Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01726:Espnl'

105264

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 #

IGL01726

Quality Score

Status

Chromosome

Chromosomal Location

91249797-91276028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91272626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 618 (D618G)

Ref Sequence

ENSEMBL: ENSMUSP00000135828 (fasta)

Gene Model

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

AlphaFold

Q3UYR4

Predicted Effect

probably benign
Transcript: ENSMUST00000088904
AA Change: D662G

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

SMART Domains

Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: D662G

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: D618G

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

SMART Domains

Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: D618G

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,638,147 (GRCm39)		probably null	Het
Arpc2	A	G	1: 74,287,338 (GRCm39)	T53A	probably benign	Het
Ccdc170	C	A	10: 4,499,713 (GRCm39)	L545M	probably benign	Het
Ccm2l	T	C	2: 152,922,821 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,810,391 (GRCm39)	N2166D	probably benign	Het
Clca4b	T	G	3: 144,634,103 (GRCm39)	D104A	probably damaging	Het
Clcnka	C	T	4: 141,120,051 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,551,518 (GRCm39)	N201K	probably damaging	Het
Cyp1a2	G	A	9: 57,589,485 (GRCm39)	L110F	possibly damaging	Het
Dhtkd1	T	C	2: 5,947,467 (GRCm39)	T6A	unknown	Het
Enthd1	A	C	15: 80,336,652 (GRCm39)	L594R	probably damaging	Het
Gm6096	A	T	7: 33,950,904 (GRCm39)	I148F	probably damaging	Het
Hsf5	C	T	11: 87,526,951 (GRCm39)	T541I	probably benign	Het
Il18r1	A	G	1: 40,537,563 (GRCm39)	S443G	possibly damaging	Het
Il1a	T	C	2: 129,146,640 (GRCm39)	D151G	possibly damaging	Het
Ints1	A	G	5: 139,754,166 (GRCm39)		probably benign	Het
Kcnh1	A	C	1: 192,188,164 (GRCm39)	D875A	possibly damaging	Het
Naip6	T	A	13: 100,439,760 (GRCm39)	I336F	probably benign	Het
Napepld	A	G	5: 21,880,657 (GRCm39)	F246S	possibly damaging	Het
Nova1	C	T	12: 46,760,280 (GRCm39)		probably null	Het
Nsa2	C	A	13: 97,268,525 (GRCm39)	A181S	probably damaging	Het
Ntn5	C	A	7: 45,343,671 (GRCm39)	R337S	probably damaging	Het
Nynrin	T	C	14: 56,101,611 (GRCm39)	S427P	probably benign	Het
Or52e5	A	G	7: 104,718,836 (GRCm39)	E54G	probably damaging	Het
Pcgf1	T	A	6: 83,055,867 (GRCm39)		probably null	Het
Pfn4	T	A	12: 4,824,446 (GRCm39)	L58I	probably benign	Het
Plekha1	C	A	7: 130,499,059 (GRCm39)	P116Q	probably damaging	Het
Pou5f2	T	C	13: 78,173,300 (GRCm39)	S81P	possibly damaging	Het
Prag1	A	G	8: 36,570,146 (GRCm39)	D243G	probably damaging	Het
Rbm26	G	A	14: 105,389,943 (GRCm39)	P227L	probably damaging	Het
Rgl1	A	T	1: 152,394,904 (GRCm39)	N756K	probably damaging	Het
Rhou	A	T	8: 124,380,880 (GRCm39)	T66S	possibly damaging	Het
Rspo3	A	T	10: 29,380,704 (GRCm39)	D103E	probably benign	Het
Rundc3b	T	C	5: 8,570,902 (GRCm39)	K306E	probably benign	Het
Slc25a32	A	G	15: 38,965,466 (GRCm39)		probably benign	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Tars3	A	G	7: 65,332,566 (GRCm39)	T556A	possibly damaging	Het
Tmem266	A	G	9: 55,342,486 (GRCm39)	K324E	probably benign	Het
Tnrc6c	T	C	11: 117,640,161 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,817,971 (GRCm39)	S452T	probably damaging	Het
Tspear	T	A	10: 77,717,121 (GRCm39)		probably benign	Het
Ttll5	T	G	12: 85,965,708 (GRCm39)	I571S	probably benign	Het
Ttn	T	C	2: 76,797,433 (GRCm39)	T544A	probably benign	Het
Ubn1	T	C	16: 4,891,334 (GRCm39)		probably null	Het
Ubr2	C	A	17: 47,303,907 (GRCm39)		probably benign	Het
Usp21	A	T	1: 171,111,574 (GRCm39)	W360R	probably damaging	Het
Vmn2r62	A	T	7: 42,414,526 (GRCm39)	L639H	probably damaging	Het
Zc3h7b	T	A	15: 81,656,000 (GRCm39)	I116N	possibly damaging	Het
Zfp618	C	T	4: 63,050,872 (GRCm39)	T551I	probably damaging	Het
Zfp804b	T	C	5: 7,230,707 (GRCm39)		probably benign	Het
Zkscan8	T	C	13: 21,704,973 (GRCm39)	H322R	probably benign	Het
Zwint	T	G	10: 72,493,019 (GRCm39)		probably null	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
IGL02402:Espnl	APN	1	91,272,535 (GRCm39)	missense	probably benign	0.13
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

2014-01-21