Mutagenetix > Incidental Mutation

Incidental Mutation 'R0111:Espnl'

20431

Institutional Source

Beutler Lab

Gene Symbol

Espnl

Ensembl Gene

ENSMUSG00000049515

Gene Name

espin-like

Synonyms

LOC227357

MMRRC Submission

038397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0111 (G1)

Quality Score

129

Status

Validated (trace)

Chromosome

Chromosomal Location

91249797-91276028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91272464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 608 (M608T)

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: M608T

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: M608T

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: M564T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: M564T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 56,124,073 (GRCm39)	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,761,738 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,606,743 (GRCm39)		probably benign	Het
Asic1	T	C	15: 99,594,864 (GRCm39)	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157 (GRCm39)	D101V	probably damaging	Het
Cdh2	A	T	18: 16,907,566 (GRCm39)	N57K	probably benign	Het
Clec4d	C	A	6: 123,245,006 (GRCm39)	Y95*	probably null	Het
Cracr2a	A	G	6: 127,581,024 (GRCm39)	T67A	probably benign	Het
Dennd5a	A	T	7: 109,533,961 (GRCm39)	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,507,843 (GRCm39)	D3076G	probably benign	Het
Fam149a	C	T	8: 45,794,183 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,454,339 (GRCm39)	V1884A	probably damaging	Het
Helz2	A	C	2: 180,879,595 (GRCm39)	S674R	probably benign	Het
Hoxa2	T	G	6: 52,141,467 (GRCm39)		probably null	Het
Ifi47	T	A	11: 48,986,897 (GRCm39)	N221K	probably damaging	Het
Ipo9	A	G	1: 135,333,662 (GRCm39)	V340A	probably damaging	Het
Kalrn	A	T	16: 33,851,960 (GRCm39)	N373K	probably damaging	Het
Kif26a	T	C	12: 112,129,771 (GRCm39)		probably benign	Het
Kiss1r	A	G	10: 79,754,523 (GRCm39)	T6A	possibly damaging	Het
Lama1	A	T	17: 68,044,493 (GRCm39)	I131F	probably damaging	Het
Nefm	T	C	14: 68,361,991 (GRCm39)	D91G	probably benign	Het
Nos3	C	T	5: 24,577,702 (GRCm39)	T572I	probably damaging	Het
Notch2	T	C	3: 98,046,077 (GRCm39)	F1710L	probably benign	Het
Or13e8	T	C	4: 43,696,648 (GRCm39)	N175S	probably damaging	Het
Or6c6c	T	A	10: 129,541,146 (GRCm39)	I133N	probably damaging	Het
Ostm1	T	C	10: 42,555,254 (GRCm39)	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,462,651 (GRCm39)	Y1445*	probably null	Het
Pde1b	T	C	15: 103,411,940 (GRCm39)	S14P	probably benign	Het
Pitpna	T	C	11: 75,516,310 (GRCm39)	V265A	probably benign	Het
Plec	G	T	15: 76,062,846 (GRCm39)	T2476K	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,493,808 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,533,717 (GRCm39)	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,728,629 (GRCm39)		probably benign	Het
Ptpn23	T	C	9: 110,214,691 (GRCm39)	D1570G	probably damaging	Het
Rab42	T	C	4: 132,029,676 (GRCm39)	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,438,737 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,414,983 (GRCm39)	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,778,443 (GRCm39)	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946 (GRCm39)	V772I	possibly damaging	Het
Scaper	A	G	9: 55,510,074 (GRCm39)	M654T	probably benign	Het
Shld2	T	C	14: 33,989,686 (GRCm39)	K407E	probably damaging	Het
Sipa1l3	G	A	7: 29,047,743 (GRCm39)	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,187,744 (GRCm39)	R162S	probably benign	Het
Spryd3	A	T	15: 102,036,972 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,166 (GRCm39)	F66L	probably benign	Het
Tent5c	T	C	3: 100,380,102 (GRCm39)	D218G	probably damaging	Het
Thap2	T	C	10: 115,208,532 (GRCm39)	N196S	probably benign	Het
Themis2	C	A	4: 132,517,236 (GRCm39)	R88L	probably benign	Het
Trip12	A	T	1: 84,736,854 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,528,437 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,892,624 (GRCm39)	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,435,022 (GRCm39)	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,117,525 (GRCm39)	D604G	probably damaging	Het
Wdr90	A	G	17: 26,067,418 (GRCm39)		probably benign	Het
Xirp2	A	T	2: 67,338,722 (GRCm39)	N321I	probably damaging	Het
Zfp595	A	G	13: 67,468,984 (GRCm39)	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,491,139 (GRCm39)	H271L	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGATATTCACAGACGCACCAGG -3'
(R):5'- CAGATCAGGGGCAAACTCGAAGTTC -3'

Sequencing Primer
(F):5'- TCTTGTATACCTGGAGAAGCAG -3'
(R):5'- GAAGTTCCCCCGCAATGTC -3'

Posted On

2013-04-11