Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03070:Ehbp1l1'

417493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ehbp1l1

Ensembl Gene

ENSMUSG00000024937

Gene Name

EH domain binding protein 1-like 1

Synonyms

G430002G23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03070

Quality Score

Status

Chromosome

Chromosomal Location

5757404-5776345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5765981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1454 (V1454A)

Ref Sequence

ENSEMBL: ENSMUSP00000037656 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049295
AA Change: V1454A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: V1454A

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
AA Change: V510A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: V510A

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

Coding Region Coverage

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,193,800 (GRCm39)	E404G	probably damaging	Het
Arid1a	A	G	4: 133,422,064 (GRCm39)	S778P	unknown	Het
Asah2	A	T	19: 31,983,744 (GRCm39)	Y567N	probably damaging	Het
Crb1	G	T	1: 139,168,996 (GRCm39)	H841N	possibly damaging	Het
Eif3d	A	G	15: 77,843,843 (GRCm39)	L501P	probably damaging	Het
Fbxo4	A	T	15: 4,007,344 (GRCm39)	S107T	possibly damaging	Het
Galnt10	T	C	11: 57,616,408 (GRCm39)	Y108H	probably damaging	Het
Hspbap1	T	A	16: 35,639,096 (GRCm39)	D263E	probably damaging	Het
Kpna3	T	C	14: 61,608,231 (GRCm39)		probably benign	Het
Miox	A	G	15: 89,220,287 (GRCm39)	T160A	possibly damaging	Het
Mlxipl	G	A	5: 135,161,307 (GRCm39)	V409M	possibly damaging	Het
Mrps21	A	T	3: 95,777,897 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,230,834 (GRCm39)		probably benign	Het
Mup6	A	T	4: 60,003,999 (GRCm39)	I31F	probably damaging	Het
Or52s1	A	G	7: 102,861,904 (GRCm39)	H279R	probably benign	Het
Pabir1	A	C	19: 24,454,316 (GRCm39)	D135E	probably damaging	Het
Pgr	T	A	9: 8,903,665 (GRCm39)	I562N	possibly damaging	Het
Prag1	T	A	8: 36,570,703 (GRCm39)	W429R	probably benign	Het
Prrc2c	G	T	1: 162,504,978 (GRCm39)	P2621Q	probably damaging	Het
Psip1	T	G	4: 83,383,318 (GRCm39)	K232N	probably damaging	Het
Ryr1	T	C	7: 28,770,084 (GRCm39)	Y2663C	probably damaging	Het
Trhr2	T	A	8: 123,085,342 (GRCm39)	Q214L	probably benign	Het
Txndc11	A	T	16: 10,893,151 (GRCm39)	Y860N	probably damaging	Het
Uqcc6	A	T	10: 82,455,950 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,401,249 (GRCm39)		probably benign	Het
Yif1a	T	A	19: 5,138,757 (GRCm39)	H4Q	possibly damaging	Het

Other mutations in Ehbp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Ehbp1l1	APN	19	5,767,961 (GRCm39)	missense	probably benign	0.33
IGL01061:Ehbp1l1	APN	19	5,767,916 (GRCm39)	missense	probably benign
IGL01372:Ehbp1l1	APN	19	5,765,817 (GRCm39)	splice site	probably benign
IGL01790:Ehbp1l1	APN	19	5,773,012 (GRCm39)	missense	probably damaging	0.99
IGL01936:Ehbp1l1	APN	19	5,768,277 (GRCm39)	nonsense	probably null
IGL02194:Ehbp1l1	APN	19	5,768,885 (GRCm39)	missense	probably benign
IGL02347:Ehbp1l1	APN	19	5,769,600 (GRCm39)	missense	possibly damaging	0.72
IGL02372:Ehbp1l1	APN	19	5,760,862 (GRCm39)	missense	possibly damaging	0.53
IGL02681:Ehbp1l1	APN	19	5,770,853 (GRCm39)	missense	probably damaging	0.98
IGL02824:Ehbp1l1	APN	19	5,769,326 (GRCm39)	missense	probably benign
IGL03146:Ehbp1l1	APN	19	5,770,061 (GRCm39)	missense	probably benign	0.00
PIT4802001:Ehbp1l1	UTSW	19	5,769,603 (GRCm39)	missense	possibly damaging	0.93
R0309:Ehbp1l1	UTSW	19	5,770,598 (GRCm39)	missense	possibly damaging	0.72
R0787:Ehbp1l1	UTSW	19	5,772,696 (GRCm39)	missense	possibly damaging	0.95
R1156:Ehbp1l1	UTSW	19	5,758,364 (GRCm39)	unclassified	probably benign
R1337:Ehbp1l1	UTSW	19	5,768,258 (GRCm39)	missense	probably benign	0.00
R1474:Ehbp1l1	UTSW	19	5,769,112 (GRCm39)	missense	possibly damaging	0.86
R1501:Ehbp1l1	UTSW	19	5,766,452 (GRCm39)	missense	probably damaging	0.98
R1582:Ehbp1l1	UTSW	19	5,771,995 (GRCm39)	missense	possibly damaging	0.83
R1766:Ehbp1l1	UTSW	19	5,766,434 (GRCm39)	missense	probably damaging	0.98
R1838:Ehbp1l1	UTSW	19	5,767,719 (GRCm39)	missense	probably benign	0.39
R1842:Ehbp1l1	UTSW	19	5,775,958 (GRCm39)	missense	probably damaging	0.99
R1863:Ehbp1l1	UTSW	19	5,767,882 (GRCm39)	missense	probably benign	0.01
R1955:Ehbp1l1	UTSW	19	5,760,697 (GRCm39)	missense	possibly damaging	0.51
R2010:Ehbp1l1	UTSW	19	5,769,311 (GRCm39)	missense	probably benign
R2098:Ehbp1l1	UTSW	19	5,758,686 (GRCm39)	missense	possibly damaging	0.93
R2099:Ehbp1l1	UTSW	19	5,768,429 (GRCm39)	missense	possibly damaging	0.72
R2852:Ehbp1l1	UTSW	19	5,766,515 (GRCm39)	missense	probably damaging	0.99
R3113:Ehbp1l1	UTSW	19	5,769,008 (GRCm39)	missense	probably benign	0.38
R3799:Ehbp1l1	UTSW	19	5,769,143 (GRCm39)	missense	probably benign	0.33
R3891:Ehbp1l1	UTSW	19	5,768,340 (GRCm39)	missense	possibly damaging	0.73
R3964:Ehbp1l1	UTSW	19	5,760,601 (GRCm39)	critical splice donor site	probably null
R3966:Ehbp1l1	UTSW	19	5,760,601 (GRCm39)	critical splice donor site	probably null
R4335:Ehbp1l1	UTSW	19	5,758,797 (GRCm39)	missense	probably damaging	0.98
R4434:Ehbp1l1	UTSW	19	5,766,276 (GRCm39)	missense	possibly damaging	0.93
R4457:Ehbp1l1	UTSW	19	5,766,321 (GRCm39)	missense	possibly damaging	0.83
R4597:Ehbp1l1	UTSW	19	5,767,955 (GRCm39)	missense	possibly damaging	0.72
R4726:Ehbp1l1	UTSW	19	5,769,204 (GRCm39)	missense	possibly damaging	0.70
R4761:Ehbp1l1	UTSW	19	5,769,875 (GRCm39)	missense	possibly damaging	0.93
R4771:Ehbp1l1	UTSW	19	5,775,996 (GRCm39)	missense	probably damaging	1.00
R5402:Ehbp1l1	UTSW	19	5,766,348 (GRCm39)	missense	possibly damaging	0.91
R5436:Ehbp1l1	UTSW	19	5,766,276 (GRCm39)	missense	possibly damaging	0.93
R5602:Ehbp1l1	UTSW	19	5,758,698 (GRCm39)	missense	possibly damaging	0.85
R5893:Ehbp1l1	UTSW	19	5,768,459 (GRCm39)	missense	probably benign
R6329:Ehbp1l1	UTSW	19	5,768,795 (GRCm39)	missense	possibly damaging	0.53
R6416:Ehbp1l1	UTSW	19	5,768,785 (GRCm39)	missense	probably benign	0.01
R7106:Ehbp1l1	UTSW	19	5,768,765 (GRCm39)	missense	probably benign	0.33
R7262:Ehbp1l1	UTSW	19	5,768,474 (GRCm39)	nonsense	probably null
R7304:Ehbp1l1	UTSW	19	5,766,410 (GRCm39)	missense	probably damaging	1.00
R7317:Ehbp1l1	UTSW	19	5,770,730 (GRCm39)	missense	probably benign	0.44
R7404:Ehbp1l1	UTSW	19	5,770,872 (GRCm39)	missense	possibly damaging	0.72
R7447:Ehbp1l1	UTSW	19	5,769,456 (GRCm39)	missense	possibly damaging	0.53
R7862:Ehbp1l1	UTSW	19	5,770,851 (GRCm39)	missense	probably benign
R7881:Ehbp1l1	UTSW	19	5,769,426 (GRCm39)	missense	probably benign
R7910:Ehbp1l1	UTSW	19	5,766,452 (GRCm39)	missense	probably benign	0.28
R8239:Ehbp1l1	UTSW	19	5,770,089 (GRCm39)	missense	possibly damaging	0.53
R8309:Ehbp1l1	UTSW	19	5,767,103 (GRCm39)	missense	probably damaging	1.00
R8324:Ehbp1l1	UTSW	19	5,770,026 (GRCm39)	missense	possibly damaging	0.86
R8724:Ehbp1l1	UTSW	19	5,765,886 (GRCm39)	missense	possibly damaging	0.73
R9260:Ehbp1l1	UTSW	19	5,769,278 (GRCm39)	missense	probably benign	0.07
R9453:Ehbp1l1	UTSW	19	5,758,371 (GRCm39)	missense	unknown
RF053:Ehbp1l1	UTSW	19	5,766,030 (GRCm39)	small deletion	probably benign
Z1088:Ehbp1l1	UTSW	19	5,766,315 (GRCm39)	missense	possibly damaging	0.77
Z1176:Ehbp1l1	UTSW	19	5,767,917 (GRCm39)	missense	probably benign
Z1177:Ehbp1l1	UTSW	19	5,769,462 (GRCm39)	missense	probably benign	0.02
Z1177:Ehbp1l1	UTSW	19	5,769,130 (GRCm39)	missense	probably benign	0.01
Z1177:Ehbp1l1	UTSW	19	5,769,129 (GRCm39)	missense	probably benign	0.07
Z1177:Ehbp1l1	UTSW	19	5,768,790 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02