Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02402:Espnl'

291914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Espnl

Ensembl Gene

ENSMUSG00000049515

Gene Name

espin-like

Synonyms

LOC227357

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02402

Quality Score

Status

Chromosome

Chromosomal Location

91249797-91276028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91272535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 632 (A632S)

Ref Sequence

ENSEMBL: ENSMUSP00000086294 (fasta)

Gene Model

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

AlphaFold

Q3UYR4

Predicted Effect

probably benign
Transcript: ENSMUST00000088904
AA Change: A632S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: A632S

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: A588S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: A588S

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
Adgrv1	A	G	13: 81,707,543 (GRCm39)	F568L	probably benign	Het
AW112010	T	A	19: 11,025,741 (GRCm39)		noncoding transcript	Het
Bbs4	A	T	9: 59,237,729 (GRCm39)	L205H	probably benign	Het
Bmal2	T	C	6: 146,711,266 (GRCm39)	V90A	possibly damaging	Het
C2cd2l	T	C	9: 44,227,878 (GRCm39)	K121R	probably benign	Het
Car14	A	G	3: 95,806,870 (GRCm39)	V198A	possibly damaging	Het
Cd22	G	T	7: 30,576,955 (GRCm39)	H117Q	possibly damaging	Het
Celf1	T	A	2: 90,829,068 (GRCm39)	I45N	probably damaging	Het
Cluh	T	C	11: 74,547,997 (GRCm39)	S103P	probably damaging	Het
Cyp39a1	T	A	17: 44,002,613 (GRCm39)	L276Q	probably benign	Het
Ddx27	T	G	2: 166,857,245 (GRCm39)		probably benign	Het
Defb4	A	T	8: 19,251,279 (GRCm39)	I49F	possibly damaging	Het
Dock8	C	A	19: 25,055,509 (GRCm39)	T157K	probably benign	Het
Dpp6	T	C	5: 27,839,541 (GRCm39)	V352A	probably damaging	Het
Elmo2	C	T	2: 165,139,312 (GRCm39)	E412K	probably damaging	Het
Eme1	G	A	11: 94,541,733 (GRCm39)	P30S	possibly damaging	Het
Gfod1	C	A	13: 43,354,211 (GRCm39)	A255S	probably benign	Het
Helz2	T	A	2: 180,872,704 (GRCm39)	K2432M	probably damaging	Het
Idua	T	C	5: 108,827,657 (GRCm39)	L157P	probably damaging	Het
Ifi207	T	A	1: 173,555,159 (GRCm39)	D848V	probably damaging	Het
Jag1	C	T	2: 136,927,858 (GRCm39)	S851N	possibly damaging	Het
Kat6b	T	A	14: 21,681,415 (GRCm39)	F571I	probably damaging	Het
Lrrc74b	G	A	16: 17,376,028 (GRCm39)		probably benign	Het
Mst1r	A	G	9: 107,794,026 (GRCm39)	K1160E	probably damaging	Het
Muc19	C	A	15: 91,778,192 (GRCm39)		noncoding transcript	Het
Nrg4	G	A	9: 55,135,198 (GRCm39)		probably benign	Het
Ociad1	T	C	5: 73,458,037 (GRCm39)	I12T	possibly damaging	Het
Or1o3	A	G	17: 37,574,111 (GRCm39)	V148A	possibly damaging	Het
Pold3	A	G	7: 99,749,618 (GRCm39)		probably benign	Het
Psmd5	T	C	2: 34,747,784 (GRCm39)	E291G	probably damaging	Het
Ptpn23	A	G	9: 110,222,781 (GRCm39)	V92A	possibly damaging	Het
Rab44	T	A	17: 29,359,490 (GRCm39)	H559Q	probably benign	Het
Rbm6	T	C	9: 107,730,051 (GRCm39)	D199G	probably damaging	Het
Rps18-ps3	C	T	8: 107,989,754 (GRCm39)		noncoding transcript	Het
Septin10	T	C	10: 59,006,758 (GRCm39)	T93A	probably benign	Het
Slmap	T	C	14: 26,184,865 (GRCm39)	T111A	probably damaging	Het
Spata25	C	T	2: 164,670,377 (GRCm39)	M1I	probably null	Het
Spink5	T	A	18: 44,100,171 (GRCm39)	C63S	probably damaging	Het
Sycp3	T	C	10: 88,302,425 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,177,567 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,891,716 (GRCm39)	N940K	probably benign	Het
Tmem106b	A	T	6: 13,081,600 (GRCm39)	Q169L	possibly damaging	Het
Trpm6	G	T	19: 18,764,120 (GRCm39)	C242F	probably benign	Het
Ush2a	T	A	1: 187,999,305 (GRCm39)	M205K	probably benign	Het
Utp18	A	C	11: 93,774,617 (GRCm39)		probably benign	Het

Other mutations in Espnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Espnl	APN	1	91,268,333 (GRCm39)	nonsense	probably null
IGL01726:Espnl	APN	1	91,272,626 (GRCm39)	missense	probably benign
IGL02472:Espnl	APN	1	91,268,256 (GRCm39)	missense	probably benign	0.02
IGL02986:Espnl	APN	1	91,272,572 (GRCm39)	missense	probably benign	0.01
IGL03037:Espnl	APN	1	91,269,643 (GRCm39)	missense	probably benign	0.01
IGL03073:Espnl	APN	1	91,272,278 (GRCm39)	missense	probably damaging	0.99
R0111:Espnl	UTSW	1	91,272,464 (GRCm39)	missense	probably benign	0.29
R0197:Espnl	UTSW	1	91,272,211 (GRCm39)	missense	probably damaging	1.00
R0238:Espnl	UTSW	1	91,250,009 (GRCm39)	missense	probably damaging	0.97
R0239:Espnl	UTSW	1	91,250,009 (GRCm39)	missense	probably damaging	0.97
R0239:Espnl	UTSW	1	91,250,009 (GRCm39)	missense	probably damaging	0.97
R0665:Espnl	UTSW	1	91,262,409 (GRCm39)	splice site	probably null
R1772:Espnl	UTSW	1	91,272,325 (GRCm39)	missense	possibly damaging	0.61
R3804:Espnl	UTSW	1	91,249,943 (GRCm39)	missense	probably benign	0.00
R4352:Espnl	UTSW	1	91,262,443 (GRCm39)	missense	probably damaging	1.00
R4566:Espnl	UTSW	1	91,272,301 (GRCm39)	missense	possibly damaging	0.46
R4790:Espnl	UTSW	1	91,272,146 (GRCm39)	missense	probably damaging	1.00
R5234:Espnl	UTSW	1	91,272,515 (GRCm39)	missense	probably benign	0.02
R6430:Espnl	UTSW	1	91,249,970 (GRCm39)	missense	possibly damaging	0.75
R6652:Espnl	UTSW	1	91,272,421 (GRCm39)	missense	probably benign	0.13
R6785:Espnl	UTSW	1	91,249,943 (GRCm39)	missense	probably benign	0.00
R6800:Espnl	UTSW	1	91,270,351 (GRCm39)	missense	probably damaging	0.98
R7082:Espnl	UTSW	1	91,262,521 (GRCm39)	missense	probably benign	0.00
R7311:Espnl	UTSW	1	91,251,290 (GRCm39)	missense	probably damaging	0.98
R7376:Espnl	UTSW	1	91,250,036 (GRCm39)	missense	probably damaging	1.00
R7880:Espnl	UTSW	1	91,272,488 (GRCm39)	missense	possibly damaging	0.81
R8154:Espnl	UTSW	1	91,252,921 (GRCm39)	missense	possibly damaging	0.87
R8739:Espnl	UTSW	1	91,272,317 (GRCm39)	missense	probably damaging	0.96
R9266:Espnl	UTSW	1	91,272,771 (GRCm39)	missense	probably benign	0.40
R9354:Espnl	UTSW	1	91,272,323 (GRCm39)	missense	probably benign	0.00
R9428:Espnl	UTSW	1	91,273,595 (GRCm39)	missense	probably damaging	1.00
R9798:Espnl	UTSW	1	91,251,286 (GRCm39)	missense	probably damaging	1.00
Z1177:Espnl	UTSW	1	91,251,277 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16