Mutagenetix > Incidental Mutation

Incidental Mutation 'R1863:Ehbp1l1'

204174

Institutional Source

Beutler Lab

Gene Symbol

Ehbp1l1

Ensembl Gene

ENSMUSG00000024937

Gene Name

EH domain binding protein 1-like 1

Synonyms

G430002G23Rik

MMRRC Submission

039886-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1863 (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 5767882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1140 (N1140K)

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: N1140K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: N1140K

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: 97.5%
3x: 96.9%
10x: 95.0%
20x: 90.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,527,746 (GRCm39)	S1015T	probably damaging	Het
Adamts10	T	A	17: 33,770,406 (GRCm39)		probably null	Het
Adgrv1	G	A	13: 81,711,685 (GRCm39)	T1097I	probably damaging	Het
Apeh	T	C	9: 107,969,302 (GRCm39)	Y274C	possibly damaging	Het
Apobec3	A	G	15: 79,782,068 (GRCm39)	D26G	possibly damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Asb18	C	T	1: 89,942,104 (GRCm39)	V66I	probably benign	Het
Cacna1i	G	A	15: 80,243,132 (GRCm39)	G430S	probably damaging	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Cadps	A	G	14: 12,505,796 (GRCm38)	V758A	probably benign	Het
Calhm3	A	G	19: 47,140,539 (GRCm39)	W185R	probably damaging	Het
Car5b	T	C	X: 162,774,369 (GRCm39)	D146G	probably damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cd300lg	T	G	11: 101,932,430 (GRCm39)	V5G	probably damaging	Het
Cd46	C	A	1: 194,765,931 (GRCm39)	G145C	probably damaging	Het
Chit1	T	C	1: 134,078,988 (GRCm39)	S433P	probably damaging	Het
Cntrl	G	A	2: 35,008,131 (GRCm39)	E182K	possibly damaging	Het
Col6a5	T	A	9: 105,817,400 (GRCm39)	M304L	unknown	Het
Cplane1	A	G	15: 8,258,077 (GRCm39)	I2108V	probably benign	Het
Cpxm2	C	T	7: 131,745,392 (GRCm39)		probably null	Het
Dbf4	G	A	5: 8,447,375 (GRCm39)	Q612*	probably null	Het
Dnah11	G	C	12: 118,027,587 (GRCm39)	Q1835E	possibly damaging	Het
Eps8l1	C	A	7: 4,468,359 (GRCm39)		probably benign	Het
Fbxl21	A	T	13: 56,674,876 (GRCm39)	I76L	probably benign	Het
Gcnt2	A	T	13: 41,014,577 (GRCm39)	K249N	possibly damaging	Het
Gm5819	A	G	18: 8,694,179 (GRCm39)	T35A	probably benign	Het
Gm8180	T	C	14: 44,021,139 (GRCm39)	E23G	probably benign	Het
Gorab	A	G	1: 163,231,131 (GRCm39)	F8L	probably damaging	Het
Hlf	A	G	11: 90,231,652 (GRCm39)	L274S	probably damaging	Het
Il15ra	T	A	2: 11,728,247 (GRCm39)	S137T	possibly damaging	Het
Krt78	A	T	15: 101,855,004 (GRCm39)	C936S	possibly damaging	Het
Lamb2	T	C	9: 108,358,583 (GRCm39)	S207P	probably benign	Het
Lce1a1	T	C	3: 92,554,118 (GRCm39)	S119G	unknown	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrp4	T	A	2: 91,328,708 (GRCm39)	L1536Q	probably benign	Het
Lrrc25	T	C	8: 71,070,596 (GRCm39)	S126P	possibly damaging	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Msantd5f6	A	T	4: 73,320,037 (GRCm39)	Y247*	probably null	Het
Mss51	C	T	14: 20,534,936 (GRCm39)	R278H	probably damaging	Het
Myom3	G	A	4: 135,505,348 (GRCm39)	M412I	probably benign	Het
Naa25	T	C	5: 121,573,611 (GRCm39)	V780A	probably benign	Het
Naip6	A	T	13: 100,437,067 (GRCm39)	F485L	probably benign	Het
Notch1	T	C	2: 26,359,962 (GRCm39)	Y1251C	probably damaging	Het
Npas3	A	G	12: 54,115,609 (GRCm39)	N826D	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2t47	T	C	11: 58,442,849 (GRCm39)	Y72C	probably benign	Het
Or4a74	A	T	2: 89,440,053 (GRCm39)	L131*	probably null	Het
Or4c35	A	T	2: 89,808,754 (GRCm39)	I211F	probably benign	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or6c66	T	C	10: 129,461,217 (GRCm39)	T238A	probably damaging	Het
Or8c8	T	G	9: 38,165,016 (GRCm39)	M101R	probably damaging	Het
Or8s16	G	T	15: 98,211,372 (GRCm39)	Q20K	probably benign	Het
Osbpl6	G	A	2: 76,415,402 (GRCm39)	R588H	probably damaging	Het
Pcdhb17	A	T	18: 37,619,164 (GRCm39)	D318V	probably benign	Het
Pcnx2	T	A	8: 126,545,525 (GRCm39)	E1162V	probably damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Ppl	T	C	16: 4,905,844 (GRCm39)	K1484E	possibly damaging	Het
Pramel7	T	C	2: 87,321,675 (GRCm39)	E120G	probably benign	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Prpf6	T	A	2: 181,249,967 (GRCm39)	D42E	possibly damaging	Het
Rbm5	C	T	9: 107,627,718 (GRCm39)	V408I	possibly damaging	Het
Rsrp1	G	T	4: 134,651,388 (GRCm39)	D51Y	unknown	Het
Sec22a	A	G	16: 35,168,088 (GRCm39)	M141T	probably damaging	Het
Spryd3	A	G	15: 102,026,094 (GRCm39)	S417P	probably benign	Het
Sptbn2	A	G	19: 4,782,713 (GRCm39)	M550V	possibly damaging	Het
Sugt1	C	T	14: 79,846,434 (GRCm39)	T157I	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tas2r122	A	T	6: 132,688,065 (GRCm39)	L276*	probably null	Het
Tbc1d14	G	A	5: 36,665,037 (GRCm39)	S231F	probably damaging	Het
Tenm3	T	A	8: 48,729,381 (GRCm39)	I1526F	probably benign	Het
Tgm2	C	T	2: 157,966,139 (GRCm39)	C505Y	probably damaging	Het
Thop1	T	C	10: 80,909,151 (GRCm39)	Y61H	probably damaging	Het
Ticam1	G	A	17: 56,578,436 (GRCm39)	H220Y	probably damaging	Het
Tle6	T	C	10: 81,427,755 (GRCm39)	D500G	possibly damaging	Het
Tm6sf2	T	A	8: 70,532,375 (GRCm39)	L345Q	probably damaging	Het
Tnxb	T	C	17: 34,889,848 (GRCm39)	C114R	probably damaging	Het
Topors	G	T	4: 40,262,149 (GRCm39)	C378*	probably null	Het
Ttc6	G	A	12: 57,760,881 (GRCm39)	G1544R	probably benign	Het
Vmn2r4	A	T	3: 64,314,410 (GRCm39)	N190K	probably benign	Het
Wdr70	C	A	15: 7,950,054 (GRCm39)	V447F	probably benign	Het
Xpa	A	G	4: 46,155,730 (GRCm39)		probably benign	Het
Xrcc1	T	C	7: 24,270,000 (GRCm39)	S474P	possibly damaging	Het
Zfp658	T	G	7: 43,223,323 (GRCm39)	F533V	possibly damaging	Het
Zfp799	G	A	17: 33,038,374 (GRCm39)	H631Y	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
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
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'- AATCAGCCCCAGGTTAGTGG -3'
(R):5'- GTCCCCGTAACTAAGCAAAGG -3'

Sequencing Primer
(F):5'- AACCCTACCTGGCTGCC -3'
(R):5'- GCTTTCTGGGGCCAAGGAAG -3'

Posted On

2014-06-23