Mutagenetix > Incidental Mutation

Incidental Mutation 'R7311:Espnl'

567558

Institutional Source

Beutler Lab

Gene Symbol

Espnl

Ensembl Gene

ENSMUSG00000049515

Gene Name

espin-like

Synonyms

LOC227357

MMRRC Submission

045367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7311 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91249797-91276028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91251290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 128 (H128Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027532] [ENSMUST00000088904] [ENSMUST00000176156]

AlphaFold

Q3UYR4

Predicted Effect

probably benign
Transcript: ENSMUST00000027532

SMART Domains

Protein: ENSMUSP00000027532
Gene: ENSMUSG00000026307

Domain	Start	End	E-Value	Type
Pfam:Aminotran_5	20	417	1.7e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000088904
AA Change: H128Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: H128Q

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

possibly damaging
Transcript: ENSMUST00000176156
AA Change: H128Q

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: H128Q

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,635,184 (GRCm39)	V118A	probably benign	Het
Accsl	C	T	2: 93,696,160 (GRCm39)	G146D	possibly damaging	Het
Acsm1	A	T	7: 119,237,305 (GRCm39)	H206L	probably damaging	Het
Acta2	A	G	19: 34,219,186 (GRCm39)	Y339H	probably damaging	Het
Adcy2	T	C	13: 68,779,073 (GRCm39)	D989G	probably damaging	Het
Ahnak	G	A	19: 8,979,507 (GRCm39)	A264T	probably benign	Het
Ahnak	A	G	19: 8,987,191 (GRCm39)	D2825G	possibly damaging	Het
Akt1	G	T	12: 112,623,587 (GRCm39)	T291K	probably damaging	Het
Arhgap24	A	G	5: 103,040,551 (GRCm39)	D589G	probably damaging	Het
B4galnt3	G	A	6: 120,192,396 (GRCm39)	Q447*	probably null	Het
BC024063	C	T	10: 81,945,993 (GRCm39)	R538C	possibly damaging	Het
Bod1l	A	G	5: 41,951,676 (GRCm39)	S2912P	possibly damaging	Het
Bysl	A	G	17: 47,912,710 (GRCm39)	V360A	possibly damaging	Het
C1qb	A	G	4: 136,607,877 (GRCm39)	V162A	possibly damaging	Het
Ccdc57	G	A	11: 120,764,567 (GRCm39)	P736L	probably benign	Het
Cep290	T	A	10: 100,373,580 (GRCm39)	F1287I	probably damaging	Het
Cntn1	T	C	15: 92,130,156 (GRCm39)		probably null	Het
Col6a3	C	T	1: 90,750,013 (GRCm39)	G274R	probably damaging	Het
Cplane1	G	T	15: 8,210,399 (GRCm39)	V291F	probably damaging	Het
Cyb5r4	T	C	9: 86,937,835 (GRCm39)	C285R	probably damaging	Het
Cyp4f39	G	A	17: 32,708,629 (GRCm39)	C392Y	probably damaging	Het
Dcun1d3	A	T	7: 119,458,734 (GRCm39)	D100E	probably damaging	Het
Dhx58	A	T	11: 100,588,997 (GRCm39)	D516E	probably benign	Het
Dock5	T	A	14: 68,065,951 (GRCm39)	I351F	probably benign	Het
Elmod2	A	C	8: 84,046,041 (GRCm39)		probably null	Het
Endov	G	A	11: 119,398,077 (GRCm39)	A281T	probably benign	Het
Epyc	A	G	10: 97,485,562 (GRCm39)	M1V	probably null	Het
Fam20a	A	T	11: 109,565,454 (GRCm39)	C452*	probably null	Het
Fam241b	A	G	10: 61,944,733 (GRCm39)	V88A	probably damaging	Het
Fbxl9	A	G	8: 106,042,299 (GRCm39)		probably benign	Het
Fgd3	A	T	13: 49,450,166 (GRCm39)	S28T	possibly damaging	Het
Fmn1	C	A	2: 113,356,025 (GRCm39)	P920Q	unknown	Het
Gpr139	G	C	7: 118,744,089 (GRCm39)	D165E	probably benign	Het
Hoxb1	A	G	11: 96,257,927 (GRCm39)	T286A	possibly damaging	Het
Ifi204	T	A	1: 173,587,134 (GRCm39)	E174D	probably benign	Het
Igf2bp2	A	G	16: 21,880,632 (GRCm39)	I555T	possibly damaging	Het
Ighv1-85	A	G	12: 115,963,799 (GRCm39)	I67T	probably damaging	Het
Ihh	G	C	1: 74,990,306 (GRCm39)	P23R	unknown	Het
Irx2	T	C	13: 72,779,396 (GRCm39)	S227P	probably damaging	Het
Itga4	A	G	2: 79,086,526 (GRCm39)	I68V	probably benign	Het
Jsrp1	T	A	10: 80,647,906 (GRCm39)	T51S	probably benign	Het
Khdc4	T	C	3: 88,619,002 (GRCm39)	S569P	probably damaging	Het
Kifc2	G	T	15: 76,547,010 (GRCm39)	G306V	probably damaging	Het
L3mbtl2	T	A	15: 81,551,588 (GRCm39)	S85T	possibly damaging	Het
Lama1	T	C	17: 68,074,380 (GRCm39)	S944P		Het
Lama4	T	A	10: 38,902,631 (GRCm39)	C202S	probably damaging	Het
Morc3	G	A	16: 93,646,061 (GRCm39)	D218N	probably damaging	Het
Mrtfb	T	A	16: 13,223,718 (GRCm39)	Y866*	probably null	Het
Myorg	A	G	4: 41,498,577 (GRCm39)	I351T	probably damaging	Het
N4bp2l1	G	A	5: 150,496,389 (GRCm39)	T179I	probably damaging	Het
Narf	A	G	11: 121,139,976 (GRCm39)	E270G	probably benign	Het
Nsd2	A	G	5: 34,049,380 (GRCm39)	D1205G	probably damaging	Het
Or10x1	T	C	1: 174,196,759 (GRCm39)	V92A	probably benign	Het
Or5an11	T	C	19: 12,246,068 (GRCm39)	V158A	probably benign	Het
Parl	T	C	16: 20,106,625 (GRCm39)	T195A	probably benign	Het
Phrf1	A	G	7: 140,820,846 (GRCm39)	I158V	unknown	Het
Phtf1	T	C	3: 103,904,980 (GRCm39)	F543L	possibly damaging	Het
Plod2	T	A	9: 92,466,611 (GRCm39)	D190E	probably damaging	Het
Polr1a	G	T	6: 71,927,863 (GRCm39)	K871N	possibly damaging	Het
Ppp2r5a	A	T	1: 191,089,998 (GRCm39)	I252K	probably damaging	Het
Ptgir	T	A	7: 16,640,973 (GRCm39)	D88E	probably damaging	Het
Raly	T	C	2: 154,699,340 (GRCm39)	V48A	probably damaging	Het
Ripor1	T	A	8: 106,344,447 (GRCm39)	L527*	probably null	Het
Rnf213	T	C	11: 119,307,373 (GRCm39)	S678P		Het
Rpf1	T	A	3: 146,212,918 (GRCm39)	Q306L	probably benign	Het
Rpl14	T	C	9: 120,403,171 (GRCm39)	I122T	probably damaging	Het
Scn9a	C	A	2: 66,314,748 (GRCm39)	A1657S	possibly damaging	Het
Serpinb10	A	G	1: 107,474,477 (GRCm39)	Y213C	probably damaging	Het
Slc25a23	A	G	17: 57,359,827 (GRCm39)	L308P	probably damaging	Het
Smg9	T	A	7: 24,120,058 (GRCm39)	M387K	probably benign	Het
Socs3	G	A	11: 117,858,614 (GRCm39)	P148L	probably benign	Het
Susd3	A	G	13: 49,401,906 (GRCm39)	L14P	probably benign	Het
Syt14	T	A	1: 192,662,858 (GRCm39)	M80L	probably benign	Het
Tmprss2	T	A	16: 97,369,616 (GRCm39)	Y386F	possibly damaging	Het
Tmx3	T	A	18: 90,558,195 (GRCm39)	S416T	probably benign	Het
Treh	A	G	9: 44,597,245 (GRCm39)	T555A	probably benign	Het
Ttc5	T	G	14: 51,003,400 (GRCm39)	Q428P	probably damaging	Het
Vmn2r73	A	G	7: 85,521,192 (GRCm39)	S259P	possibly damaging	Het
Vps4b	A	T	1: 106,719,434 (GRCm39)	V38E	probably damaging	Het
Wdr83	C	A	8: 85,802,890 (GRCm39)	R177L	probably benign	Het
Zfp780b	A	G	7: 27,662,588 (GRCm39)	F656L	possibly damaging	Het
Zfp995	A	T	17: 22,099,641 (GRCm39)	F198I	probably benign	Het
Zswim8	A	T	14: 20,771,552 (GRCm39)	Y1495F	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
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
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'- GTCAGGGTGTTCCTTCAGTC -3'
(R):5'- ACCAGCATGTCTTCCTGTG -3'

Sequencing Primer
(F):5'- CCTTCAGTCTCAGTAGGGGG -3'
(R):5'- GTGCTTCCCCTCTGTGAAG -3'

Posted On

2019-06-26