Incidental Mutation 'R0124:Hid1'
ID 21233
Institutional Source Beutler Lab
Gene Symbol Hid1
Ensembl Gene ENSMUSG00000034586
Gene Name HID1 domain containing
Synonyms C630004H02Rik
MMRRC Submission 038409-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R0124 (G1)
Quality Score 67
Status Validated (trace)
Chromosome 11
Chromosomal Location 115238533-115258582 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115247649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 250 (T250A)
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: T249A

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043789
Gene: ENSMUSG00000034586
AA Change: T249A

DomainStartEndE-ValueType
Pfam:Dymeclin 1 763 3.9e-242 PFAM
Pfam:Hid1 1 784 3.1e-260 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106542
AA Change: T250A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102152
Gene: ENSMUSG00000034586
AA Change: T250A

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: T161A
SMART Domains Protein: ENSMUSP00000121914
Gene: ENSMUSG00000034586
AA Change: T161A

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 0.3515 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.7%
  • 20x: 89.8%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,656 (GRCm39) T194A probably benign Het
Afap1 C T 5: 36,102,553 (GRCm39) P82S probably damaging Het
Ankrd28 A G 14: 31,449,698 (GRCm39) Y481H probably damaging Het
Arid1b C T 17: 5,389,605 (GRCm39) T1717I probably damaging Het
Atad2b A G 12: 5,002,676 (GRCm39) K348R probably benign Het
Bcl3 C T 7: 19,543,576 (GRCm39) V5M probably damaging Het
C2cd3 A G 7: 100,118,725 (GRCm39) E2321G probably benign Het
Casq1 C T 1: 172,037,992 (GRCm39) V380M probably damaging Het
Cd209e T A 8: 3,901,274 (GRCm39) T127S probably benign Het
Cdh23 G T 10: 60,143,835 (GRCm39) Y2921* probably null Het
Cdh6 A G 15: 13,034,410 (GRCm39) L750P probably damaging Het
Cdk12 T C 11: 98,102,073 (GRCm39) probably benign Het
Ces5a T C 8: 94,255,183 (GRCm39) E170G probably damaging Het
Clec4f A G 6: 83,629,335 (GRCm39) probably null Het
Col19a1 T C 1: 24,565,539 (GRCm39) N264S unknown Het
Col2a1 T A 15: 97,896,743 (GRCm39) I43F unknown Het
Col4a2 A G 8: 11,458,871 (GRCm39) probably benign Het
Csmd3 T A 15: 47,454,112 (GRCm39) D3578V probably damaging Het
Cyp2c37 T C 19: 39,982,546 (GRCm39) L128P probably damaging Het
Dennd2b A G 7: 109,141,718 (GRCm39) S132P possibly damaging Het
Dysf A G 6: 84,042,084 (GRCm39) probably benign Het
Eml1 T C 12: 108,472,867 (GRCm39) V225A probably benign Het
Eml1 A G 12: 108,475,437 (GRCm39) Y256C probably damaging Het
Epb41l5 T A 1: 119,561,370 (GRCm39) K64* probably null Het
Fat2 A G 11: 55,174,504 (GRCm39) F2070L probably damaging Het
Fbxw18 G T 9: 109,520,583 (GRCm39) H259N probably benign Het
Gm10764 A T 10: 87,126,610 (GRCm39) T6S unknown Het
Gm14412 A G 2: 177,007,705 (GRCm39) probably benign Het
Heatr5b A T 17: 79,133,646 (GRCm39) probably benign Het
Hnf4g A G 3: 3,708,142 (GRCm39) probably benign Het
Ifnar1 C T 16: 91,296,425 (GRCm39) Q309* probably null Het
Lrriq1 C T 10: 103,006,281 (GRCm39) probably null Het
Map3k13 A G 16: 21,722,506 (GRCm39) T223A possibly damaging Het
Matn2 C T 15: 34,426,297 (GRCm39) probably benign Het
Myo6 A G 9: 80,215,056 (GRCm39) E1253G probably damaging Het
Nomo1 G T 7: 45,732,652 (GRCm39) probably benign Het
Or1ak2 A T 2: 36,827,268 (GRCm39) I46F possibly damaging Het
Or4c116 A T 2: 88,942,088 (GRCm39) I256K possibly damaging Het
Or8a1b A G 9: 37,622,759 (GRCm39) V272A possibly damaging Het
Papolg C T 11: 23,817,535 (GRCm39) A582T probably benign Het
Plekhm3 C T 1: 64,960,910 (GRCm39) E449K probably damaging Het
Pole T G 5: 110,451,858 (GRCm39) M900R probably damaging Het
Ppp1cb T A 5: 32,640,822 (GRCm39) probably benign Het
Pramel17 A G 4: 101,692,570 (GRCm39) *477Q probably null Het
Pros1 A G 16: 62,734,309 (GRCm39) T372A possibly damaging Het
Scara3 A T 14: 66,168,670 (GRCm39) S316T probably benign Het
Stau2 C T 1: 16,533,352 (GRCm39) A61T probably damaging Het
Stx3 T C 19: 11,769,163 (GRCm39) E54G possibly damaging Het
Sun1 T C 5: 139,232,434 (GRCm39) probably benign Het
Swt1 A T 1: 151,267,280 (GRCm39) C634S probably damaging Het
Syt6 A G 3: 103,494,842 (GRCm39) Y269C probably damaging Het
Tfap2a G A 13: 40,870,887 (GRCm39) probably benign Het
Tmx4 A T 2: 134,481,640 (GRCm39) probably null Het
Ttc39d T C 17: 80,524,375 (GRCm39) C345R probably damaging Het
Vmn1r27 T C 6: 58,192,233 (GRCm39) Y257C probably damaging Het
Vmn2r27 T A 6: 124,208,578 (GRCm39) T56S probably benign Het
Vps13b T C 15: 35,576,674 (GRCm39) probably null Het
Wdr17 A G 8: 55,088,526 (GRCm39) S1175P probably damaging Het
Wsb2 T C 5: 117,501,823 (GRCm39) F63L probably benign Het
Zfp142 A G 1: 74,607,782 (GRCm39) Y1561H probably damaging 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
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
R4552:Hid1 UTSW 11 115,249,505 (GRCm39) missense possibly damaging 0.94
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'- CTGGTAGCACTGTCATGGTCCAAG -3'
(R):5'- GTGTGTGACCCCAAGAACTGAGAAG -3'

Sequencing Primer
(F):5'- TCATGGTCCAAGGTGACAATAAG -3'
(R):5'- TTCTATTCAGGAAGGGACAAGCTC -3'
Posted On 2013-04-11