Mutagenetix > Incidental Mutation

Incidental Mutation 'R0309:Ehbp1l1'

25157

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1l1

Ensembl Gene

ENSMUSG00000024937

Gene Name

EH domain binding protein 1-like 1

Synonyms

MMRRC Submission

038519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5707376-5726317 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5720570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 287 (E287G)

Ref Sequence

ENSEMBL: ENSMUSP00000037656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049295] [ENSMUST00000075606]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049295
AA Change: E287G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: E287G

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.2e-24	PFAM
low complexity region	245	256	N/A	INTRINSIC
low complexity region	276	291	N/A	INTRINSIC
internal_repeat_1	442	821	1.71e-12	PROSPERO
internal_repeat_1	833	1197	1.71e-12	PROSPERO
CH	1212	1310	3.55e-16	SMART
low complexity region	1316	1331	N/A	INTRINSIC
low complexity region	1426	1449	N/A	INTRINSIC
low complexity region	1471	1484	N/A	INTRINSIC
low complexity region	1493	1547	N/A	INTRINSIC
DUF3585	1552	1696	6.7e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075606

SMART Domains

Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.9e-25	PFAM
CH	268	366	3.55e-16	SMART
low complexity region	372	387	N/A	INTRINSIC
low complexity region	482	505	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	549	603	N/A	INTRINSIC
DUF3585	608	752	6.7e-59	SMART

Meta Mutation Damage Score

0.1033

Coding Region Coverage

1x: 98.7%
3x: 97.6%
10x: 94.3%
20x: 86.4%

Validation Efficiency

98% (125/127)

MGI Phenotype

PHENOTYPE: Homozygous knockout leads to a reduction in the length and density of small intestinal microvilli, severe anemia, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,376,259	D133G	possibly damaging	Het
Abcb4	A	C	5: 8,939,835	D796A	probably damaging	Het
Actg2	A	T	6: 83,519,914	V147E	probably damaging	Het
Adamts13	A	C	2: 26,986,989	T534P	probably damaging	Het
Ago1	T	C	4: 126,443,166	T249A	probably benign	Het
Ahnak	T	A	19: 9,002,495	I381N	probably damaging	Het
Akap9	A	G	5: 4,069,038	D3515G	probably benign	Het
Angptl3	T	C	4: 99,034,469	V249A	probably benign	Het
Ank	A	G	15: 27,567,572	T294A	possibly damaging	Het
Ank1	A	T	8: 23,104,809	H204L	probably damaging	Het
Apbb2	A	G	5: 66,310,988		probably benign	Het
Arhgap28	A	T	17: 67,901,429	S15T	probably benign	Het
Aspm	T	C	1: 139,482,511		probably benign	Het
Atp1a4	T	C	1: 172,234,987	E651G	probably damaging	Het
B3gnt2	A	T	11: 22,836,860	F109L	probably damaging	Het
Bpifb4	T	C	2: 153,959,683	F575L	probably damaging	Het
Calr	C	A	8: 84,843,031	K322N	probably benign	Het
Ccdc188	T	C	16: 18,219,305	S247P	possibly damaging	Het
Cdr1	T	A	X: 61,185,302	D86V	unknown	Het
Cep97	C	T	16: 55,925,058	V48I	probably damaging	Het
Chaf1b	T	A	16: 93,884,511	C6S	probably damaging	Het
Chd3	C	T	11: 69,357,018	D920N	probably damaging	Het
Clk1	T	C	1: 58,413,033		probably benign	Het
Cntnap3	T	A	13: 64,757,436		probably benign	Het
Col12a1	T	A	9: 79,600,011		probably null	Het
Col17a1	G	T	19: 47,671,362		probably benign	Het
Coq7	T	A	7: 118,529,717	I32F	possibly damaging	Het
Cox6a2	A	T	7: 128,205,935	F59I	probably damaging	Het
Cpq	A	G	15: 33,594,151	D436G	probably damaging	Het
Ctso	G	A	3: 81,944,861		probably null	Het
Cxadr	A	T	16: 78,334,948	H274L	probably benign	Het
Cyp2c40	A	T	19: 39,778,051	C367S	possibly damaging	Het
Cyp2c70	T	G	19: 40,160,671	M344L	possibly damaging	Het
Defa35	G	A	8: 21,065,855	V77I	probably benign	Het
Dhx57	A	G	17: 80,274,881	Y432H	probably damaging	Het
Dhx9	A	T	1: 153,465,695	D601E	probably benign	Het
Dnah7a	C	G	1: 53,405,690	D3952H	probably damaging	Het
Dnah9	C	A	11: 66,026,972		probably benign	Het
Dstyk	C	A	1: 132,456,864		probably benign	Het
Efcab2	T	A	1: 178,475,904		probably benign	Het
Epgn	A	G	5: 91,032,214	T87A	probably benign	Het
Erc2	A	C	14: 28,141,225	E803A	probably damaging	Het
Fam26d	A	G	10: 34,044,047	W75R	probably damaging	Het
Fer	A	G	17: 64,139,016	*454W	probably null	Het
Glyr1	T	C	16: 5,031,972	D179G	probably damaging	Het
Gm12830	T	A	4: 114,844,976		probably benign	Het
Gm14085	A	T	2: 122,517,553	T253S	probably benign	Het
Gm9922	C	A	14: 101,729,693		probably benign	Het
Gsta3	C	T	1: 21,264,894	P200S	possibly damaging	Het
Hmgxb3	G	A	18: 61,155,128		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il16	T	C	7: 83,722,554	K15E	probably damaging	Het
Kcnip2	T	A	19: 45,794,075		probably benign	Het
Kdm4c	T	C	4: 74,345,567	V696A	probably benign	Het
Kdr	A	G	5: 75,946,927		probably benign	Het
Klhl33	T	G	14: 50,891,411	H787P	probably damaging	Het
Klk14	A	T	7: 43,694,345	T159S	probably benign	Het
Lancl2	A	G	6: 57,703,132	N16D	probably damaging	Het
Lemd3	T	C	10: 120,937,110	N583S	possibly damaging	Het
Map3k4	TGCTGGCTTCAGGGCCACAGTCCGCTG	TGCTG	17: 12,271,015		probably null	Het
Mpl	T	G	4: 118,446,038		probably benign	Het
Myh7b	T	C	2: 155,630,672		probably benign	Het
Mylk	A	C	16: 34,912,297		probably benign	Het
Myof	A	T	19: 37,981,266	M316K	probably benign	Het
Nfib	T	A	4: 82,296,737	N543I	probably damaging	Het
Nfix	A	G	8: 84,721,774	S375P	probably damaging	Het
Nkrf	T	C	X: 36,890,116	Q171R	probably damaging	Het
Nmnat2	T	A	1: 153,077,001		probably benign	Het
Npffr2	G	A	5: 89,583,347	E379K	probably benign	Het
Npr2	T	C	4: 43,640,904		probably benign	Het
Nup98	A	C	7: 102,152,428	D212E	probably null	Het
Nwd2	T	C	5: 63,807,218	Y1382H	probably damaging	Het
Ocstamp	T	C	2: 165,395,992	R451G	possibly damaging	Het
Olfr593	T	A	7: 103,212,721	I287K	probably damaging	Het
Olfr804	A	G	10: 129,705,139	D87G	probably benign	Het
Pabpc1	C	T	15: 36,597,493	A551T	possibly damaging	Het
Papd7	A	T	13: 69,499,932	V781E	possibly damaging	Het
Pard3	A	T	8: 127,376,897		probably benign	Het
Pcdhb12	G	T	18: 37,436,121	V107L	probably benign	Het
Pik3cd	A	T	4: 149,663,220	V22D	probably damaging	Het
Pkd1l2	A	G	8: 116,997,576	V2396A	probably damaging	Het
Pnpla7	T	C	2: 24,987,195	I167T	probably damaging	Het
Pphln1	A	T	15: 93,441,707	H114L	possibly damaging	Het
Ppm1h	A	G	10: 122,920,782	N444S	probably damaging	Het
Prdm9	G	A	17: 15,557,384	T146I	probably damaging	Het
Prrc2a	A	G	17: 35,150,915		probably benign	Het
Prrx1	T	C	1: 163,312,559	D26G	possibly damaging	Het
Ptpn5	T	C	7: 47,079,294	E495G	probably damaging	Het
Rab23	A	C	1: 33,734,861		probably null	Het
Ralgps1	C	T	2: 33,157,923	M348I	probably benign	Het
Ranbp2	A	G	10: 58,479,868	T2137A	probably benign	Het
Rapgef4	G	T	2: 72,226,030	G654V	probably benign	Het
Rc3h2	A	T	2: 37,379,008		probably benign	Het
Reg2	G	A	6: 78,406,186	A39T	possibly damaging	Het
Sema4d	C	A	13: 51,725,311	V7F	probably benign	Het
Sgip1	T	C	4: 102,915,157		probably benign	Het
Sgpl1	C	T	10: 61,113,437		probably null	Het
Shisa9	G	A	16: 11,997,123	V212M	probably damaging	Het
Shq1	G	A	6: 100,573,627	P450L	probably benign	Het
Sin3a	A	G	9: 57,110,912	T872A	probably benign	Het
Sipa1l3	C	T	7: 29,348,350	R1371Q	probably benign	Het
Skint8	T	C	4: 111,938,867	V246A	probably benign	Het
Slc22a20	A	T	19: 5,972,957	V386D	probably damaging	Het
Slc2a7	G	A	4: 150,158,071		probably benign	Het
Slc35a2	T	A	X: 7,889,662	Y48N	probably damaging	Het
Slc4a2	G	T	5: 24,434,346	S413I	probably damaging	Het
Sntg2	T	C	12: 30,226,773	T427A	probably benign	Het
Soat1	T	C	1: 156,442,453	Y132C	probably damaging	Het
Stn1	G	T	19: 47,501,673	H342N	probably benign	Het
Tarbp1	T	A	8: 126,438,928		probably benign	Het
Tas2r113	A	C	6: 132,893,378	K123T	probably damaging	Het
Tbck	C	T	3: 132,734,407	Q504*	probably null	Het
Tenm3	C	T	8: 48,341,034	C380Y	probably damaging	Het
Triobp	A	G	15: 78,976,540	D1389G	probably damaging	Het
Trpm4	A	T	7: 45,308,706	F780I	probably damaging	Het
Tubb4a	G	T	17: 57,081,182	Y281*	probably null	Het
Txndc15	T	C	13: 55,724,582	F261S	probably damaging	Het
Ube3b	T	C	5: 114,419,469		probably benign	Het
Unc5c	G	C	3: 141,733,933	V196L	probably benign	Het
Upf3a	G	A	8: 13,795,500		probably null	Het
Vmn2r20	T	C	6: 123,386,104	K574E	probably benign	Het
Vps50	A	G	6: 3,536,853	M275V	possibly damaging	Het
Xrcc5	A	G	1: 72,307,576		probably benign	Het
Zbtb18	T	C	1: 177,448,616	L505S	probably damaging	Het
Zbtb41	T	C	1: 139,438,984	I567T	probably damaging	Het
Zfp598	T	C	17: 24,678,584		probably benign	Het

Other mutations in Ehbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Ehbp1l1	APN	19	5717933	missense	probably benign	0.33
IGL01061:Ehbp1l1	APN	19	5717888	missense	probably benign
IGL01372:Ehbp1l1	APN	19	5715789	splice site	probably benign
IGL01790:Ehbp1l1	APN	19	5722984	missense	probably damaging	0.99
IGL01936:Ehbp1l1	APN	19	5718249	nonsense	probably null
IGL02194:Ehbp1l1	APN	19	5718857	missense	probably benign
IGL02347:Ehbp1l1	APN	19	5719572	missense	possibly damaging	0.72
IGL02372:Ehbp1l1	APN	19	5710834	missense	possibly damaging	0.53
IGL02681:Ehbp1l1	APN	19	5720825	missense	probably damaging	0.98
IGL02824:Ehbp1l1	APN	19	5719298	missense	probably benign
IGL03070:Ehbp1l1	APN	19	5715953	missense	probably benign	0.33
IGL03146:Ehbp1l1	APN	19	5720033	missense	probably benign	0.00
PIT4802001:Ehbp1l1	UTSW	19	5719575	missense	possibly damaging	0.93
R0787:Ehbp1l1	UTSW	19	5722668	missense	possibly damaging	0.95
R1156:Ehbp1l1	UTSW	19	5708336	unclassified	probably benign
R1337:Ehbp1l1	UTSW	19	5718230	missense	probably benign	0.00
R1474:Ehbp1l1	UTSW	19	5719084	missense	possibly damaging	0.86
R1501:Ehbp1l1	UTSW	19	5716424	missense	probably damaging	0.98
R1582:Ehbp1l1	UTSW	19	5721967	missense	possibly damaging	0.83
R1766:Ehbp1l1	UTSW	19	5716406	missense	probably damaging	0.98
R1838:Ehbp1l1	UTSW	19	5717691	missense	probably benign	0.39
R1842:Ehbp1l1	UTSW	19	5725930	missense	probably damaging	0.99
R1863:Ehbp1l1	UTSW	19	5717854	missense	probably benign	0.01
R1955:Ehbp1l1	UTSW	19	5710669	missense	possibly damaging	0.51
R2010:Ehbp1l1	UTSW	19	5719283	missense	probably benign
R2098:Ehbp1l1	UTSW	19	5708658	missense	possibly damaging	0.93
R2099:Ehbp1l1	UTSW	19	5718401	missense	possibly damaging	0.72
R2852:Ehbp1l1	UTSW	19	5716487	missense	probably damaging	0.99
R3113:Ehbp1l1	UTSW	19	5718980	missense	probably benign	0.38
R3799:Ehbp1l1	UTSW	19	5719115	missense	probably benign	0.33
R3891:Ehbp1l1	UTSW	19	5718312	missense	possibly damaging	0.73
R3964:Ehbp1l1	UTSW	19	5710573	critical splice donor site	probably null
R3966:Ehbp1l1	UTSW	19	5710573	critical splice donor site	probably null
R4335:Ehbp1l1	UTSW	19	5708769	missense	probably damaging	0.98
R4434:Ehbp1l1	UTSW	19	5716248	missense	possibly damaging	0.93
R4457:Ehbp1l1	UTSW	19	5716293	missense	possibly damaging	0.83
R4597:Ehbp1l1	UTSW	19	5717927	missense	possibly damaging	0.72
R4726:Ehbp1l1	UTSW	19	5719176	missense	possibly damaging	0.70
R4761:Ehbp1l1	UTSW	19	5719847	missense	possibly damaging	0.93
R4771:Ehbp1l1	UTSW	19	5725968	missense	probably damaging	1.00
R5402:Ehbp1l1	UTSW	19	5716320	missense	possibly damaging	0.91
R5436:Ehbp1l1	UTSW	19	5716248	missense	possibly damaging	0.93
R5602:Ehbp1l1	UTSW	19	5708670	missense	possibly damaging	0.85
R5893:Ehbp1l1	UTSW	19	5718431	missense	probably benign
R6329:Ehbp1l1	UTSW	19	5718767	missense	possibly damaging	0.53
R6416:Ehbp1l1	UTSW	19	5718757	missense	probably benign	0.01
R7106:Ehbp1l1	UTSW	19	5718737	missense	probably benign	0.33
R7262:Ehbp1l1	UTSW	19	5718446	nonsense	probably null
R7304:Ehbp1l1	UTSW	19	5716382	missense	probably damaging	1.00
R7317:Ehbp1l1	UTSW	19	5720702	missense	probably benign	0.44
R7404:Ehbp1l1	UTSW	19	5720844	missense	possibly damaging	0.72
R7447:Ehbp1l1	UTSW	19	5719428	missense	possibly damaging	0.53
R7862:Ehbp1l1	UTSW	19	5720823	missense	probably benign
R7881:Ehbp1l1	UTSW	19	5719398	missense	probably benign
R7910:Ehbp1l1	UTSW	19	5716424	missense	probably benign	0.28
R8239:Ehbp1l1	UTSW	19	5720061	missense	possibly damaging	0.53
R8309:Ehbp1l1	UTSW	19	5717075	missense	probably damaging	1.00
R8324:Ehbp1l1	UTSW	19	5719998	missense	possibly damaging	0.86
R8724:Ehbp1l1	UTSW	19	5715858	missense	possibly damaging	0.73
R9260:Ehbp1l1	UTSW	19	5719250	missense	probably benign	0.07
R9453:Ehbp1l1	UTSW	19	5708343	missense	unknown
RF053:Ehbp1l1	UTSW	19	5716002	small deletion	probably benign
Z1088:Ehbp1l1	UTSW	19	5716287	missense	possibly damaging	0.77
Z1176:Ehbp1l1	UTSW	19	5717889	missense	probably benign
Z1177:Ehbp1l1	UTSW	19	5718762	missense	probably damaging	0.99
Z1177:Ehbp1l1	UTSW	19	5719101	missense	probably benign	0.07
Z1177:Ehbp1l1	UTSW	19	5719102	missense	probably benign	0.01
Z1177:Ehbp1l1	UTSW	19	5719434	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACCTCAATGTCTGGTTCTGGCCTG -3'
(R):5'- TCACAATGCAGTCCTCAGTGTCCC -3'

Sequencing Primer
(F):5'- AGAAGAGCCCATTCCTGTTG -3'
(R):5'- CCTCAGTGTCCCCTCCC -3'

Posted On

2013-04-16