Mutagenetix > Incidental Mutation

Incidental Mutation 'R6520:Plekha7'

521125

Institutional Source

Beutler Lab

Gene Symbol

Plekha7

Ensembl Gene

ENSMUSG00000045659

Gene Name

pleckstrin homology domain containing, family A member 7

Synonyms

A430081P20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R6520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115722720-115907611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115763717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000138544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000216517]

AlphaFold

Q3UIL6

Predicted Effect

probably benign
Transcript: ENSMUST00000084664
AA Change: V59A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: V59A

Domain	Start	End	E-Value	Type
Blast:PH	1	47	2e-23	BLAST
SCOP:d1kz7a2	18	69	1e-5	SMART
low complexity region	100	112	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	322	351	N/A	INTRINSIC
coiled coil region	461	500	N/A	INTRINSIC
coiled coil region	529	562	N/A	INTRINSIC
low complexity region	677	693	N/A	INTRINSIC
coiled coil region	828	856	N/A	INTRINSIC
low complexity region	947	959	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181981
AA Change: V190A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: V190A

Domain	Start	End	E-Value	Type
PH	59	178	1.42e-18	SMART
low complexity region	231	243	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	453	482	N/A	INTRINSIC
coiled coil region	592	631	N/A	INTRINSIC
coiled coil region	660	693	N/A	INTRINSIC
low complexity region	808	824	N/A	INTRINSIC
coiled coil region	959	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181998
AA Change: V295A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: V295A

Domain	Start	End	E-Value	Type
WW	9	41	4.51e-2	SMART
WW	54	86	7.79e-6	SMART
PH	164	283	1.42e-18	SMART
low complexity region	336	348	N/A	INTRINSIC
low complexity region	377	390	N/A	INTRINSIC
low complexity region	558	587	N/A	INTRINSIC
coiled coil region	697	736	N/A	INTRINSIC
coiled coil region	765	798	N/A	INTRINSIC
low complexity region	913	929	N/A	INTRINSIC
coiled coil region	1064	1092	N/A	INTRINSIC
low complexity region	1183	1195	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182443
AA Change: V213A

Predicted Effect

probably benign
Transcript: ENSMUST00000182487
AA Change: V295A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: V295A

Domain	Start	End	E-Value	Type
WW	9	41	4.51e-2	SMART
WW	54	86	7.79e-6	SMART
PH	164	283	1.42e-18	SMART
low complexity region	336	348	N/A	INTRINSIC
low complexity region	377	390	N/A	INTRINSIC
low complexity region	558	587	N/A	INTRINSIC
coiled coil region	697	736	N/A	INTRINSIC
coiled coil region	765	798	N/A	INTRINSIC
low complexity region	913	929	N/A	INTRINSIC
coiled coil region	1064	1092	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182511
AA Change: V233A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: V233A

Domain	Start	End	E-Value	Type
PH	102	221	1.42e-18	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
low complexity region	496	525	N/A	INTRINSIC
coiled coil region	635	674	N/A	INTRINSIC
coiled coil region	703	736	N/A	INTRINSIC
low complexity region	851	867	N/A	INTRINSIC
coiled coil region	1002	1030	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182549

Predicted Effect

probably benign
Transcript: ENSMUST00000182834
AA Change: V249A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: V249A

Domain	Start	End	E-Value	Type
PH	118	237	1.42e-18	SMART
low complexity region	290	302	N/A	INTRINSIC
low complexity region	331	344	N/A	INTRINSIC
low complexity region	512	541	N/A	INTRINSIC
coiled coil region	651	690	N/A	INTRINSIC
coiled coil region	719	752	N/A	INTRINSIC
low complexity region	867	883	N/A	INTRINSIC
coiled coil region	1018	1046	N/A	INTRINSIC
low complexity region	1137	1149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000216517
AA Change: V295A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206097

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele show decreased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,285 (GRCm39)	D116G	possibly damaging	Het
Adam22	C	T	5: 8,166,635 (GRCm39)	V699M	probably damaging	Het
Adh7	A	G	3: 137,929,771 (GRCm39)	Y149C	probably damaging	Het
Adissp	G	T	2: 130,989,174 (GRCm39)	H111N	probably damaging	Het
Angptl3	A	C	4: 98,926,085 (GRCm39)	N405T	probably benign	Het
Ank3	A	G	10: 69,824,217 (GRCm39)	H180R	probably damaging	Het
Apob	T	A	12: 8,033,124 (GRCm39)	I159N	probably damaging	Het
Arhgap24	T	C	5: 103,028,659 (GRCm39)	V185A	probably benign	Het
Atf6	A	T	1: 170,695,238 (GRCm39)	H11Q	probably benign	Het
Atxn3	C	A	12: 101,900,660 (GRCm39)	D208Y	probably damaging	Het
Brd9	G	A	13: 74,090,913 (GRCm39)	R273K	probably benign	Het
Cbfa2t3	T	A	8: 123,362,540 (GRCm39)	R302W	probably benign	Het
Ccdc175	C	A	12: 72,186,804 (GRCm39)	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,891,817 (GRCm39)	K770E	probably damaging	Het
Ccl17	T	C	8: 95,537,178 (GRCm39)	F27L	probably benign	Het
Cd3g	A	T	9: 44,882,613 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,809,082 (GRCm39)	V498A	probably benign	Het
Cfap45	A	G	1: 172,368,151 (GRCm39)	D381G	probably damaging	Het
Cfap46	A	G	7: 139,194,321 (GRCm39)		probably null	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Col23a1	T	C	11: 51,440,552 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,269,152 (GRCm39)	G933S	probably damaging	Het
Col5a3	C	T	9: 20,685,348 (GRCm39)	V1443I	unknown	Het
Col6a6	T	C	9: 105,663,024 (GRCm39)	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,851,759 (GRCm39)		probably null	Het
Dlk2	C	T	17: 46,613,438 (GRCm39)	T188I	probably damaging	Het
Dusp8	A	G	7: 141,637,418 (GRCm39)	I203T	probably damaging	Het
Eno2	C	T	6: 124,744,678 (GRCm39)	R56H	probably damaging	Het
Erich3	A	T	3: 154,469,102 (GRCm39)	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,255,906 (GRCm39)	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,776,701 (GRCm39)	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,175,814 (GRCm39)	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,236,641 (GRCm39)	D719N	probably damaging	Het
Fbn2	A	T	18: 58,235,462 (GRCm39)	S672T	probably damaging	Het
Gas8	C	G	8: 124,253,213 (GRCm39)	A187G	probably benign	Het
Gm2696	G	A	10: 77,672,332 (GRCm39)		probably benign	Het
Gnl1	A	T	17: 36,293,845 (GRCm39)	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466 (GRCm39)	K257Q	probably damaging	Het
Hgsnat	T	C	8: 26,443,328 (GRCm39)	Y474C	probably damaging	Het
Hoxc4	T	C	15: 102,943,380 (GRCm39)	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,496,218 (GRCm39)	L37Q	probably damaging	Het
Iqck	A	T	7: 118,540,854 (GRCm39)	K251M	probably damaging	Het
Itgal	A	T	7: 126,929,503 (GRCm39)	Q1140L	probably benign	Het
Itpka	A	G	2: 119,581,259 (GRCm39)	R431G	probably benign	Het
Jade1	A	G	3: 41,558,917 (GRCm39)	N333D	possibly damaging	Het
Jmjd7	A	G	2: 119,861,800 (GRCm39)	H181R	probably damaging	Het
Jmy	A	G	13: 93,590,547 (GRCm39)	S519P	probably benign	Het
Klra10	T	A	6: 130,252,755 (GRCm39)	H173L	probably benign	Het
Krt72	T	G	15: 101,689,481 (GRCm39)	I284L	probably benign	Het
Krt78	C	A	15: 101,860,206 (GRCm39)	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,314,451 (GRCm39)	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,555,855 (GRCm39)	M50R	probably damaging	Het
Mocos	T	A	18: 24,799,447 (GRCm39)	V227E	probably benign	Het
Mpeg1	A	G	19: 12,439,322 (GRCm39)	E260G	probably benign	Het
Mrc1	A	T	2: 14,312,760 (GRCm39)	N894I	probably damaging	Het
Mroh7	A	G	4: 106,578,460 (GRCm39)	S73P	probably benign	Het
Myo3a	A	T	2: 22,404,737 (GRCm39)	I690L	possibly damaging	Het
Naa50	T	G	16: 43,979,872 (GRCm39)	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,476,471 (GRCm39)	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,506,912 (GRCm39)	V396A	probably benign	Het
Nptn	A	G	9: 58,551,017 (GRCm39)	E348G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Or56b1b	A	G	7: 108,164,046 (GRCm39)	*319Q	probably null	Het
Or8d6	T	C	9: 39,853,658 (GRCm39)	I34T	possibly damaging	Het
Or8k36-ps1	A	G	2: 86,437,462 (GRCm39)	L151P	unknown	Het
Polq	C	A	16: 36,880,739 (GRCm39)	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,961,516 (GRCm39)	T143M	probably damaging	Het
Ptprc	G	A	1: 138,007,881 (GRCm39)	Q886*	probably null	Het
Rbp7	C	A	4: 149,537,371 (GRCm39)	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,698,698 (GRCm39)	N1065I	probably benign	Het
Scamp5	A	T	9: 57,354,489 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,316,118 (GRCm39)	S1698P	probably damaging	Het
Spr	C	A	6: 85,114,474 (GRCm39)	R85L	probably benign	Het
Sptlc2	A	C	12: 87,402,436 (GRCm39)	N163K	probably benign	Het
Stk10	C	T	11: 32,538,839 (GRCm39)	T226M	probably damaging	Het
Sv2c	A	G	13: 96,123,229 (GRCm39)	Y415H	probably benign	Het
Tet1	A	G	10: 62,715,792 (GRCm39)	M1T	probably null	Het
Tnnt1	T	A	7: 4,512,060 (GRCm39)	K150*	probably null	Het
Trappc10	C	T	10: 78,037,287 (GRCm39)	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155 (GRCm39)	N1131S	probably damaging	Het
Upk2	T	C	9: 44,364,803 (GRCm39)	E132G	probably damaging	Het
Vmn2r117	A	T	17: 23,679,193 (GRCm39)	V677D	probably damaging	Het
Vps13a	A	T	19: 16,702,943 (GRCm39)	L670H	probably damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp512	G	A	5: 31,623,984 (GRCm39)	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,716,891 (GRCm39)	N360K	probably damaging	Het

Other mutations in Plekha7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Plekha7	APN	7	115,734,419 (GRCm39)	missense	probably damaging	1.00
IGL01133:Plekha7	APN	7	115,744,476 (GRCm39)	splice site	probably null
IGL01146:Plekha7	APN	7	115,756,708 (GRCm39)	splice site	probably benign
IGL01307:Plekha7	APN	7	115,744,479 (GRCm39)	splice site	probably benign
IGL02063:Plekha7	APN	7	115,739,936 (GRCm39)	missense	possibly damaging	0.78
IGL02110:Plekha7	APN	7	115,753,863 (GRCm39)	splice site	probably null
IGL02420:Plekha7	APN	7	115,757,469 (GRCm39)	missense	probably damaging	1.00
IGL02660:Plekha7	APN	7	115,756,809 (GRCm39)	splice site	probably benign
IGL02851:Plekha7	APN	7	115,734,413 (GRCm39)	missense	probably damaging	1.00
Plexus	UTSW	7	115,747,559 (GRCm39)	missense	probably benign	0.07
R0614_Plekha7_947	UTSW	7	115,753,880 (GRCm39)	nonsense	probably null
R4750_Plekha7_499	UTSW	7	115,736,546 (GRCm39)	missense	probably damaging	1.00
R4810_Plekha7_997	UTSW	7	115,744,173 (GRCm39)	missense	probably damaging	1.00
Rhexis	UTSW	7	115,736,403 (GRCm39)	splice site	probably null
R0066:Plekha7	UTSW	7	115,756,743 (GRCm39)	missense	probably damaging	1.00
R0066:Plekha7	UTSW	7	115,756,743 (GRCm39)	missense	probably damaging	1.00
R0130:Plekha7	UTSW	7	115,769,939 (GRCm39)	missense	probably damaging	0.99
R0348:Plekha7	UTSW	7	115,757,255 (GRCm39)	missense	probably damaging	1.00
R0595:Plekha7	UTSW	7	115,744,203 (GRCm39)	missense	probably damaging	1.00
R0614:Plekha7	UTSW	7	115,753,880 (GRCm39)	nonsense	probably null
R0732:Plekha7	UTSW	7	115,744,472 (GRCm39)	missense	probably damaging	1.00
R1664:Plekha7	UTSW	7	115,734,269 (GRCm39)	splice site	probably null
R1695:Plekha7	UTSW	7	115,727,920 (GRCm39)	missense	probably damaging	1.00
R1794:Plekha7	UTSW	7	115,739,916 (GRCm39)	missense	probably damaging	1.00
R1895:Plekha7	UTSW	7	115,744,209 (GRCm39)	missense	probably damaging	1.00
R2153:Plekha7	UTSW	7	115,775,002 (GRCm39)	missense	probably damaging	1.00
R3106:Plekha7	UTSW	7	115,763,639 (GRCm39)	missense	probably benign	0.02
R3605:Plekha7	UTSW	7	115,763,477 (GRCm39)	missense	possibly damaging	0.68
R3606:Plekha7	UTSW	7	115,763,477 (GRCm39)	missense	possibly damaging	0.68
R3789:Plekha7	UTSW	7	115,774,969 (GRCm39)	missense	probably damaging	1.00
R4584:Plekha7	UTSW	7	115,836,768 (GRCm39)	intron	probably benign
R4750:Plekha7	UTSW	7	115,736,546 (GRCm39)	missense	probably damaging	1.00
R4774:Plekha7	UTSW	7	115,744,178 (GRCm39)	missense	probably damaging	1.00
R4810:Plekha7	UTSW	7	115,744,173 (GRCm39)	missense	probably damaging	1.00
R4895:Plekha7	UTSW	7	115,788,626 (GRCm39)	splice site	probably null
R4925:Plekha7	UTSW	7	115,757,363 (GRCm39)	missense	probably damaging	1.00
R5556:Plekha7	UTSW	7	115,763,384 (GRCm39)	missense	probably benign	0.20
R5599:Plekha7	UTSW	7	115,776,117 (GRCm39)	splice site	probably null
R5848:Plekha7	UTSW	7	115,739,634 (GRCm39)	missense	probably damaging	1.00
R5928:Plekha7	UTSW	7	115,727,809 (GRCm39)	missense	probably benign
R5941:Plekha7	UTSW	7	115,724,040 (GRCm39)	missense	possibly damaging	0.56
R6351:Plekha7	UTSW	7	115,776,133 (GRCm39)	missense	probably damaging	1.00
R6699:Plekha7	UTSW	7	115,734,410 (GRCm39)	missense	probably damaging	1.00
R6781:Plekha7	UTSW	7	115,757,090 (GRCm39)	critical splice donor site	probably null
R6843:Plekha7	UTSW	7	115,742,555 (GRCm39)	missense	probably benign	0.45
R6977:Plekha7	UTSW	7	115,735,202 (GRCm39)	missense	probably benign	0.01
R7048:Plekha7	UTSW	7	115,747,559 (GRCm39)	missense	probably benign	0.07
R7269:Plekha7	UTSW	7	115,780,447 (GRCm39)	missense	probably damaging	1.00
R7480:Plekha7	UTSW	7	115,736,403 (GRCm39)	splice site	probably null
R7520:Plekha7	UTSW	7	115,736,519 (GRCm39)	missense	possibly damaging	0.95
R7609:Plekha7	UTSW	7	115,763,681 (GRCm39)	missense	probably benign	0.25
R7680:Plekha7	UTSW	7	115,763,511 (GRCm39)	missense	probably benign	0.00
R7820:Plekha7	UTSW	7	115,836,715 (GRCm39)	missense	probably benign	0.12
R7989:Plekha7	UTSW	7	115,757,558 (GRCm39)	missense	probably benign	0.04
R8383:Plekha7	UTSW	7	115,744,154 (GRCm39)	missense	probably damaging	0.98
R8523:Plekha7	UTSW	7	115,907,164 (GRCm39)	missense	probably benign	0.01
R8863:Plekha7	UTSW	7	115,753,875 (GRCm39)	missense	probably damaging	1.00
R8920:Plekha7	UTSW	7	115,744,218 (GRCm39)	missense	probably benign	0.13
R8926:Plekha7	UTSW	7	115,756,223 (GRCm39)	splice site	probably benign
R9176:Plekha7	UTSW	7	115,739,926 (GRCm39)	missense	possibly damaging	0.94
R9576:Plekha7	UTSW	7	115,728,669 (GRCm39)	missense	possibly damaging	0.91
Z1177:Plekha7	UTSW	7	115,907,206 (GRCm39)	missense	probably damaging	1.00
Z1177:Plekha7	UTSW	7	115,739,898 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCCTCAGCTGGCAAGTATG -3'
(R):5'- CCGTAGTCCCATTTACACTGAGG -3'

Sequencing Primer
(F):5'- CTCAGCTGGCAAGTATGGGGAC -3'
(R):5'- CACTGAGGAGTGTGTCAGG -3'

Posted On

2018-06-06