Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02472:Espnl'

294772

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Espnl

Ensembl Gene

ENSMUSG00000049515

Gene Name

espin-like

Synonyms

LOC227357

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

91322075-91348306 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91340534 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 294 (P294L)

Ref Sequence

ENSEMBL: ENSMUSP00000135828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088904] [ENSMUST00000176156]

Predicted Effect

probably benign
Transcript: ENSMUST00000088904
AA Change: P338L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: P338L

Domain	Start	End	E-Value	Type
Blast:ANK	1	33	4e-7	BLAST
ANK	35	64	5.21e1	SMART
ANK	69	102	2.88e2	SMART
ANK	103	132	3.85e-2	SMART
ANK	136	166	7.08e-1	SMART
ANK	170	200	1.02e-1	SMART
ANK	204	232	3.04e0	SMART
ANK	238	267	5.01e-1	SMART
ANK	270	299	1.96e-3	SMART
ANK	303	332	3.21e1	SMART
low complexity region	336	345	N/A	INTRINSIC
coiled coil region	509	538	N/A	INTRINSIC
low complexity region	820	833	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176156
AA Change: P294L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: P294L

Domain	Start	End	E-Value	Type
Blast:ANK	1	33	5e-7	BLAST
ANK	35	64	5.21e1	SMART
ANK	69	102	2.88e2	SMART
ANK	103	132	3.85e-2	SMART
ANK	136	166	7.08e-1	SMART
ANK	170	200	1.02e-1	SMART
ANK	204	232	3.04e0	SMART
ANK	238	267	5.01e-1	SMART
low complexity region	292	301	N/A	INTRINSIC
coiled coil region	465	494	N/A	INTRINSIC
low complexity region	776	789	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	A	G	15: 76,950,378	N158S	probably damaging	Het
Ankrd17	A	C	5: 90,264,151	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,954,239	T267I	probably damaging	Het
Becn1	C	T	11: 101,291,398	G115D	probably benign	Het
Cd3eap	T	C	7: 19,359,105	D50G	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd6	A	C	2: 160,984,452		probably benign	Het
Col22a1	A	G	15: 71,827,753		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnm2	A	G	9: 21,485,708	I494V	possibly damaging	Het
Dock2	T	A	11: 34,249,801	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,884,883	H339R	probably benign	Het
Ftmt	T	A	18: 52,331,840	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,676,459		probably benign	Het
Hadhb	T	A	5: 30,184,063	M468K	possibly damaging	Het
Hfm1	A	G	5: 106,873,928		probably benign	Het
Inpp5j	T	C	11: 3,495,338		probably benign	Het
Ipo7	T	A	7: 110,040,853	F288I	probably damaging	Het
Kcnv1	T	A	15: 45,109,123	K455*	probably null	Het
Kdm5a	A	G	6: 120,406,730		probably benign	Het
Kmt2d	G	A	15: 98,850,077	S3122F	probably benign	Het
Kndc1	A	G	7: 139,910,901	I440V	probably benign	Het
Mib2	T	A	4: 155,656,746	I545F	probably damaging	Het
Nav2	C	T	7: 49,546,041	P1055L	probably damaging	Het
Olfr111	C	A	17: 37,530,749	F257L	probably damaging	Het
Olfr1257	T	A	2: 89,881,411	I195N	probably benign	Het
Plch1	A	T	3: 63,701,849	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,921,862	I396V	possibly damaging	Het
Ryr1	A	T	7: 29,040,844	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,752,314	T80A	probably damaging	Het
Sema3f	C	T	9: 107,687,736	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,039,970		probably benign	Het
Siglec15	T	A	18: 78,043,617	K342N	possibly damaging	Het
Slc2a12	T	C	10: 22,665,155	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,580,142	V705A	probably benign	Het
Tenm4	T	C	7: 96,774,176		probably benign	Het
Tm6sf1	A	T	7: 81,875,824		probably benign	Het
Tmem245	T	C	4: 56,899,119	Y269C	probably damaging	Het
Txndc2	A	G	17: 65,637,976	I402T	possibly damaging	Het
Ube4b	A	G	4: 149,387,079		probably null	Het
Usp28	T	A	9: 49,037,769	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,409,752	I534V	probably benign	Het
Wdr89	A	T	12: 75,632,969	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,301,711	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Espnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Espnl	APN	1	91340611	nonsense	probably null
IGL01726:Espnl	APN	1	91344904	missense	probably benign
IGL02402:Espnl	APN	1	91344813	missense	probably benign	0.13
IGL02986:Espnl	APN	1	91344850	missense	probably benign	0.01
IGL03037:Espnl	APN	1	91341921	missense	probably benign	0.01
IGL03073:Espnl	APN	1	91344556	missense	probably damaging	0.99
R0111:Espnl	UTSW	1	91344742	missense	probably benign	0.29
R0197:Espnl	UTSW	1	91344489	missense	probably damaging	1.00
R0238:Espnl	UTSW	1	91322287	missense	probably damaging	0.97
R0239:Espnl	UTSW	1	91322287	missense	probably damaging	0.97
R0239:Espnl	UTSW	1	91322287	missense	probably damaging	0.97
R0665:Espnl	UTSW	1	91334687	splice site	probably null
R1772:Espnl	UTSW	1	91344603	missense	possibly damaging	0.61
R3804:Espnl	UTSW	1	91322221	missense	probably benign	0.00
R4352:Espnl	UTSW	1	91334721	missense	probably damaging	1.00
R4566:Espnl	UTSW	1	91344579	missense	possibly damaging	0.46
R4790:Espnl	UTSW	1	91344424	missense	probably damaging	1.00
R5234:Espnl	UTSW	1	91344793	missense	probably benign	0.02
R6430:Espnl	UTSW	1	91322248	missense	possibly damaging	0.75
R6652:Espnl	UTSW	1	91344699	missense	probably benign	0.13
R6785:Espnl	UTSW	1	91322221	missense	probably benign	0.00
R6800:Espnl	UTSW	1	91342629	missense	probably damaging	0.98
R7082:Espnl	UTSW	1	91334799	missense	probably benign	0.00
R7311:Espnl	UTSW	1	91323568	missense	probably damaging	0.98
R7376:Espnl	UTSW	1	91322314	missense	probably damaging	1.00
R7880:Espnl	UTSW	1	91344766	missense	possibly damaging	0.81
R8154:Espnl	UTSW	1	91325199	missense	possibly damaging	0.87
R8739:Espnl	UTSW	1	91344595	missense	probably damaging	0.96
Z1177:Espnl	UTSW	1	91323555	missense	probably damaging	1.00

Posted On

2015-04-16