Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Plagl1'

45375

Institutional Source

Beutler Lab

Gene Symbol

Plagl1

Ensembl Gene

ENSMUSG00000019817

Gene Name

pleiomorphic adenoma gene-like 1

Synonyms

Zac1

MMRRC Submission

038746-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.408) question?

Stock #

R0554 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

12966576-13007438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13002926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 65 (T65A)

Ref Sequence

ENSEMBL: ENSMUSP00000113710 (fasta)

Gene Model

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

AlphaFold

Q9JLQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000121325
AA Change: T65A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: T65A

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 benign
Transcript: ENSMUST00000121646
AA Change: T65A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: T65A

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 benign
Transcript: ENSMUST00000121766
AA Change: T65A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: T65A

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
AA Change: T65A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117321
Gene: ENSMUSG00000019817
AA Change: T65A

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: ENSMUST00000193426
AA Change: T65A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141514
Gene: ENSMUSG00000019817
AA Change: T65A

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

noncoding transcript
Transcript: ENSMUST00000135095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135261

Predicted Effect

probably benign
Transcript: ENSMUST00000145103

Predicted Effect

probably benign
Transcript: ENSMUST00000143582

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,029,196 (GRCm39)	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,600,451 (GRCm39)	D386G	probably damaging	Het
Ace2	T	A	X: 162,958,947 (GRCm39)	N601K	probably benign	Het
Adam4	A	C	12: 81,468,198 (GRCm39)	I141R	probably damaging	Het
Adcy10	G	A	1: 165,340,699 (GRCm39)	G235S	probably benign	Het
Adcy5	G	A	16: 35,114,387 (GRCm39)	V997I	probably benign	Het
Aff2	T	G	X: 68,907,680 (GRCm39)	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,802,917 (GRCm39)	N194D	probably benign	Het
Apba2	T	G	7: 64,395,528 (GRCm39)	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581 (GRCm39)	D152G	probably damaging	Het
Bcl3	C	G	7: 19,553,991 (GRCm39)	V126L	probably benign	Het
Cd163	A	G	6: 124,289,619 (GRCm39)	T446A	probably benign	Het
Cd209g	C	T	8: 4,184,995 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,823,901 (GRCm39)	V197E	probably damaging	Het
CN725425	T	C	15: 91,144,966 (GRCm39)	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,446,995 (GRCm39)		probably null	Het
Coro7	A	G	16: 4,450,121 (GRCm39)	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Dhx57	A	T	17: 80,567,665 (GRCm39)	L806*	probably null	Het
Dlec1	T	C	9: 118,944,070 (GRCm39)	V373A	probably benign	Het
Dnah11	G	T	12: 117,894,913 (GRCm39)	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,343,602 (GRCm39)	S1649P	probably benign	Het
Draxin	T	G	4: 148,192,420 (GRCm39)	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401 (GRCm39)	S841P	probably damaging	Het
Esp8	T	G	17: 40,841,166 (GRCm39)	D142E	unknown	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Fancc	T	C	13: 63,465,283 (GRCm39)	S475G	probably benign	Het
Fmo3	T	C	1: 162,781,901 (GRCm39)	N484S	probably benign	Het
Focad	T	C	4: 88,267,126 (GRCm39)	Y1046H	unknown	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Fut8	A	T	12: 77,411,744 (GRCm39)	I69L	probably benign	Het
Gnai3	A	G	3: 108,030,928 (GRCm39)	I78T	probably benign	Het
Gpr182	T	C	10: 127,586,940 (GRCm39)	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447 (GRCm39)	M57T	probably benign	Het
Grm1	T	A	10: 10,595,667 (GRCm39)	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,979,531 (GRCm39)	T371A	probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hmcn1	T	C	1: 150,594,868 (GRCm39)	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iigp1c	G	A	18: 60,378,489 (GRCm39)	R8H	probably benign	Het
Inpp5j	A	G	11: 3,449,644 (GRCm39)	Y713H	probably damaging	Het
Ints6	A	T	14: 62,942,200 (GRCm39)	V511D	possibly damaging	Het
Irag2	G	A	6: 145,111,013 (GRCm39)	A237T	probably benign	Het
Itga4	A	G	2: 79,109,461 (GRCm39)	Y220C	probably damaging	Het
Itgav	T	G	2: 83,624,614 (GRCm39)	S735A	possibly damaging	Het
Kctd16	A	G	18: 40,391,492 (GRCm39)	I27V	probably benign	Het
Klhl6	T	C	16: 19,772,343 (GRCm39)	E334G	probably damaging	Het
Ltbp1	T	A	17: 75,532,274 (GRCm39)	L116H	probably damaging	Het
Magohb	T	A	6: 131,262,660 (GRCm39)	H98L	probably benign	Het
Mgat2	A	G	12: 69,232,166 (GRCm39)	T247A	probably benign	Het
Mtif2	G	A	11: 29,483,398 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,664,878 (GRCm39)	E384G	probably damaging	Het
Nfam1	G	T	15: 82,917,410 (GRCm39)	R8S	probably benign	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or14c46	A	T	7: 85,918,865 (GRCm39)	I44N	probably damaging	Het
Or2w3b	T	C	11: 58,623,865 (GRCm39)	N42S	probably damaging	Het
Or5m10b	T	C	2: 85,699,863 (GRCm39)	F309S	probably benign	Het
Or6c207	T	C	10: 129,104,368 (GRCm39)	T275A	probably benign	Het
Orc4	C	T	2: 48,795,433 (GRCm39)	S431N	probably benign	Het
Pax2	T	C	19: 44,750,300 (GRCm39)	V129A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,572 (GRCm39)	D268G	probably damaging	Het
Pdcd1	G	A	1: 93,967,107 (GRCm39)	R264C	probably damaging	Het
Pi15	T	A	1: 17,691,872 (GRCm39)	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Pramel51	T	C	12: 88,144,328 (GRCm39)	T162A	probably benign	Het
Prss48	T	A	3: 85,908,228 (GRCm39)	Q18L	probably benign	Het
Prune2	T	A	19: 17,102,582 (GRCm39)	C2580*	probably null	Het
Rab40b	T	A	11: 121,250,432 (GRCm39)	Q74L	probably damaging	Het
Raf1	A	G	6: 115,600,491 (GRCm39)	I376T	probably benign	Het
Rbm46	A	T	3: 82,772,575 (GRCm39)	F186I	probably damaging	Het
Reps1	C	T	10: 17,998,867 (GRCm39)	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,855 (GRCm39)	M649T	probably benign	Het
Rhot1	C	T	11: 80,134,264 (GRCm39)	R47*	probably null	Het
Rhox2f	A	G	X: 36,753,124 (GRCm39)	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,760,007 (GRCm39)	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,201,756 (GRCm39)	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,295 (GRCm39)	M63K	probably benign	Het
Sbf2	C	A	7: 110,027,494 (GRCm39)	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,791,467 (GRCm39)	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,087,455 (GRCm39)	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Sulf1	T	C	1: 12,875,418 (GRCm39)	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,488,956 (GRCm39)	R755*	probably null	Het
Trim12c	C	A	7: 103,994,169 (GRCm39)	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,743 (GRCm39)	Q290K	probably benign	Het
Uba3	T	C	6: 97,168,221 (GRCm39)		probably null	Het
Ugt1a10	A	G	1: 87,983,817 (GRCm39)	E205G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,206 (GRCm39)	S72T	probably benign	Het
Upk3bl	C	T	5: 136,088,648 (GRCm39)	T113I	probably damaging	Het
Uspl1	T	A	5: 149,124,644 (GRCm39)	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,313,102 (GRCm39)	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,583,129 (GRCm39)	K29*	probably null	Het
Vwf	C	T	6: 125,619,744 (GRCm39)	A1474V	probably benign	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het
Zfp536	T	C	7: 37,180,244 (GRCm39)	D787G	probably damaging	Het
Zfp692	A	G	11: 58,205,053 (GRCm39)	H434R	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	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
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
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'- CACCCTGAAGCATGATGGGAACTAC -3'
(R):5'- ACAGGTGAGATCGCCATTGCTC -3'

Sequencing Primer
(F):5'- GTCAAACTGGGTAGTTCAGAAACTTC -3'
(R):5'- CATTGCTCGCCGAGTGC -3'

Posted On

2013-06-11