Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Plekhn1'

216111

Institutional Source

Beutler Lab

Gene Symbol

Plekhn1

Ensembl Gene

ENSMUSG00000078485

Gene Name

pleckstrin homology domain containing, family N member 1

Synonyms

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0276 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

156305913-156312999 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156312703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 52 (N52Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000105571] [ENSMUST00000217885] [ENSMUST00000218699]

AlphaFold

Q8C886

Predicted Effect

probably benign
Transcript: ENSMUST00000105569

SMART Domains

Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485

Domain	Start	End	E-Value	Type
low complexity region	20	50	N/A	INTRINSIC
BTB	90	187	3.55e-30	SMART
BACK	192	294	1.08e-42	SMART
Kelch	341	387	4.01e-8	SMART
Kelch	388	434	5.41e-14	SMART
Kelch	435	481	6.97e-17	SMART
Kelch	482	528	1.55e-14	SMART
Kelch	529	575	2.02e-13	SMART
Kelch	576	622	1.34e-9	SMART
low complexity region	626	640	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105571
AA Change: N52Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: N52Y

Domain	Start	End	E-Value	Type
PH	96	192	4.6e-4	SMART
PH	227	324	8.34e-2	SMART
low complexity region	346	359	N/A	INTRINSIC
low complexity region	403	414	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184043

Predicted Effect

probably damaging
Transcript: ENSMUST00000217885
AA Change: N52Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218699
AA Change: N52Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Meta Mutation Damage Score

0.2280

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,865,772 (GRCm39)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,400,160 (GRCm39)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,845 (GRCm39)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,432,975 (GRCm39)	V136I	probably damaging	Het
Arhgap10	A	T	8: 78,140,210 (GRCm39)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,222,669 (GRCm39)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,844,298 (GRCm39)		probably benign	Het
Aspm	T	C	1: 139,406,209 (GRCm39)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,625,151 (GRCm39)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,085,468 (GRCm39)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,944,016 (GRCm39)		probably benign	Het
Baiap3	A	C	17: 25,462,661 (GRCm39)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,361,663 (GRCm39)		probably null	Het
Bms1	G	A	6: 118,385,095 (GRCm39)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,318,546 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm39)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 57,965,675 (GRCm39)	P364Q	probably damaging	Het
Clstn3	A	G	6: 124,408,699 (GRCm39)		probably benign	Het
Cntrl	A	T	2: 35,041,744 (GRCm39)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,538,023 (GRCm39)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,304,162 (GRCm39)	H503R	probably benign	Het
Crb1	T	A	1: 139,251,073 (GRCm39)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 25,042,028 (GRCm39)	T319I	possibly damaging	Het
Dnaaf10	T	C	11: 17,179,821 (GRCm39)	I274T	probably benign	Het
Dzip1l	G	A	9: 99,543,051 (GRCm39)	R502Q	probably benign	Het
Efcab5	A	G	11: 77,020,702 (GRCm39)	M673T	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
F2rl3	A	G	8: 73,489,426 (GRCm39)	T218A	probably benign	Het
Fam135a	C	T	1: 24,107,045 (GRCm39)	R31H	probably damaging	Het
Fcer2a	A	T	8: 3,739,811 (GRCm39)	N53K	possibly damaging	Het
Golgb1	A	C	16: 36,734,238 (GRCm39)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,542,160 (GRCm39)		probably benign	Het
Haspin	A	T	11: 73,027,313 (GRCm39)	L592Q	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Iho1	A	T	9: 108,305,639 (GRCm39)	M11K	possibly damaging	Het
Il17rb	T	A	14: 29,726,337 (GRCm39)	T84S	probably damaging	Het
Itga4	T	C	2: 79,151,837 (GRCm39)	L880P	probably damaging	Het
Itih5	A	G	2: 10,190,375 (GRCm39)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,478,821 (GRCm39)	L415F	unknown	Het
Kif2a	A	G	13: 107,113,158 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,748,192 (GRCm39)		probably benign	Het
Lars2	A	G	9: 123,267,186 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,367,677 (GRCm39)	V73A	probably benign	Het
Lratd2	G	T	15: 60,695,523 (GRCm39)	Y74*	probably null	Het
Lrrc8a	A	G	2: 30,146,800 (GRCm39)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 65,946,011 (GRCm39)		probably benign	Het
Mc2r	A	T	18: 68,541,203 (GRCm39)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,340,933 (GRCm39)		probably null	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,314,517 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,462,301 (GRCm39)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,331,108 (GRCm39)	N429K	probably benign	Het
Nlrp9b	A	G	7: 19,762,423 (GRCm39)	T247A	probably benign	Het
Noxo1	A	T	17: 24,919,136 (GRCm39)		probably null	Het
Or1n1b	A	T	2: 36,780,035 (GRCm39)	M275K	probably benign	Het
Or2ag2b	A	T	7: 106,417,904 (GRCm39)	I205L	probably benign	Het
Or3a10	A	G	11: 73,935,944 (GRCm39)	I52T	probably damaging	Het
Or4c107	T	A	2: 88,789,099 (GRCm39)	C96*	probably null	Het
Or4m1	C	A	14: 50,557,636 (GRCm39)	A219S	probably benign	Het
Oxr1	T	C	15: 41,683,458 (GRCm39)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,406,601 (GRCm39)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,545,917 (GRCm39)	T232S	probably benign	Het
Plcxd2	A	T	16: 45,830,070 (GRCm39)	N50K	probably benign	Het
Prl2c5	T	C	13: 13,357,634 (GRCm39)		probably benign	Het
Prrc2b	G	A	2: 32,109,666 (GRCm39)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,164,321 (GRCm39)	N130K	probably benign	Het
Psme4	C	A	11: 30,761,980 (GRCm39)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,458,104 (GRCm39)	K296E	probably benign	Het
Ptprq	T	C	10: 107,378,596 (GRCm39)		probably null	Het
Rab5b	A	C	10: 128,522,615 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,412,540 (GRCm39)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rsu1	A	T	2: 13,174,946 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,044,029 (GRCm39)	M887V	probably benign	Het
Sgcz	T	A	8: 38,420,073 (GRCm39)	M60L	probably benign	Het
Siglec1	G	A	2: 130,925,861 (GRCm39)	Q282*	probably null	Het
Sipa1l2	T	C	8: 126,148,679 (GRCm39)	T1655A	probably damaging	Het
Slc28a2b	T	A	2: 122,352,409 (GRCm39)	S389T	probably damaging	Het
Slc43a3	G	A	2: 84,768,007 (GRCm39)		probably benign	Het
Snx29	T	C	16: 11,556,237 (GRCm39)	V756A	probably benign	Het
Spta1	T	A	1: 174,045,460 (GRCm39)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,615 (GRCm39)	S104A	probably damaging	Het
Stk38	C	A	17: 29,211,390 (GRCm39)		probably null	Het
Stx6	T	C	1: 155,049,909 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,912,040 (GRCm39)	T230I	probably benign	Het
Thrsp	A	G	7: 97,066,709 (GRCm39)	M1T	probably null	Het
Tmem63b	A	T	17: 45,986,299 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,900,733 (GRCm39)		probably benign	Het
Tpd52l2	T	C	2: 181,143,852 (GRCm39)		probably null	Het
Trak1	A	G	9: 121,283,404 (GRCm39)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,167,745 (GRCm39)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,060,482 (GRCm39)	M1V	probably null	Het
Triobp	T	A	15: 78,857,876 (GRCm39)	I1159K	probably benign	Het
Unc45a	A	G	7: 79,976,045 (GRCm39)		probably benign	Het
Usb1	A	G	8: 96,060,085 (GRCm39)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,847,293 (GRCm39)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,579,670 (GRCm39)	K143R	probably benign	Het
Vmn2r75	T	C	7: 85,797,515 (GRCm39)	K766R	probably benign	Het
Xpo5	T	G	17: 46,552,433 (GRCm39)	C1089G	probably damaging	Het

Other mutations in Plekhn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Plekhn1	APN	4	156,307,820 (GRCm39)	missense	probably damaging	1.00
IGL00473:Plekhn1	APN	4	156,307,820 (GRCm39)	missense	probably damaging	1.00
IGL02104:Plekhn1	APN	4	156,306,865 (GRCm39)	missense	probably benign	0.25
IGL02122:Plekhn1	APN	4	156,308,313 (GRCm39)	critical splice donor site	probably null
IGL02210:Plekhn1	APN	4	156,308,106 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Plekhn1	UTSW	4	156,309,397 (GRCm39)	nonsense	probably null
PIT4366001:Plekhn1	UTSW	4	156,309,268 (GRCm39)	missense	probably damaging	0.99
R0123:Plekhn1	UTSW	4	156,312,700 (GRCm39)	missense	probably benign	0.13
R0134:Plekhn1	UTSW	4	156,312,700 (GRCm39)	missense	probably benign	0.13
R0225:Plekhn1	UTSW	4	156,312,700 (GRCm39)	missense	probably benign	0.13
R0282:Plekhn1	UTSW	4	156,312,780 (GRCm39)	splice site	probably benign
R0540:Plekhn1	UTSW	4	156,307,204 (GRCm39)	missense	possibly damaging	0.87
R0569:Plekhn1	UTSW	4	156,309,658 (GRCm39)	missense	probably damaging	1.00
R0656:Plekhn1	UTSW	4	156,309,821 (GRCm39)	missense	possibly damaging	0.55
R0798:Plekhn1	UTSW	4	156,312,720 (GRCm39)	missense	probably damaging	0.96
R0848:Plekhn1	UTSW	4	156,308,021 (GRCm39)	critical splice donor site	probably null
R1803:Plekhn1	UTSW	4	156,306,838 (GRCm39)	missense	probably benign	0.20
R2168:Plekhn1	UTSW	4	156,306,339 (GRCm39)	missense	probably damaging	0.99
R2356:Plekhn1	UTSW	4	156,307,158 (GRCm39)	missense	probably damaging	1.00
R2516:Plekhn1	UTSW	4	156,307,116 (GRCm39)	missense	probably damaging	1.00
R3746:Plekhn1	UTSW	4	156,310,051 (GRCm39)	missense	probably benign	0.00
R3818:Plekhn1	UTSW	4	156,309,990 (GRCm39)	missense	probably damaging	1.00
R3902:Plekhn1	UTSW	4	156,310,126 (GRCm39)	missense	possibly damaging	0.75
R4024:Plekhn1	UTSW	4	156,309,207 (GRCm39)	missense	probably damaging	1.00
R4057:Plekhn1	UTSW	4	156,309,150 (GRCm39)	splice site	probably null
R4176:Plekhn1	UTSW	4	156,306,258 (GRCm39)	missense	probably benign	0.02
R4402:Plekhn1	UTSW	4	156,309,813 (GRCm39)	missense	probably damaging	1.00
R4405:Plekhn1	UTSW	4	156,309,730 (GRCm39)	splice site	probably null
R4477:Plekhn1	UTSW	4	156,307,856 (GRCm39)	missense	probably damaging	1.00
R4515:Plekhn1	UTSW	4	156,309,988 (GRCm39)	missense	probably damaging	1.00
R4517:Plekhn1	UTSW	4	156,309,988 (GRCm39)	missense	probably damaging	1.00
R4518:Plekhn1	UTSW	4	156,309,988 (GRCm39)	missense	probably damaging	1.00
R5086:Plekhn1	UTSW	4	156,306,881 (GRCm39)	missense	probably benign	0.00
R5092:Plekhn1	UTSW	4	156,309,222 (GRCm39)	missense	possibly damaging	0.93
R5201:Plekhn1	UTSW	4	156,314,984 (GRCm39)	missense	probably benign	0.00
R5896:Plekhn1	UTSW	4	156,308,331 (GRCm39)	missense	probably benign	0.02
R5913:Plekhn1	UTSW	4	156,307,152 (GRCm39)	missense	probably damaging	1.00
R6124:Plekhn1	UTSW	4	156,309,696 (GRCm39)	missense	possibly damaging	0.87
R6244:Plekhn1	UTSW	4	156,315,015 (GRCm39)	splice site	probably null
R6263:Plekhn1	UTSW	4	156,309,650 (GRCm39)	critical splice donor site	probably null
R6430:Plekhn1	UTSW	4	156,306,261 (GRCm39)	missense	probably benign	0.00
R6703:Plekhn1	UTSW	4	156,309,250 (GRCm39)	missense	probably benign	0.00
R6723:Plekhn1	UTSW	4	156,309,026 (GRCm39)	missense	probably damaging	1.00
R6741:Plekhn1	UTSW	4	156,306,249 (GRCm39)	missense	probably damaging	0.98
R7057:Plekhn1	UTSW	4	156,318,374 (GRCm39)	missense	probably damaging	0.99
R7135:Plekhn1	UTSW	4	156,307,792 (GRCm39)	missense	probably benign	0.04
R7347:Plekhn1	UTSW	4	156,307,128 (GRCm39)	missense	probably benign	0.00
R7408:Plekhn1	UTSW	4	156,318,418 (GRCm39)	missense	probably benign	0.14
R7423:Plekhn1	UTSW	4	156,315,142 (GRCm39)	missense	probably benign	0.15
R7500:Plekhn1	UTSW	4	156,317,771 (GRCm39)	missense	probably benign	0.19
R7613:Plekhn1	UTSW	4	156,309,277 (GRCm39)	missense	probably benign	0.00
R7626:Plekhn1	UTSW	4	156,310,110 (GRCm39)	missense	probably benign	0.00
R7738:Plekhn1	UTSW	4	156,316,691 (GRCm39)	missense	probably damaging	1.00
R8065:Plekhn1	UTSW	4	156,312,697 (GRCm39)	missense	possibly damaging	0.75
R8067:Plekhn1	UTSW	4	156,312,697 (GRCm39)	missense	possibly damaging	0.75
R8744:Plekhn1	UTSW	4	156,318,364 (GRCm39)	missense	probably damaging	1.00
R8746:Plekhn1	UTSW	4	156,316,682 (GRCm39)	missense	probably damaging	1.00
R8839:Plekhn1	UTSW	4	156,307,046 (GRCm39)	intron	probably benign
R8841:Plekhn1	UTSW	4	156,316,655 (GRCm39)	missense	probably damaging	0.98
R8900:Plekhn1	UTSW	4	156,310,078 (GRCm39)	missense	possibly damaging	0.87
R9208:Plekhn1	UTSW	4	156,306,859 (GRCm39)	missense	possibly damaging	0.86
R9723:Plekhn1	UTSW	4	156,306,875 (GRCm39)	missense	probably benign	0.00
X0023:Plekhn1	UTSW	4	156,306,811 (GRCm39)	missense	possibly damaging	0.76
X0065:Plekhn1	UTSW	4	156,309,372 (GRCm39)	critical splice donor site	probably null
Z1176:Plekhn1	UTSW	4	156,307,888 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- ATTTGAATCCCTCCAAGCAGACCAG -3'
(R):5'- TACGGGCCTCCTTTTCCAGAAAGC -3'

Sequencing Primer
(F):5'- AGGGATCACCCCAAGCTG -3'
(R):5'- CCTCGCTCAAGGGAAACAGG -3'

Posted On

2014-07-22