Incidental Mutation 'R1501:Ehbp1l1'
ID 169315
Institutional Source Beutler Lab
Gene Symbol Ehbp1l1
Ensembl Gene ENSMUSG00000024937
Gene Name EH domain binding protein 1-like 1
Synonyms G430002G23Rik
MMRRC Submission 040867-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1501 (G1)
Quality Score 157
Status Not validated
Chromosome 19
Chromosomal Location 5757404-5776345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5766452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 353 (V353A)
Ref Sequence ENSEMBL: ENSMUSP00000126740 (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: V1297A

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: V1297A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000075606
AA Change: V353A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: V353A

DomainStartEndE-ValueType
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: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,750,787 (GRCm39) S533R probably benign Het
Amph C T 13: 19,288,461 (GRCm39) Q317* probably null Het
Bach2 A G 4: 32,562,279 (GRCm39) T249A possibly damaging Het
Cacna2d3 A G 14: 28,703,137 (GRCm39) C845R probably damaging Het
Calml4 A G 9: 62,778,622 (GRCm39) K12E probably benign Het
Chrd C T 16: 20,556,283 (GRCm39) R615W probably damaging Het
Chst15 T A 7: 131,870,798 (GRCm39) K246* probably null Het
Cmtr2 G A 8: 110,948,235 (GRCm39) D182N probably benign Het
Cyp2d9 C A 15: 82,338,525 (GRCm39) C186* probably null Het
Cyp3a13 G T 5: 137,909,892 (GRCm39) probably null Het
Dcaf17 A T 2: 70,912,332 (GRCm39) I320F probably damaging Het
Ddx10 T C 9: 53,145,297 (GRCm39) I227V possibly damaging Het
Dlc1 G T 8: 37,405,302 (GRCm39) N162K probably benign Het
Dnhd1 G A 7: 105,317,670 (GRCm39) R455H probably benign Het
Drg2 G T 11: 60,355,679 (GRCm39) A306S probably benign Het
Dsg1a A T 18: 20,465,076 (GRCm39) R422S probably damaging Het
Emilin2 T C 17: 71,617,756 (GRCm39) S34G probably benign Het
Enpp2 C A 15: 54,702,910 (GRCm39) W862L probably damaging Het
Exoc2 T C 13: 31,119,485 (GRCm39) I139V probably benign Het
Fhad1 C T 4: 141,691,936 (GRCm39) R400H probably benign Het
Fv1 C T 4: 147,954,595 (GRCm39) T387M probably damaging Het
Gatad1 T A 5: 3,693,701 (GRCm39) D156V probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm4799 G A 10: 82,790,469 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,333,804 (GRCm39) F405S probably benign Het
Ifit3 T C 19: 34,565,651 (GRCm39) V399A probably benign Het
Il1rapl1 G T X: 86,348,469 (GRCm39) Y150* probably null Het
Kirrel1 T C 3: 86,997,779 (GRCm39) E248G probably benign Het
Krt72 C A 15: 101,686,769 (GRCm39) K392N probably damaging Het
Loxhd1 G A 18: 77,444,528 (GRCm39) G309D probably damaging Het
Mc3r T G 2: 172,091,300 (GRCm39) I174S probably benign Het
Me3 A G 7: 89,282,273 (GRCm39) D52G probably benign Het
Med12l T C 3: 59,168,256 (GRCm39) probably null Het
Mgat5 G A 1: 127,325,378 (GRCm39) probably null Het
Mphosph10 A T 7: 64,039,252 (GRCm39) F239L probably damaging Het
Mrps7 T C 11: 115,495,023 (GRCm39) S13P probably benign Het
Nexn T C 3: 151,943,323 (GRCm39) T527A possibly damaging Het
Nlrp1b G A 11: 71,046,885 (GRCm39) H1156Y probably damaging Het
Nostrin A G 2: 68,989,129 (GRCm39) E120G probably damaging Het
Nsun2 A G 13: 69,779,706 (GRCm39) E624G probably damaging Het
Oga T C 19: 45,767,079 (GRCm39) D99G probably null Het
Or4c102 G A 2: 88,422,492 (GRCm39) V115I possibly damaging Het
Or4k2 A G 14: 50,424,539 (GRCm39) I45T probably damaging Het
Or52n4b G A 7: 108,143,782 (GRCm39) V15I probably benign Het
Or5p70 A C 7: 107,995,289 (GRCm39) K321Q probably benign Het
Phldb2 T C 16: 45,598,146 (GRCm39) N802S probably damaging Het
Pik3c2g T C 6: 139,789,796 (GRCm39) probably null Het
Pikfyve T A 1: 65,304,443 (GRCm39) I1670N possibly damaging Het
Pld5 A G 1: 175,803,087 (GRCm39) F393L probably benign Het
Plekhg1 C A 10: 3,907,361 (GRCm39) D759E probably benign Het
Plekhm1 A G 11: 103,277,888 (GRCm39) S403P probably benign Het
Pop1 T C 15: 34,510,503 (GRCm39) F432L probably benign Het
Ptpn13 T C 5: 103,664,230 (GRCm39) I406T probably benign Het
Ptpn5 G T 7: 46,739,623 (GRCm39) D185E probably benign Het
Rad50 G T 11: 53,578,978 (GRCm39) Q527K possibly damaging Het
Scn7a A G 2: 66,530,507 (GRCm39) F613L probably benign Het
Sec16a T A 2: 26,330,057 (GRCm39) M653L probably benign Het
Sh3bp2 T C 5: 34,712,920 (GRCm39) probably null Het
Slc22a3 G A 17: 12,725,991 (GRCm39) T74I probably benign Het
Slc23a4 A G 6: 34,932,057 (GRCm39) L272P probably damaging Het
Slc26a8 T C 17: 28,857,536 (GRCm39) D869G possibly damaging Het
Slc5a11 T A 7: 122,859,731 (GRCm39) V291E probably damaging Het
Slc6a19 C A 13: 73,832,167 (GRCm39) A470S probably benign Het
Slfn8 A G 11: 82,894,006 (GRCm39) S878P probably damaging Het
Smchd1 A G 17: 71,672,089 (GRCm39) M1655T possibly damaging Het
Srgap2 A G 1: 131,220,437 (GRCm39) L179P probably damaging Het
Tbx2 A G 11: 85,725,622 (GRCm39) D191G probably damaging Het
Tenm3 A G 8: 48,796,351 (GRCm39) Y485H probably damaging Het
Trim12c T A 7: 103,990,095 (GRCm39) probably benign Het
Trpc6 A G 9: 8,610,170 (GRCm39) T213A probably damaging Het
Upp1 T A 11: 9,084,708 (GRCm39) probably null Het
Vmn1r46 A T 6: 89,953,198 (GRCm39) I16L probably benign Het
Vmn2r75 A T 7: 85,814,850 (GRCm39) D214E possibly damaging Het
Vmn2r95 T A 17: 18,660,118 (GRCm39) Y177N probably damaging Het
Vmn2r99 T G 17: 19,582,521 (GRCm39) I42S possibly damaging Het
Zeb1 A T 18: 5,761,399 (GRCm39) K232N possibly damaging Het
Zfp280b T C 10: 75,875,603 (GRCm39) I494T probably damaging Het
Zfp804a A G 2: 82,066,143 (GRCm39) D38G probably damaging Het
Other mutations in Ehbp1l1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTTAGGTTCTGTGGGCACTTCAGC -3'
(R):5'- CATCCTTTGATAACTGGGTGGGCG -3'

Sequencing Primer
(F):5'- ATGCTCGCGTAATCGCTG -3'
(R):5'- AGGCGTTGCTAAGCAAATCC -3'
Posted On 2014-04-13