Mutagenetix > Incidental Mutation

Incidental Mutation 'R3938:Plekhj1'

307289

Institutional Source

Beutler Lab

Gene Symbol

Plekhj1

Ensembl Gene

ENSMUSG00000035278

Gene Name

pleckstrin homology domain containing, family J member 1

Synonyms

9530063M10Rik

MMRRC Submission

040825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80631933-80634404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80633609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 76 (I76T)

Ref Sequence

ENSEMBL: ENSMUSP00000042334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036805] [ENSMUST00000105336] [ENSMUST00000127740] [ENSMUST00000147440] [ENSMUST00000148665] [ENSMUST00000219378] [ENSMUST00000150338] [ENSMUST00000219959] [ENSMUST00000218209] [ENSMUST00000149394] [ENSMUST00000151928]

AlphaFold

Q9D240

Predicted Effect

probably damaging
Transcript: ENSMUST00000036805
AA Change: I76T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278
AA Change: I76T

Domain	Start	End	E-Value	Type
PH	16	110	1.48e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105336

SMART Domains

Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
Pfam:DOT1	115	317	9.4e-86	PFAM
low complexity region	335	348	N/A	INTRINSIC
AT_hook	407	419	4.64e-1	SMART
low complexity region	437	447	N/A	INTRINSIC
coiled coil region	558	647	N/A	INTRINSIC
low complexity region	917	936	N/A	INTRINSIC
low complexity region	948	961	N/A	INTRINSIC
low complexity region	1084	1095	N/A	INTRINSIC
low complexity region	1145	1157	N/A	INTRINSIC
low complexity region	1186	1198	N/A	INTRINSIC
low complexity region	1436	1446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127740

Predicted Effect

probably benign
Transcript: ENSMUST00000138505

SMART Domains

Protein: ENSMUSP00000119492
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
low complexity region	24	43	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
low complexity region	73	87	N/A	INTRINSIC
low complexity region	92	137	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139461

Predicted Effect

probably benign
Transcript: ENSMUST00000147440

SMART Domains

Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
Blast:CactinC_cactus	41	67	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148665

SMART Domains

Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	219	8.29e-35	SMART
low complexity region	300	318	N/A	INTRINSIC
low complexity region	320	420	N/A	INTRINSIC
low complexity region	423	452	N/A	INTRINSIC
low complexity region	459	484	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000219378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218036

Predicted Effect

probably benign
Transcript: ENSMUST00000150338

SMART Domains

Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
Pfam:DOT1	1	100	3.4e-37	PFAM
low complexity region	118	131	N/A	INTRINSIC
AT_hook	190	202	4.64e-1	SMART
low complexity region	220	230	N/A	INTRINSIC
low complexity region	371	390	N/A	INTRINSIC
SCOP:d1fxkc_	396	441	1e-3	SMART
low complexity region	700	719	N/A	INTRINSIC
low complexity region	731	744	N/A	INTRINSIC
low complexity region	867	878	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
low complexity region	969	981	N/A	INTRINSIC
low complexity region	1020	1032	N/A	INTRINSIC
low complexity region	1041	1055	N/A	INTRINSIC
low complexity region	1060	1105	N/A	INTRINSIC
low complexity region	1157	1174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220093

Predicted Effect

probably benign
Transcript: ENSMUST00000218209

Predicted Effect

probably benign
Transcript: ENSMUST00000149394

SMART Domains

Protein: ENSMUSP00000127762
Gene: ENSMUSG00000061589

Domain	Start	End	E-Value	Type
low complexity region	24	36	N/A	INTRINSIC
low complexity region	65	77	N/A	INTRINSIC
low complexity region	315	325	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217735

Predicted Effect

probably benign
Transcript: ENSMUST00000151928

SMART Domains

Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211

Domain	Start	End	E-Value	Type
low complexity region	18	36	N/A	INTRINSIC
ZnF_U1	51	85	5.02e-9	SMART
ZnF_C2H2	54	78	1.23e1	SMART
CactinC_cactus	91	194	1.26e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220002

Meta Mutation Damage Score

0.7386

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,361,513 (GRCm39)	N659I	probably benign	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,621,536 (GRCm39)	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,209,870 (GRCm39)	T293I	probably benign	Het
Chd5	A	T	4: 152,461,512 (GRCm39)	T1275S	probably benign	Het
Chtf8	A	T	8: 107,612,537 (GRCm39)	M134K	probably benign	Het
Col11a2	A	T	17: 34,258,599 (GRCm39)		probably benign	Het
Cyp8b1	A	G	9: 121,744,684 (GRCm39)	V216A	probably benign	Het
Dnah8	C	T	17: 31,073,911 (GRCm39)	T4527M	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Erap1	T	A	13: 74,816,147 (GRCm39)	L92Q	probably damaging	Het
Exoc3l	G	T	8: 106,020,037 (GRCm39)	P296H	probably damaging	Het
Fcgbpl1	C	T	7: 27,853,719 (GRCm39)	P1561L	probably damaging	Het
Foxl3	A	T	5: 138,806,723 (GRCm39)	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,162 (GRCm39)	N133K	probably benign	Het
Itgax	G	T	7: 127,735,445 (GRCm39)	R504S	possibly damaging	Het
Itgb4	A	G	11: 115,896,752 (GRCm39)	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,735,838 (GRCm39)	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,596,983 (GRCm39)	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga1	G	T	17: 30,076,596 (GRCm39)	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,163,842 (GRCm39)	V466A	possibly damaging	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,531,342 (GRCm39)	L311P	probably damaging	Het
Nup205	A	G	6: 35,196,677 (GRCm39)	R1138G	probably damaging	Het
Nup54	A	G	5: 92,565,388 (GRCm39)	M443T	probably damaging	Het
Peak1	T	C	9: 56,167,649 (GRCm39)	E93G	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Poll	A	G	19: 45,546,857 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Pygm	A	T	19: 6,442,980 (GRCm39)	I556F	probably benign	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rcor3	G	T	1: 191,785,385 (GRCm39)	T361K	possibly damaging	Het
Robo4	A	G	9: 37,313,313 (GRCm39)		probably benign	Het
Rps15	T	C	10: 80,129,673 (GRCm39)	V96A	probably benign	Het
Rrm2	T	A	12: 24,759,431 (GRCm39)	N55K	probably damaging	Het
Shank2	T	C	7: 143,682,112 (GRCm39)	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,382,819 (GRCm39)	E3*	probably null	Het
Slc7a8	T	A	14: 54,973,298 (GRCm39)	E223V	probably benign	Het
Snx13	A	G	12: 35,194,096 (GRCm39)	K880E	probably benign	Het
Spinkl	T	G	18: 44,301,216 (GRCm39)	M41L	probably benign	Het
Srp54a	A	C	12: 55,136,042 (GRCm39)	N19T	probably benign	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Sytl1	G	A	4: 132,982,935 (GRCm39)	Q359*	probably null	Het
Tlr6	A	T	5: 65,110,938 (GRCm39)	F656L	probably damaging	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tmem45a2	C	T	16: 56,859,398 (GRCm39)	D278N	probably benign	Het
Trav7-1	T	C	14: 52,892,791 (GRCm39)		probably benign	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,779,882 (GRCm39)		probably benign	Het
Usp9y	C	T	Y: 1,313,741 (GRCm39)	M2188I	probably damaging	Het
Utrn	C	A	10: 12,625,774 (GRCm39)		probably null	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,524,390 (GRCm39)	Y59F	probably damaging	Het

Other mutations in Plekhj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Plekhj1	APN	10	80,632,436 (GRCm39)	splice site	probably null
IGL02523:Plekhj1	APN	10	80,633,683 (GRCm39)	splice site	probably null
PIT4403001:Plekhj1	UTSW	10	80,632,293 (GRCm39)	missense	unknown
R0016:Plekhj1	UTSW	10	80,632,250 (GRCm39)	missense	possibly damaging	0.90
R0288:Plekhj1	UTSW	10	80,632,444 (GRCm39)	missense	probably damaging	1.00
R1136:Plekhj1	UTSW	10	80,633,654 (GRCm39)	splice site	probably null
R2262:Plekhj1	UTSW	10	80,632,306 (GRCm39)	missense	probably benign	0.01
R3937:Plekhj1	UTSW	10	80,633,609 (GRCm39)	missense	probably damaging	0.99
R4938:Plekhj1	UTSW	10	80,633,609 (GRCm39)	missense	probably damaging	1.00
R7231:Plekhj1	UTSW	10	80,633,492 (GRCm39)	missense	probably damaging	0.96
R7546:Plekhj1	UTSW	10	80,633,748 (GRCm39)	missense	possibly damaging	0.52
R7782:Plekhj1	UTSW	10	80,634,179 (GRCm39)	unclassified	probably benign
R8429:Plekhj1	UTSW	10	80,632,304 (GRCm39)	missense	probably benign
R9627:Plekhj1	UTSW	10	80,633,494 (GRCm39)	missense	possibly damaging	0.95
RF018:Plekhj1	UTSW	10	80,632,471 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TATACACCCCACGTTCGCAG -3'
(R):5'- GAAGCTGGTGGTCAACTTCCTC -3'

Sequencing Primer
(F):5'- ACCTCTCTCAGTTGGGAACG -3'
(R):5'- GCTGGTGGTCAACTTCCTCTTTTAC -3'

Posted On

2015-04-17