Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Plagl1'

694577

Institutional Source

Beutler Lab

Gene Symbol

Plagl1

Ensembl Gene

ENSMUSG00000019817

Gene Name

pleiomorphic adenoma gene-like 1

Synonyms

Zac1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13060504-13131694 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13128128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 380 (L380P)

Ref Sequence

ENSEMBL: ENSMUSP00000112847 (fasta)

Gene Model

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

AlphaFold

Q9JLQ4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000112889
Gene: ENSMUSG00000019817
AA Change: L380P

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: L380P

SMART Domains

Protein: ENSMUSP00000112847
Gene: ENSMUSG00000019817
AA Change: L380P

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: L380P

SMART Domains

Protein: ENSMUSP00000113710
Gene: ENSMUSG00000019817
AA Change: L380P

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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly damaging	Het

Other mutations in Plagl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Plagl1	APN	10	13127872	unclassified	probably benign
R0554:Plagl1	UTSW	10	13127182	missense	probably benign	0.07
R0842:Plagl1	UTSW	10	13128554	unclassified	probably benign
R0967:Plagl1	UTSW	10	13128242	unclassified	probably benign
R1610:Plagl1	UTSW	10	13128962	unclassified	probably benign
R2002:Plagl1	UTSW	10	13128658	unclassified	probably benign
R2107:Plagl1	UTSW	10	13128647	unclassified	probably benign
R2108:Plagl1	UTSW	10	13128647	unclassified	probably benign
R2191:Plagl1	UTSW	10	13128941	unclassified	probably benign
R4061:Plagl1	UTSW	10	13128771	unclassified	probably benign
R4062:Plagl1	UTSW	10	13128771	unclassified	probably benign
R4631:Plagl1	UTSW	10	13127999	unclassified	probably benign
R4924:Plagl1	UTSW	10	13127557	missense	possibly damaging	0.85
R5071:Plagl1	UTSW	10	13127261	missense	probably damaging	1.00
R5138:Plagl1	UTSW	10	13128175	unclassified	probably benign
R5893:Plagl1	UTSW	10	13128194	unclassified	probably benign
R5971:Plagl1	UTSW	10	13127746	missense	probably damaging	1.00
R6061:Plagl1	UTSW	10	13127895	unclassified	probably benign
R6138:Plagl1	UTSW	10	13127746	missense	probably damaging	1.00
R6170:Plagl1	UTSW	10	13127231	missense	probably damaging	1.00
R6625:Plagl1	UTSW	10	13128062	unclassified	probably benign
R6970:Plagl1	UTSW	10	13125116	missense	probably damaging	1.00
R7035:Plagl1	UTSW	10	13128233	unclassified	probably benign
R8265:Plagl1	UTSW	10	13128881	missense	unknown
R9668:Plagl1	UTSW	10	13128722	missense	unknown
R9676:Plagl1	UTSW	10	13128211	missense	unknown
U15987:Plagl1	UTSW	10	13127746	missense	probably damaging	1.00
Z1176:Plagl1	UTSW	10	13128716	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCTTTAGAGCCTTTGGAGC -3'
(R):5'- ACATGGGTTGAACTTGAGAGGC -3'

Sequencing Primer
(F):5'- AGAGCCTTTGGAGCCTCTG -3'
(R):5'- GGCTCTTGCAGAGGAAATTCC -3'

Posted On

2022-01-20