Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02824:Ehbp1l1'

361115

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 #

IGL02824

Quality Score

Status

Chromosome

Chromosomal Location

5757404-5776345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5769326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 659 (D659G)

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: D659G

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

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: D659G

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	C	4: 122,596,112 (GRCm39)		probably benign	Het
Aadat	A	T	8: 60,969,056 (GRCm39)	K93N	probably benign	Het
Abcb5	A	G	12: 118,854,420 (GRCm39)	F832L	probably benign	Het
Abl1	A	T	2: 31,690,831 (GRCm39)	K783N	probably damaging	Het
Agxt2	A	G	15: 10,393,891 (GRCm39)	E423G	probably null	Het
Alkbh8	T	C	9: 3,368,021 (GRCm39)		probably null	Het
Ankrd36	T	C	11: 5,524,246 (GRCm39)	I171T	possibly damaging	Het
Ap1b1	G	T	11: 4,983,738 (GRCm39)	A664S	possibly damaging	Het
Cd19	T	C	7: 126,009,826 (GRCm39)	D446G	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,687,659 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,960,023 (GRCm39)		probably null	Het
F5	T	C	1: 164,021,916 (GRCm39)	S1464P	probably benign	Het
Fut9	T	C	4: 25,620,037 (GRCm39)	N259S	probably damaging	Het
Glb1l3	A	T	9: 26,761,405 (GRCm39)	I209N	probably damaging	Het
Gpd2	A	G	2: 57,254,339 (GRCm39)	E671G	probably null	Het
Heatr5b	T	C	17: 79,081,109 (GRCm39)	D1381G	probably damaging	Het
Ifi206	A	T	1: 173,309,438 (GRCm39)	I186K	possibly damaging	Het
Izumo1	A	G	7: 45,275,072 (GRCm39)	D236G	probably benign	Het
Klhl32	T	A	4: 24,682,237 (GRCm39)	R149*	probably null	Het
Lrrn1	T	C	6: 107,545,495 (GRCm39)	F431S	possibly damaging	Het
Man2b2	C	T	5: 36,979,195 (GRCm39)	V282I	probably benign	Het
Mboat2	A	G	12: 24,996,585 (GRCm39)	K164R	probably benign	Het
Mgarp	T	C	3: 51,296,508 (GRCm39)	T165A	probably damaging	Het
Midn	T	G	10: 79,989,486 (GRCm39)	I43S	possibly damaging	Het
Ndn	A	G	7: 61,998,582 (GRCm39)	I143V	possibly damaging	Het
Or6c69	T	C	10: 129,747,565 (GRCm39)	E194G	probably damaging	Het
Or8h9	T	C	2: 86,789,337 (GRCm39)	D155G	probably benign	Het
Pcnx4	T	C	12: 72,602,345 (GRCm39)	V278A	probably benign	Het
Prr30	A	G	14: 101,435,954 (GRCm39)	F203L	probably benign	Het
Scd4	T	C	19: 44,329,698 (GRCm39)	L223P	probably damaging	Het
Setdb1	T	C	3: 95,247,215 (GRCm39)		probably benign	Het
Smtn	A	G	11: 3,482,658 (GRCm39)	Y105H	probably damaging	Het
Spata19	A	G	9: 27,309,025 (GRCm39)	I54M	possibly damaging	Het
Syk	A	T	13: 52,777,319 (GRCm39)		probably benign	Het
Trim44	A	G	2: 102,230,540 (GRCm39)	F164L	possibly damaging	Het
Zfp503	C	T	14: 22,035,162 (GRCm39)	G585S	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
IGL03070:Ehbp1l1	APN	19	5,765,981 (GRCm39)	missense	probably benign	0.33
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

2015-12-18