Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Plagl1'

542195

Institutional Source

Beutler Lab

Gene Symbol

Plagl1

Ensembl Gene

ENSMUSG00000019817

Gene Name

pleiomorphic adenoma gene-like 1

Synonyms

Zac1

MMRRC Submission

045080-MU

Accession Numbers

Essential gene?

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

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12966576-13007438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13000860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 34 (C34R)

Ref Sequence

ENSEMBL: ENSMUSP00000141514 (fasta)

Gene Model

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

AlphaFold

Q9JLQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000121325
AA Change: C34R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: C34R

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

probably damaging
Transcript: ENSMUST00000121646
AA Change: C34R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: C34R

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

probably damaging
Transcript: ENSMUST00000121766
AA Change: C34R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: C34R

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

probably damaging
Transcript: ENSMUST00000130313
AA Change: C34R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117321
Gene: ENSMUSG00000019817
AA Change: C34R

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

probably benign
Transcript: ENSMUST00000143582

Predicted Effect

probably benign
Transcript: ENSMUST00000145103

Predicted Effect

probably damaging
Transcript: ENSMUST00000193426
AA Change: C34R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141514
Gene: ENSMUSG00000019817
AA Change: C34R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,036,044 (GRCm39)	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,395,669 (GRCm39)	S285P	probably benign	Het
Adcy10	A	G	1: 165,384,485 (GRCm39)	N1082S	probably benign	Het
Ahdc1	T	A	4: 132,789,656 (GRCm39)	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,602,945 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,895,805 (GRCm39)	V543A	probably damaging	Het
BC034090	T	A	1: 155,117,185 (GRCm39)	D311V	probably damaging	Het
Blnk	G	T	19: 40,950,821 (GRCm39)	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,875,927 (GRCm39)	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,529,903 (GRCm39)	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,491,954 (GRCm39)	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,507,248 (GRCm39)	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,723,902 (GRCm39)	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,008,149 (GRCm39)	F188L	probably benign	Het
Cplane1	T	C	15: 8,217,032 (GRCm39)	V750A	probably benign	Het
Dclk1	A	T	3: 55,374,022 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,587,674 (GRCm39)	L434H	probably damaging	Het
Ddx51	G	A	5: 110,804,728 (GRCm39)	V547M	probably damaging	Het
Dnah11	T	A	12: 118,072,679 (GRCm39)	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,156,629 (GRCm39)	E149G	probably damaging	Het
Efcab3	A	G	11: 104,667,182 (GRCm39)	E1422G	probably benign	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,035,924 (GRCm39)	N3192S	probably damaging	Het
Fat4	A	T	3: 39,050,120 (GRCm39)	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,191,936 (GRCm39)		probably null	Het
Gm12185	G	A	11: 48,798,739 (GRCm39)	R585*	probably null	Het
Gm32687	A	G	10: 81,715,304 (GRCm39)	H232R	probably benign	Het
Gm5431	G	T	11: 48,779,317 (GRCm39)	A535D	probably damaging	Het
Jarid2	C	T	13: 45,056,461 (GRCm39)	P556S	probably damaging	Het
Map3k4	C	A	17: 12,467,803 (GRCm39)	G1077V	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlxip	A	G	5: 123,583,735 (GRCm39)	T433A	possibly damaging	Het
Ms4a20	A	G	19: 11,089,678 (GRCm39)		probably null	Het
Mus81	G	T	19: 5,535,554 (GRCm39)	H199Q	probably benign	Het
Mylk3	G	A	8: 86,085,892 (GRCm39)	T54M	probably damaging	Het
Nalcn	A	G	14: 123,551,506 (GRCm39)	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,710,228 (GRCm39)	S513A	probably benign	Het
Ninj2	A	G	6: 120,175,092 (GRCm39)	I88V	possibly damaging	Het
Nomo1	C	T	7: 45,695,391 (GRCm39)	P277L	probably damaging	Het
Nup214	C	T	2: 31,941,810 (GRCm39)	S571L	probably damaging	Het
Or10g9b	T	A	9: 39,918,009 (GRCm39)	M79L	probably benign	Het
Or5b3	T	A	19: 13,388,792 (GRCm39)	N286K	probably damaging	Het
Or9a7	T	C	6: 40,521,590 (GRCm39)	S108G	probably benign	Het
Pcdh15	C	T	10: 74,338,519 (GRCm39)	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,375,070 (GRCm39)	A942T	possibly damaging	Het
Plekha2	T	C	8: 25,549,280 (GRCm39)	Q168R	probably benign	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plekhm3	T	G	1: 64,931,912 (GRCm39)	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,366,380 (GRCm39)	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,241,119 (GRCm39)	Y302*	probably null	Het
Prdm8	A	G	5: 98,332,471 (GRCm39)	E124G	probably damaging	Het
Prg4	T	G	1: 150,331,657 (GRCm39)		probably benign	Het
Qser1	A	G	2: 104,618,475 (GRCm39)	V779A	probably benign	Het
Rbm39	G	A	2: 156,009,504 (GRCm39)	R123C	probably damaging	Het
Ric1	C	T	19: 29,565,172 (GRCm39)	P640S	probably damaging	Het
Rpl14	G	A	9: 120,403,293 (GRCm39)		probably benign	Het
Rsl1d1	T	A	16: 11,011,558 (GRCm39)	D382V	probably benign	Het
Rubcn	G	T	16: 32,688,514 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,247,798 (GRCm39)	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,151,960 (GRCm39)	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,327,690 (GRCm39)	Y674S	probably damaging	Het
Spata31e3	A	T	13: 50,401,007 (GRCm39)	Y440N	possibly damaging	Het
Strc	A	C	2: 121,208,495 (GRCm39)	M292R	probably benign	Het
Syde2	A	G	3: 145,694,381 (GRCm39)	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,743,480 (GRCm39)	A97E	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tepsin	G	A	11: 119,986,190 (GRCm39)	T168M	probably damaging	Het
Tex15	A	T	8: 34,047,456 (GRCm39)	M178L	probably benign	Het
Tgfbr2	T	C	9: 115,939,119 (GRCm39)	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,713,744 (GRCm39)	V2531A	probably damaging	Het
Ttn	T	G	2: 76,725,767 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,687,000 (GRCm39)	D630E	probably damaging	Het
Ubr4	G	A	4: 139,133,839 (GRCm39)	W745*	probably null	Het
Vmn2r115	G	A	17: 23,564,989 (GRCm39)	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,078,340 (GRCm39)	K681*	probably null	Het
Xrcc6	A	G	15: 81,915,375 (GRCm39)	K98E	probably benign	Het
Zfp423	A	G	8: 88,530,407 (GRCm39)	V13A	probably benign	Het
Zfp512b	A	G	2: 181,228,141 (GRCm39)	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,717,670 (GRCm39)	E14K	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
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
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'- TGTCTGGGCTTAAATGGCAC -3'
(R):5'- CCATGGTCATCAATGGCATACC -3'

Sequencing Primer
(F):5'- TGGCACAGCAGTTCCTCAG -3'
(R):5'- CTGACAATAGGGCTTTAAAGAGTGCC -3'

Posted On

2018-11-28