Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02372:Ehbp1l1'

290955

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 #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

5757404-5776345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5760862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1535 (T1535A)

Ref Sequence

ENSEMBL: ENSMUSP00000037656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049295] [ENSMUST00000052448] [ENSMUST00000075606]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049295
AA Change: T1535A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: T1535A

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: ENSMUST00000052448

SMART Domains

Protein: ENSMUSP00000051278
Gene: ENSMUSG00000024936

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Ion_trans_2	67	145	3.2e-14	PFAM
Pfam:Ion_trans_2	175	261	8.8e-12	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000075606
AA Change: T591A

SMART Domains

Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: T591A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alyref	A	G	11: 120,485,701 (GRCm39)		probably benign	Het
Ankrd27	A	G	7: 35,332,461 (GRCm39)		probably null	Het
Arc	A	G	15: 74,543,954 (GRCm39)	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,778,084 (GRCm39)	K150N	probably benign	Het
Atrn	T	C	2: 130,844,674 (GRCm39)		probably benign	Het
Ccnb1	A	G	13: 100,917,824 (GRCm39)	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,814,108 (GRCm39)	V1938A	probably benign	Het
Ckmt2	A	G	13: 92,013,343 (GRCm39)	V37A	probably benign	Het
Dpys	G	T	15: 39,656,667 (GRCm39)	P467T	probably benign	Het
Eif4enif1	T	C	11: 3,179,986 (GRCm39)	L302P	probably benign	Het
Faf1	T	G	4: 109,792,779 (GRCm39)	F584V	probably benign	Het
Glb1l2	G	A	9: 26,707,772 (GRCm39)	R72C	probably damaging	Het
Gm9892	T	C	8: 52,649,871 (GRCm39)		noncoding transcript	Het
Hecw1	G	T	13: 14,438,706 (GRCm39)	D892E	probably damaging	Het
Hr	A	G	14: 70,795,790 (GRCm39)	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,559,401 (GRCm39)	F297V	probably damaging	Het
Myc	A	G	15: 61,859,707 (GRCm39)	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613 (GRCm39)	N671K	probably benign	Het
Nup210l	C	A	3: 90,109,278 (GRCm39)	T1607N	possibly damaging	Het
Or8s8	A	T	15: 98,354,709 (GRCm39)	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,974,370 (GRCm39)	K22*	probably null	Het
Phf20l1	T	C	15: 66,513,650 (GRCm39)	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,186,537 (GRCm39)	R40W	probably damaging	Het
Pomt2	C	T	12: 87,169,609 (GRCm39)		probably benign	Het
Rab3gap1	A	G	1: 127,847,298 (GRCm39)		probably benign	Het
Sbk1	T	C	7: 125,890,230 (GRCm39)	L81P	probably damaging	Het
Scrib	G	A	15: 75,920,104 (GRCm39)	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,683,611 (GRCm39)	N240K	probably benign	Het
Smyd4	A	T	11: 75,281,111 (GRCm39)	K195*	probably null	Het
Spmap1	A	T	11: 97,666,525 (GRCm39)	Y54N	probably damaging	Het
Tulp3	A	T	6: 128,304,561 (GRCm39)	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,668,739 (GRCm39)		probably benign	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
IGL02681:Ehbp1l1	APN	19	5,770,853 (GRCm39)	missense	probably damaging	0.98
IGL02824:Ehbp1l1	APN	19	5,769,326 (GRCm39)	missense	probably benign
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

2015-04-16