: 43,820,563 (GRCm39)	D266G	probably benign	Het
Or1n1b	T	G	2: 36,780,630 (GRCm39)	T77P	probably benign	Het
Or2l13b	G	A	16: 19,348,891 (GRCm39)	R260*	probably null	Het
Or4c11	C	T	2: 88,695,174 (GRCm39)	T75I	probably benign	Het
Or4g7	T	A	2: 111,309,908 (GRCm39)	W260R	probably damaging	Het
Or52a5	A	T	7: 103,426,682 (GRCm39)	L290Q	probably damaging	Het
Or5b105	T	A	19: 13,080,636 (GRCm39)	I11F	probably benign	Het
Pcdh18	T	A	3: 49,710,890 (GRCm39)	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,366,212 (GRCm39)	E334G	possibly damaging	Het
Pcyox1	T	C	6: 86,366,125 (GRCm39)	D363G	probably benign	Het
Pgm2	A	G	5: 64,263,290 (GRCm39)		probably null	Het
Ppp1r9a	A	G	6: 4,906,537 (GRCm39)	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,503,699 (GRCm39)	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,704,412 (GRCm39)	K279E	probably benign	Het
Rnf111	G	T	9: 70,357,678 (GRCm39)	T607N	probably benign	Het
Scn8a	C	A	15: 100,914,384 (GRCm39)	S1130*	probably null	Het
Selenbp1	A	G	3: 94,851,879 (GRCm39)	*473W	probably null	Het
Sh3bp4	A	C	1: 89,071,995 (GRCm39)	D281A	probably damaging	Het
Skint5	T	A	4: 113,486,314 (GRCm39)		probably null	Het
Slc1a4	A	G	11: 20,258,452 (GRCm39)	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,662 (GRCm39)	S222T	probably benign	Het
Slc7a4	A	G	16: 17,392,255 (GRCm39)	F393S	probably damaging	Het
Slc9a2	A	T	1: 40,801,078 (GRCm39)	D536V	possibly damaging	Het
Stra6	T	A	9: 58,048,115 (GRCm39)		probably benign	Het
Tmem145	A	G	7: 25,007,250 (GRCm39)	D156G	probably benign	Het
Tns3	A	C	11: 8,401,119 (GRCm39)	F1060V	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trappc8	A	G	18: 21,000,865 (GRCm39)	S273P	probably benign	Het
Trmt11	A	G	10: 30,435,200 (GRCm39)	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,066,980 (GRCm39)	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,490,758 (GRCm39)	C192Y	probably benign	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,829,962 (GRCm39)	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,278 (GRCm39)	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 45,020,698 (GRCm39)	E1427D	probably benign	Het
Zbed6	A	T	1: 133,586,482 (GRCm39)	V285E	probably damaging	Het
Zbtb26	A	G	2: 37,326,968 (GRCm39)	F23L	probably benign	Het
Zfp62	T	A	11: 49,108,632 (GRCm39)	*908R	probably null	Het
Zfp975	A	T	7: 42,312,369 (GRCm39)	N81K	probably benign	Het
Zkscan16	G	A	4: 58,951,918 (GRCm39)	V198M	probably damaging	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
R2002:Plagl1	UTSW	10	13,004,402 (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
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'- AGCCTTTGGAGCCTTTGGAG -3'
(R):5'- ACGGGCATGCCTACAAATGG -3'

Sequencing Primer
(F):5'- CCTTTGGAGCCTTTGGAGCC -3'
(R):5'- TGCCTACAAATGGGGCATATG -3'

Posted On

2015-10-08