Mutagenetix > Incidental Mutation

Incidental Mutation 'R2108:Plagl1'

232277

Institutional Source

Beutler Lab

Gene Symbol

Plagl1

Ensembl Gene

ENSMUSG00000019817

Gene Name

pleiomorphic adenoma gene-like 1

Synonyms

Zac1

MMRRC Submission

040112-MU

Accession Numbers

Essential gene?

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

Stock #

R2108 (G1)

Quality Score

128

Status

Not validated

Chromosome

Chromosomal Location

12966576-13007438 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 13004391 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] [ENSMUST00000145103] [ENSMUST00000193426]

AlphaFold

Q9JLQ4

Predicted Effect

unknown
Transcript: ENSMUST00000121325
AA Change: Q553P

SMART Domains

Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: Q553P

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: Q553P

SMART Domains

Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: Q553P

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: Q553P

SMART Domains

Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: Q553P

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: ENSMUST00000143582

Predicted Effect

probably benign
Transcript: ENSMUST00000145103

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd10	A	G	16: 45,552,303 (GRCm39)	M190T	probably benign	Het
Abhd5	A	G	9: 122,207,005 (GRCm39)	Y250C	probably damaging	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Adamtsl2	A	G	2: 26,985,570 (GRCm39)	M485V	probably benign	Het
Adamtsl4	G	T	3: 95,588,357 (GRCm39)	P577H	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Apc	T	C	18: 34,402,282 (GRCm39)	Y141H	probably damaging	Het
Arsi	A	T	18: 61,049,443 (GRCm39)	T109S	possibly damaging	Het
Asb3	G	A	11: 31,031,355 (GRCm39)		probably null	Het
Atm	T	C	9: 53,355,297 (GRCm39)	D2899G	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Bub1	T	C	2: 127,661,255 (GRCm39)	K279E	probably damaging	Het
C3	A	T	17: 57,530,974 (GRCm39)		probably null	Het
Cabcoco1	T	C	10: 68,267,153 (GRCm39)	K185E	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccr3	T	C	9: 123,829,336 (GRCm39)	S224P	possibly damaging	Het
Cdhr4	A	G	9: 107,874,843 (GRCm39)	T638A	probably damaging	Het
Cfap46	T	C	7: 139,263,677 (GRCm39)	I4V	probably benign	Het
Csf2rb2	A	T	15: 78,176,744 (GRCm39)	V216E	probably damaging	Het
Csmd3	A	T	15: 47,868,257 (GRCm39)	D754E	possibly damaging	Het
Dnaaf1	T	C	8: 120,309,471 (GRCm39)		probably null	Het
Dnah11	A	C	12: 117,984,088 (GRCm39)	Y2466D	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
E2f7	T	C	10: 110,616,763 (GRCm39)	Y668H	probably benign	Het
Ehmt1	A	T	2: 24,727,630 (GRCm39)	S735T	probably damaging	Het
Eomes	T	C	9: 118,307,920 (GRCm39)	F65L	probably benign	Het
Ercc6l2	T	C	13: 64,019,802 (GRCm39)		probably benign	Het
Fbrsl1	A	T	5: 110,526,300 (GRCm39)	L439Q	probably damaging	Het
Fyco1	C	T	9: 123,626,581 (GRCm39)		probably null	Het
Gfm2	A	G	13: 97,291,950 (GRCm39)	T229A	probably benign	Het
Gm7735	G	A	16: 88,966,433 (GRCm39)	G19D	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpr6	T	A	10: 40,946,649 (GRCm39)	Y311F	possibly damaging	Het
Gprc6a	A	T	10: 51,491,304 (GRCm39)	V744E	probably damaging	Het
Grin3a	C	T	4: 49,665,510 (GRCm39)	D1042N	possibly damaging	Het
Gstm3	A	G	3: 107,873,450 (GRCm39)	C174R	probably damaging	Het
Hectd4	A	G	5: 121,471,487 (GRCm39)	E2670G	possibly damaging	Het
Hsd3b6	A	T	3: 98,713,503 (GRCm39)	Y265*	probably null	Het
Hus1	T	A	11: 8,961,110 (GRCm39)	M1L	probably null	Het
Idi2l	G	A	13: 8,991,764 (GRCm39)	P221S	possibly damaging	Het
Ifi213	T	G	1: 173,396,668 (GRCm39)		probably null	Het
Igf2r	A	C	17: 12,917,138 (GRCm39)	N1587K	probably benign	Het
Ints1	A	T	5: 139,753,505 (GRCm39)	V709E	probably damaging	Het
Ints8	C	A	4: 11,235,552 (GRCm39)	R359L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	C	T	2: 41,000,769 (GRCm39)	E2152K	probably damaging	Het
Lrp2	A	T	2: 69,336,968 (GRCm39)	V1268D	possibly damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nfxl1	C	A	5: 72,671,675 (GRCm39)		probably null	Het
Nrp2	T	A	1: 62,783,436 (GRCm39)	I179N	probably damaging	Het
Nup153	A	G	13: 46,846,986 (GRCm39)		probably null	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or2g7	G	T	17: 38,378,746 (GRCm39)	R228L	possibly damaging	Het
Or5p54	A	T	7: 107,554,709 (GRCm39)	H287L	probably benign	Het
Or6c6c	A	T	10: 129,541,490 (GRCm39)	I248L	probably benign	Het
Or8g27	A	T	9: 39,129,318 (GRCm39)	I222F	probably damaging	Het
P2ry12	A	T	3: 59,124,774 (GRCm39)	D300E	probably damaging	Het
Pkhd1	C	A	1: 20,623,798 (GRCm39)	G766*	probably null	Het
Prkcq	A	T	2: 11,237,380 (GRCm39)	Y53F	probably damaging	Het
Psg18	T	C	7: 18,084,799 (GRCm39)	E99G	probably damaging	Het
Ptprz1	T	A	6: 23,033,476 (GRCm39)	H1921Q	probably damaging	Het
Rcc1l	A	G	5: 134,184,629 (GRCm39)	V391A	probably benign	Het
Sdr42e1	C	T	8: 118,391,763 (GRCm39)	V11I	probably damaging	Het
Slc12a3	C	A	8: 95,067,158 (GRCm39)	N404K	probably damaging	Het
Slc38a4	T	C	15: 96,906,878 (GRCm39)	M287V	probably benign	Het
Slc6a8	A	T	X: 72,720,492 (GRCm39)	I96F	possibly damaging	Het
Smyd2	A	G	1: 189,629,623 (GRCm39)	S136P	probably damaging	Het
Sox11	A	G	12: 27,391,702 (GRCm39)	Y236H	probably damaging	Het
Tbc1d2	G	A	4: 46,637,652 (GRCm39)	P198L	possibly damaging	Het
Tcof1	G	T	18: 60,968,845 (GRCm39)	A256E	probably damaging	Het
Tenm4	A	G	7: 96,555,497 (GRCm39)	Y2726C	probably damaging	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tril	T	C	6: 53,796,068 (GRCm39)	T385A	probably damaging	Het
Trrap	A	G	5: 144,762,684 (GRCm39)	T2386A	probably benign	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Uba7	A	G	9: 107,856,487 (GRCm39)	M595V	probably benign	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vmn2r69	T	C	7: 85,059,404 (GRCm39)	I502V	probably benign	Het
Vps13d	C	A	4: 144,801,617 (GRCm39)	G419C	probably damaging	Het
Zbtb25	A	T	12: 76,396,880 (GRCm39)	M114K	probably benign	Het
Zcchc4	A	G	5: 52,953,474 (GRCm39)	Y161C	probably damaging	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het
Zfp326	A	G	5: 106,062,646 (GRCm39)		probably benign	Het
Zfp395	T	A	14: 65,630,565 (GRCm39)	S372T	probably benign	Het
Zfp423	T	A	8: 88,507,806 (GRCm39)	E825V	possibly damaging	Het
Zfp445	A	T	9: 122,681,305 (GRCm39)	Y879N	probably benign	Het
Zfp451	A	G	1: 33,818,248 (GRCm39)	I77T	possibly damaging	Het
Zfp85	A	T	13: 67,897,003 (GRCm39)	S356R	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
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
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'- CCTCCTACTCCCCAGAATGGC -3'
(R):5'- GATAGCAGTGTTGGAGCCAG -3'

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

Posted On

2014-09-18