Incidental Mutation 'R4552:Hid1'
ID 334028
Institutional Source Beutler Lab
Gene Symbol Hid1
Ensembl Gene ENSMUSG00000034586
Gene Name HID1 domain containing
Synonyms C630004H02Rik
MMRRC Submission 041783-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R4552 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115238533-115258582 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115249505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 240 (T240M)
Ref Sequence ENSEMBL: ENSMUSP00000102152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044152] [ENSMUST00000106542]
AlphaFold Q8R1F6
Predicted Effect possibly damaging
Transcript: ENSMUST00000044152
AA Change: T239M

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: T239M

DomainStartEndE-ValueType
Pfam:Dymeclin 1 763 3.9e-242 PFAM
Pfam:Hid1 1 784 3.1e-260 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106542
AA Change: T240M

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: T240M

DomainStartEndE-ValueType
Pfam:Dymeclin 1 764 7.5e-275 PFAM
Pfam:Hid1 1 785 2.3e-261 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123428
AA Change: T151M
SMART Domains Protein: ENSMUSP00000121914
Gene: ENSMUSG00000034586
AA Change: T151M

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
Pfam:Hid1 39 273 5.1e-78 PFAM
Pfam:Dymeclin 41 273 1.7e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153447
Meta Mutation Damage Score 0.1186 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Arhgap33 A T 7: 30,218,533 (GRCm39) probably benign Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Camta1 T C 4: 151,876,959 (GRCm39) R79G probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Cep128 T C 12: 91,260,936 (GRCm39) E309G probably damaging Het
Chit1 A G 1: 134,071,789 (GRCm39) T100A probably benign Het
Dalrd3 A G 9: 108,449,429 (GRCm39) D454G possibly damaging Het
Ddx19a G A 8: 111,705,198 (GRCm39) Q308* probably null Het
Dmxl2 T C 9: 54,359,047 (GRCm39) N395S probably damaging Het
Dnah17 T C 11: 117,943,769 (GRCm39) D3125G possibly damaging Het
Dnah5 T C 15: 28,397,300 (GRCm39) V3331A probably benign Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dner T C 1: 84,361,578 (GRCm39) Y677C probably damaging Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Igbp1b T A 6: 138,635,112 (GRCm39) M111L probably benign Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Klk4 C A 7: 43,533,443 (GRCm39) H101N probably benign Het
Mrgpra2b C A 7: 47,113,754 (GRCm39) S300I probably benign Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Nbas T C 12: 13,385,938 (GRCm39) probably null Het
Nif3l1 C T 1: 58,488,483 (GRCm39) probably benign Het
Noct T A 3: 51,157,589 (GRCm39) I309N probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf2l A T 3: 144,856,844 (GRCm39) T600S probably benign Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or1m1 A G 9: 18,666,430 (GRCm39) V167A possibly damaging Het
Or2y1e A T 11: 49,218,777 (GRCm39) M180L probably benign Het
Or6c217 T C 10: 129,737,992 (GRCm39) M196V probably benign Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pclo T C 5: 14,719,285 (GRCm39) S1141P unknown Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Ppargc1a C T 5: 51,620,557 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,346 (GRCm39) I416L probably benign Het
Rhpn1 G A 15: 75,585,968 (GRCm39) R627H probably benign Het
Ric8a G A 7: 140,441,250 (GRCm39) G182S probably damaging Het
Rims1 T C 1: 22,443,718 (GRCm39) D895G probably damaging Het
Rrp1b G A 17: 32,274,984 (GRCm39) probably benign Het
Rtf1 T A 2: 119,561,210 (GRCm39) D636E probably benign Het
Scn3a T C 2: 65,354,523 (GRCm39) D333G probably benign Het
Sema6a A G 18: 47,424,990 (GRCm39) L207P probably damaging Het
Shcbp1 A T 8: 4,799,779 (GRCm39) Y160* probably null Het
Slc27a1 A T 8: 72,032,710 (GRCm39) probably null Het
Ston2 C T 12: 91,608,646 (GRCm39) R818Q probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Tjap1 A T 17: 46,570,953 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Vmn1r57 A G 7: 5,223,667 (GRCm39) D64G possibly damaging Het
Vmn2r73 T A 7: 85,525,055 (GRCm39) D31V probably benign Het
Vmn2r-ps41 A T 7: 9,180,063 (GRCm39) noncoding transcript Het
Other mutations in Hid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Hid1 APN 11 115,249,895 (GRCm39) missense probably benign 0.05
IGL00783:Hid1 APN 11 115,239,336 (GRCm39) missense probably damaging 1.00
IGL00935:Hid1 APN 11 115,239,324 (GRCm39) missense probably damaging 1.00
IGL02081:Hid1 APN 11 115,239,332 (GRCm39) missense possibly damaging 0.94
IGL02383:Hid1 APN 11 115,243,446 (GRCm39) missense probably damaging 1.00
IGL02637:Hid1 APN 11 115,241,421 (GRCm39) missense probably damaging 0.97
IGL03174:Hid1 APN 11 115,251,215 (GRCm39) missense probably damaging 1.00
R0124:Hid1 UTSW 11 115,247,649 (GRCm39) missense probably damaging 1.00
R0533:Hid1 UTSW 11 115,239,635 (GRCm39) missense probably damaging 1.00
R1027:Hid1 UTSW 11 115,246,251 (GRCm39) missense probably damaging 1.00
R1069:Hid1 UTSW 11 115,247,591 (GRCm39) missense probably damaging 1.00
R1171:Hid1 UTSW 11 115,243,543 (GRCm39) missense probably benign
R1583:Hid1 UTSW 11 115,247,576 (GRCm39) missense possibly damaging 0.51
R1689:Hid1 UTSW 11 115,251,183 (GRCm39) missense probably damaging 1.00
R1746:Hid1 UTSW 11 115,245,464 (GRCm39) missense probably damaging 0.98
R1772:Hid1 UTSW 11 115,239,299 (GRCm39) missense probably damaging 0.97
R1773:Hid1 UTSW 11 115,239,336 (GRCm39) missense probably damaging 1.00
R1831:Hid1 UTSW 11 115,239,729 (GRCm39) missense probably damaging 1.00
R2234:Hid1 UTSW 11 115,241,945 (GRCm39) missense probably damaging 1.00
R2235:Hid1 UTSW 11 115,241,945 (GRCm39) missense probably damaging 1.00
R2897:Hid1 UTSW 11 115,241,356 (GRCm39) missense probably benign
R2898:Hid1 UTSW 11 115,241,356 (GRCm39) missense probably benign
R3711:Hid1 UTSW 11 115,249,601 (GRCm39) missense probably damaging 1.00
R4059:Hid1 UTSW 11 115,247,565 (GRCm39) missense probably damaging 1.00
R4394:Hid1 UTSW 11 115,258,468 (GRCm39) utr 5 prime probably benign
R4478:Hid1 UTSW 11 115,252,481 (GRCm39) missense probably damaging 1.00
R4822:Hid1 UTSW 11 115,246,125 (GRCm39) missense probably damaging 1.00
R5691:Hid1 UTSW 11 115,239,645 (GRCm39) missense probably damaging 1.00
R5980:Hid1 UTSW 11 115,241,774 (GRCm39) missense possibly damaging 0.64
R5981:Hid1 UTSW 11 115,241,774 (GRCm39) missense possibly damaging 0.64
R6363:Hid1 UTSW 11 115,243,422 (GRCm39) missense probably damaging 1.00
R6577:Hid1 UTSW 11 115,245,462 (GRCm39) missense possibly damaging 0.89
R7191:Hid1 UTSW 11 115,239,295 (GRCm39) makesense probably null
R7307:Hid1 UTSW 11 115,239,308 (GRCm39) missense probably damaging 1.00
R7484:Hid1 UTSW 11 115,243,407 (GRCm39) splice site probably null
R7485:Hid1 UTSW 11 115,245,545 (GRCm39) missense probably damaging 1.00
R7836:Hid1 UTSW 11 115,249,821 (GRCm39) missense probably damaging 0.96
R7883:Hid1 UTSW 11 115,245,435 (GRCm39) missense probably damaging 1.00
R7904:Hid1 UTSW 11 115,246,187 (GRCm39) missense probably damaging 1.00
R8765:Hid1 UTSW 11 115,239,786 (GRCm39) critical splice acceptor site probably null
R9269:Hid1 UTSW 11 115,252,502 (GRCm39) missense probably damaging 0.99
R9598:Hid1 UTSW 11 115,239,738 (GRCm39) missense probably damaging 1.00
R9604:Hid1 UTSW 11 115,243,466 (GRCm39) missense
R9727:Hid1 UTSW 11 115,245,939 (GRCm39) missense probably damaging 1.00
X0025:Hid1 UTSW 11 115,239,629 (GRCm39) nonsense probably null
X0066:Hid1 UTSW 11 115,245,551 (GRCm39) missense probably damaging 1.00
Z1177:Hid1 UTSW 11 115,243,551 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGGGCCCTGATAGTAAGG -3'
(R):5'- TTGGCCTTACAGGGAGGAAC -3'

Sequencing Primer
(F):5'- TGTAACTCCTGTCCCAAGGG -3'
(R):5'- TTTTCCCCATGGGCCTGGG -3'
Posted On 2015-08-18