Mutagenetix > Incidental Mutation

Incidental Mutation 'R1337:Ehbp1l1'

156923

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1l1

Ensembl Gene

ENSMUSG00000024937

Gene Name

EH domain binding protein 1-like 1

Synonyms

G430002G23Rik

MMRRC Submission

039402-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1337 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5757404-5776345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5768258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1015 (M1015K)

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: M1015K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: M1015K

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,719,033 (GRCm39)	S37P	unknown	Het
Abca12	T	C	1: 71,333,978 (GRCm39)	I1175V	probably benign	Het
Ager	G	T	17: 34,819,596 (GRCm39)		probably null	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Cacna1c	A	G	6: 118,604,416 (GRCm39)	I1278T	probably damaging	Het
Casp8ap2	T	C	4: 32,645,721 (GRCm39)	V1598A	possibly damaging	Het
Cdk12	T	C	11: 98,136,497 (GRCm39)		probably null	Het
Ces2g	A	T	8: 105,690,597 (GRCm39)	Y126F	possibly damaging	Het
Engase	A	G	11: 118,373,400 (GRCm39)	T248A	possibly damaging	Het
Gsdma	C	T	11: 98,560,533 (GRCm39)	Q162*	probably null	Het
Hapln3	T	C	7: 78,767,824 (GRCm39)	E190G	probably benign	Het
Hdc	T	C	2: 126,458,196 (GRCm39)	Q42R	probably benign	Het
Larp1b	C	T	3: 40,987,837 (GRCm39)	P20S	probably damaging	Het
Macf1	T	G	4: 123,370,068 (GRCm39)	R1564S	probably benign	Het
Muc5b	A	G	7: 141,412,361 (GRCm39)	Y1769C	unknown	Het
Nup88	T	A	11: 70,835,716 (GRCm39)	Q576L	probably damaging	Het
Or51f1	T	C	7: 102,506,078 (GRCm39)	N137S	probably benign	Het
Or7g21	A	G	9: 19,033,099 (GRCm39)	I280V	probably benign	Het
Prune2	C	T	19: 17,096,971 (GRCm39)	S825L	possibly damaging	Het
Ryr3	C	A	2: 112,610,308 (GRCm39)	M2301I	possibly damaging	Het
Sdk2	A	C	11: 113,723,157 (GRCm39)	V1278G	possibly damaging	Het
Sertad3	T	C	7: 27,175,866 (GRCm39)	L100P	probably damaging	Het
Slco5a1	T	C	1: 13,009,366 (GRCm39)	T370A	probably benign	Het
Srrm1	A	G	4: 135,074,044 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,394,414 (GRCm39)	D121G	probably benign	Het
Ttc7	A	T	17: 87,597,724 (GRCm39)	R99W	probably damaging	Het
Xkr9	C	A	1: 13,771,348 (GRCm39)	S288Y	possibly damaging	Het
Zfp644	A	G	5: 106,785,420 (GRCm39)	S376P	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTTGCTTAGTTACGGGGACATC -3'
(R):5'- TTCAGAAGTCCCAGAGACAGACGC -3'

Sequencing Primer
(F):5'- CTTAGTTACGGGGACATCTAAGGC -3'
(R):5'- TTCCAGACTTGGAGGCTAAGATG -3'

Posted On

2014-02-11