Incidental Mutation 'R1842:Ehbp1l1'
ID 205858
Institutional Source Beutler Lab
Gene Symbol Ehbp1l1
Ensembl Gene ENSMUSG00000024937
Gene Name EH domain binding protein 1-like 1
Synonyms G430002G23Rik
MMRRC Submission 039867-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1842 (G1)
Quality Score 188
Status Not validated
Chromosome 19
Chromosomal Location 5757404-5776345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5775958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 31 (C31S)
Ref Sequence ENSEMBL: ENSMUSP00000126740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025885] [ENSMUST00000049295] [ENSMUST00000075606] [ENSMUST00000099955] [ENSMUST00000116558] [ENSMUST00000159693] [ENSMUST00000160852] [ENSMUST00000161368]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025885
SMART Domains Protein: ENSMUSP00000025885
Gene: ENSMUSG00000079478

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 36 74 2.8e-20 PFAM
low complexity region 107 122 N/A INTRINSIC
low complexity region 127 145 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000049295
AA Change: C31S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: C31S

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: C31S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: C31S

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
Predicted Effect probably benign
Transcript: ENSMUST00000099955
SMART Domains Protein: ENSMUSP00000097538
Gene: ENSMUSG00000024939

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
Pfam:LURAP 70 152 3.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116558
SMART Domains Protein: ENSMUSP00000112257
Gene: ENSMUSG00000024939

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 100 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159008
Predicted Effect probably benign
Transcript: ENSMUST00000159693
SMART Domains Protein: ENSMUSP00000123867
Gene: ENSMUSG00000079478

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 33 59 1.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162407
Predicted Effect probably benign
Transcript: ENSMUST00000162976
SMART Domains Protein: ENSMUSP00000125679
Gene: ENSMUSG00000079478

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 1 28 1.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160852
SMART Domains Protein: ENSMUSP00000125570
Gene: ENSMUSG00000079478

DomainStartEndE-ValueType
Pfam:Auto_anti-p27 36 74 2.8e-20 PFAM
low complexity region 107 122 N/A INTRINSIC
low complexity region 127 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161368
SMART Domains Protein: ENSMUSP00000124294
Gene: ENSMUSG00000024939

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
low complexity region 68 79 N/A INTRINSIC
low complexity region 110 130 N/A INTRINSIC
low complexity region 138 155 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G T 11: 110,087,865 (GRCm39) N1087K probably benign Het
Abcc3 G A 11: 94,250,438 (GRCm39) T921I probably benign Het
Abr T A 11: 76,399,812 (GRCm39) I4F probably damaging Het
Adcy10 T A 1: 165,330,812 (GRCm39) V25D probably damaging Het
Ahnak T A 19: 8,983,231 (GRCm39) M1505K probably damaging Het
Alms1-ps2 T C 6: 85,773,231 (GRCm39) noncoding transcript Het
Apob C G 12: 8,061,559 (GRCm39) T3347S probably damaging Het
Arhgap27 C A 11: 103,230,822 (GRCm39) G11W probably damaging Het
Ccdc110 A T 8: 46,393,605 (GRCm39) I106F probably damaging Het
Ccdc28b T A 4: 129,514,806 (GRCm39) D101V probably damaging Het
Ccdc30 T C 4: 119,188,324 (GRCm39) E566G probably benign Het
Cenpm T C 15: 82,123,565 (GRCm39) S111G probably benign Het
Cep55 A G 19: 38,046,348 (GRCm39) I34V probably benign Het
Dcdc2a T C 13: 25,291,585 (GRCm39) L190S probably damaging Het
Dhh T C 15: 98,792,441 (GRCm39) probably null Het
Dst A G 1: 34,203,200 (GRCm39) N703S probably null Het
E030025P04Rik G A 11: 109,030,396 (GRCm39) L164F unknown Het
Efcab5 A G 11: 77,025,701 (GRCm39) V538A probably benign Het
Egflam A G 15: 7,333,422 (GRCm39) S177P probably benign Het
Eif2d C A 1: 131,098,797 (GRCm39) Q532K probably damaging Het
Elf3 T C 1: 135,184,531 (GRCm39) D175G possibly damaging Het
F5 T C 1: 164,012,129 (GRCm39) V449A probably damaging Het
Fam110a A T 2: 151,811,954 (GRCm39) I272N probably damaging Het
Fbxo34 A G 14: 47,768,464 (GRCm39) D608G probably damaging Het
Flrt2 T C 12: 95,746,058 (GRCm39) L132P probably damaging Het
Frg2f1 A T 4: 119,388,277 (GRCm39) V74D possibly damaging Het
Gad1 G T 2: 70,404,597 (GRCm39) E162D probably benign Het
Glb1l A G 1: 75,177,104 (GRCm39) V444A probably damaging Het
Gm10770 G A 2: 150,021,076 (GRCm39) T147I probably damaging Het
Gm43302 T C 5: 105,425,602 (GRCm39) I276V probably benign Het
Greb1 T C 12: 16,746,244 (GRCm39) H1314R probably damaging Het
Hapln2 A G 3: 87,931,308 (GRCm39) V69A probably damaging Het
Hcn1 T C 13: 118,112,544 (GRCm39) I836T probably damaging Het
Hspa5 A G 2: 34,665,815 (GRCm39) D553G probably damaging Het
Iqgap1 A T 7: 80,410,631 (GRCm39) I194N probably damaging Het
Kansl3 A G 1: 36,390,825 (GRCm39) V304A probably damaging Het
Kdm5d C T Y: 927,798 (GRCm39) S716L probably damaging Het
Klra6 T C 6: 129,999,573 (GRCm39) T132A probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrp1 A G 10: 127,409,337 (GRCm39) I1594T possibly damaging Het
Lrp2bp A G 8: 46,464,152 (GRCm39) D15G probably benign Het
Map4k1 T C 7: 28,686,588 (GRCm39) L170P probably damaging Het
Mast3 A G 8: 71,233,037 (GRCm39) F1108L possibly damaging Het
Mettl5 G T 2: 69,715,686 (GRCm39) L6I unknown Het
Mfsd14a A T 3: 116,426,057 (GRCm39) F447I possibly damaging Het
Mrc2 A G 11: 105,228,546 (GRCm39) I642V probably damaging Het
Necap1 A G 6: 122,851,547 (GRCm39) Y7C probably damaging Het
Nsd1 G A 13: 55,394,258 (GRCm39) E723K probably damaging Het
Nsun3 A T 16: 62,596,755 (GRCm39) L121H probably damaging Het
Nsun6 A T 2: 15,014,288 (GRCm39) M284K probably damaging Het
Nutf2 T C 8: 106,603,242 (GRCm39) probably null Het
Odad2 A T 18: 7,223,551 (GRCm39) D497E probably benign Het
Or1j20 A T 2: 36,759,601 (GRCm39) N8Y probably damaging Het
Or5d38 A T 2: 87,954,471 (GRCm39) M286K probably damaging Het
Pacs1 T C 19: 5,205,912 (GRCm39) E288G probably damaging Het
Peg10 A T 6: 4,756,381 (GRCm39) probably benign Het
Rab38 G A 7: 88,099,730 (GRCm39) E82K possibly damaging Het
Rgsl1 T A 1: 153,675,543 (GRCm39) E206V probably damaging Het
Saxo5 T A 8: 3,533,668 (GRCm39) F295L possibly damaging Het
Scube3 G A 17: 28,384,063 (GRCm39) V521I probably damaging Het
Sgpp1 C T 12: 75,762,982 (GRCm39) V400M probably damaging Het
Slc18b1 T C 10: 23,681,891 (GRCm39) S152P possibly damaging Het
Slit1 A T 19: 41,709,477 (GRCm39) probably null Het
Spata31d1e T C 13: 59,890,320 (GRCm39) Y82C probably damaging Het
Spta1 A G 1: 174,023,513 (GRCm39) K640R probably benign Het
Svil A G 18: 5,062,373 (GRCm39) T898A probably damaging Het
Timm44 A G 8: 4,310,510 (GRCm39) probably null Het
Tomm40 A G 7: 19,447,650 (GRCm39) S127P probably benign Het
Vmn2r23 T A 6: 123,706,649 (GRCm39) V493D possibly damaging Het
Yeats2 T C 16: 19,989,988 (GRCm39) V288A probably damaging Het
Zfhx4 C T 3: 5,466,558 (GRCm39) R2239W probably damaging Het
Zscan2 A C 7: 80,525,301 (GRCm39) K341Q 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
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
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'- AAAGCCACCGAGTCTTGAC -3'
(R):5'- AAGAGCTCCAGAGACCATGG -3'

Sequencing Primer
(F):5'- GAGTCTTGACCCCCACAAGGTTC -3'
(R):5'- CCATGACTTCAGTGTGGA -3'
Posted On 2014-06-23