Incidental Mutation 'R1981:Zfp976'
ID 222311
Institutional Source Beutler Lab
Gene Symbol Zfp976
Ensembl Gene ENSMUSG00000074158
Gene Name zinc finger protein 976
Synonyms 9830147E19Rik
MMRRC Submission 039993-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1981 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 42258950-42292012 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42263046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 264 (H264Y)
Ref Sequence ENSEMBL: ENSMUSP00000141023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098503] [ENSMUST00000187616]
AlphaFold E9Q981
Predicted Effect possibly damaging
Transcript: ENSMUST00000098503
AA Change: H265Y

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: H265Y

DomainStartEndE-ValueType
KRAB 4 66 1.73e-18 SMART
ZnF_C2H2 131 153 7.78e-3 SMART
ZnF_C2H2 159 181 1.67e-2 SMART
ZnF_C2H2 187 209 5.9e-3 SMART
ZnF_C2H2 215 237 1.38e-3 SMART
ZnF_C2H2 243 265 8.94e-3 SMART
ZnF_C2H2 271 293 2.24e-3 SMART
ZnF_C2H2 299 321 1.03e-2 SMART
ZnF_C2H2 327 349 1.58e-3 SMART
ZnF_C2H2 355 377 7.9e-4 SMART
ZnF_C2H2 383 405 5.9e-3 SMART
ZnF_C2H2 411 433 2.57e-3 SMART
ZnF_C2H2 439 461 3.16e-3 SMART
ZnF_C2H2 467 489 1.26e-2 SMART
ZnF_C2H2 495 517 8.34e-3 SMART
ZnF_C2H2 523 545 3.63e-3 SMART
ZnF_C2H2 551 573 4.79e-3 SMART
ZnF_C2H2 579 601 9.73e-4 SMART
ZnF_C2H2 607 629 3.63e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107994
Predicted Effect probably damaging
Transcript: ENSMUST00000187616
AA Change: H264Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: H264Y

DomainStartEndE-ValueType
KRAB 3 65 7.4e-21 SMART
ZnF_C2H2 130 152 3.2e-5 SMART
ZnF_C2H2 158 180 7.1e-5 SMART
ZnF_C2H2 186 208 2.4e-5 SMART
ZnF_C2H2 214 236 5.7e-6 SMART
ZnF_C2H2 242 264 3.8e-5 SMART
ZnF_C2H2 270 292 9.7e-6 SMART
ZnF_C2H2 298 320 4.2e-5 SMART
ZnF_C2H2 326 348 6.6e-6 SMART
ZnF_C2H2 354 376 3.3e-6 SMART
ZnF_C2H2 382 404 2.5e-5 SMART
ZnF_C2H2 410 432 1e-5 SMART
ZnF_C2H2 438 460 1.3e-5 SMART
ZnF_C2H2 466 488 5.2e-5 SMART
ZnF_C2H2 494 516 3.6e-5 SMART
ZnF_C2H2 522 544 1.6e-5 SMART
ZnF_C2H2 550 572 2e-5 SMART
ZnF_C2H2 578 600 4e-6 SMART
ZnF_C2H2 606 628 1.5e-5 SMART
Meta Mutation Damage Score 0.6228 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atad1 G T 19: 32,673,210 (GRCm39) D224E probably benign Het
Atp1a3 T G 7: 24,700,400 (GRCm39) E33A probably benign Het
Baz2b A G 2: 59,754,024 (GRCm39) F1100L possibly damaging Het
Car7 C T 8: 105,275,009 (GRCm39) probably benign Het
Casp8 C A 1: 58,868,121 (GRCm39) probably null Het
Cdh23 A T 10: 60,214,530 (GRCm39) L1495H probably damaging Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Col16a1 C G 4: 129,959,236 (GRCm39) P346A unknown Het
Cyp2c29 A G 19: 39,296,216 (GRCm39) probably null Het
Cyp3a13 T C 5: 137,910,118 (GRCm39) S139G probably damaging Het
Dapk2 A G 9: 66,176,180 (GRCm39) H327R probably benign Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dnah2 A G 11: 69,365,151 (GRCm39) Y1944H probably damaging Het
Dnai2 T A 11: 114,623,755 (GRCm39) V6E probably damaging Het
Eipr1 T C 12: 28,913,024 (GRCm39) Y242H probably damaging Het
Fam149a T G 8: 45,834,778 (GRCm39) D7A probably damaging Het
Fam217a T A 13: 35,100,737 (GRCm39) D140V probably benign Het
Fat4 G A 3: 39,045,813 (GRCm39) C3944Y probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Gcsam A T 16: 45,440,337 (GRCm39) T127S probably damaging Het
Git2 C T 5: 114,887,620 (GRCm39) probably benign Het
Gm1527 T C 3: 28,969,984 (GRCm39) probably null Het
Gtf3c1 A G 7: 125,243,444 (GRCm39) L1720P possibly damaging Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hat1 A G 2: 71,220,321 (GRCm39) T28A probably benign Het
Igf2r G A 17: 12,952,790 (GRCm39) Q219* probably null Het
Impdh1 T A 6: 29,206,450 (GRCm39) D129V possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Ltbp3 A G 19: 5,808,107 (GRCm39) Q1250R probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mast2 T C 4: 116,172,037 (GRCm39) Y569C probably damaging Het
Mcoln3 A T 3: 145,846,345 (GRCm39) K552* probably null Het
Mctp2 T C 7: 71,814,446 (GRCm39) Q601R probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Myo19 A T 11: 84,782,996 (GRCm39) Q170L possibly damaging Het
Myo1h T C 5: 114,491,898 (GRCm39) F676S probably damaging Het
Myo9a A G 9: 59,801,429 (GRCm39) T1876A probably benign Het
Nav3 G T 10: 109,554,951 (GRCm39) probably benign Het
Ndor1 T C 2: 25,145,236 (GRCm39) Y43C probably damaging Het
Nlrp1a A G 11: 70,989,764 (GRCm39) V1102A probably damaging Het
Nmnat3 T C 9: 98,292,352 (GRCm39) I199T possibly damaging Het
Nsun7 T C 5: 66,418,557 (GRCm39) S96P probably damaging Het
Ntng1 A G 3: 109,842,326 (GRCm39) V149A possibly damaging Het
Oas3 T C 5: 120,899,900 (GRCm39) probably benign Het
Or10v9 T G 19: 11,832,371 (GRCm39) Q315H possibly damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Or5bw2 A G 7: 6,573,557 (GRCm39) D189G probably benign Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Or8b3 T C 9: 38,315,031 (GRCm39) L287P probably damaging Het
Or8k53 A T 2: 86,177,486 (GRCm39) I208N possibly damaging Het
Pax2 G A 19: 44,806,904 (GRCm39) D301N probably damaging Het
Pcsk4 T A 10: 80,161,613 (GRCm39) E176V probably damaging Het
Pkhd1 G A 1: 20,187,284 (GRCm39) P3675S probably benign Het
Plekho2 A T 9: 65,465,974 (GRCm39) L138Q probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr11 T A 11: 86,994,116 (GRCm39) D100V probably damaging Het
Qars1 A G 9: 108,392,227 (GRCm39) N136D probably damaging Het
Rbm15b A G 9: 106,758,822 (GRCm39) probably benign Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rsrc1 A G 3: 67,257,338 (GRCm39) D250G probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Scn2a C A 2: 65,520,514 (GRCm39) N503K probably damaging Het
Sh2d6 G A 6: 72,494,527 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,157 (GRCm39) T475A probably benign Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Tbx20 T A 9: 24,682,209 (GRCm39) K48N possibly damaging Het
Tead1 C A 7: 112,490,952 (GRCm39) D231E probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tjp1 A T 7: 64,962,603 (GRCm39) F1111L probably damaging Het
Tlr11 T A 14: 50,599,445 (GRCm39) I477K possibly damaging Het
Ttc13 A G 8: 125,440,926 (GRCm39) probably null Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Usp15 T A 10: 122,960,946 (GRCm39) probably benign Het
Usp18 A G 6: 121,229,476 (GRCm39) K32E probably benign Het
Vmn1r12 A T 6: 57,136,646 (GRCm39) M248L probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp930 T A 8: 69,680,824 (GRCm39) L172H probably damaging Het
Other mutations in Zfp976
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Zfp976 APN 7 42,263,109 (GRCm39) missense unknown
IGL01102:Zfp976 APN 7 42,263,333 (GRCm39) nonsense probably null
IGL01111:Zfp976 APN 7 42,265,711 (GRCm39) missense probably damaging 0.99
IGL01628:Zfp976 APN 7 42,261,935 (GRCm39) missense unknown
IGL02008:Zfp976 APN 7 42,263,656 (GRCm39) splice site probably benign
IGL02548:Zfp976 APN 7 42,261,953 (GRCm39) missense unknown
R0190:Zfp976 UTSW 7 42,291,948 (GRCm39) start gained probably benign
R0685:Zfp976 UTSW 7 42,263,141 (GRCm39) missense probably damaging 0.98
R1310:Zfp976 UTSW 7 42,262,610 (GRCm39) missense probably damaging 1.00
R1353:Zfp976 UTSW 7 42,265,442 (GRCm39) missense probably damaging 0.99
R1447:Zfp976 UTSW 7 42,262,023 (GRCm39) missense possibly damaging 0.79
R1569:Zfp976 UTSW 7 42,262,806 (GRCm39) missense probably damaging 1.00
R1702:Zfp976 UTSW 7 42,265,424 (GRCm39) missense possibly damaging 0.86
R1829:Zfp976 UTSW 7 42,265,735 (GRCm39) missense probably damaging 1.00
R1939:Zfp976 UTSW 7 42,263,105 (GRCm39) missense unknown
R1978:Zfp976 UTSW 7 42,263,265 (GRCm39) missense probably damaging 1.00
R2160:Zfp976 UTSW 7 42,263,354 (GRCm39) missense probably benign
R2192:Zfp976 UTSW 7 42,262,695 (GRCm39) missense probably damaging 1.00
R3121:Zfp976 UTSW 7 42,262,938 (GRCm39) missense probably damaging 1.00
R4210:Zfp976 UTSW 7 42,265,749 (GRCm39) missense probably damaging 0.99
R4724:Zfp976 UTSW 7 42,262,457 (GRCm39) missense possibly damaging 0.91
R4943:Zfp976 UTSW 7 42,261,846 (GRCm39) unclassified probably benign
R5047:Zfp976 UTSW 7 42,262,843 (GRCm39) nonsense probably null
R5071:Zfp976 UTSW 7 42,262,354 (GRCm39) nonsense probably null
R5125:Zfp976 UTSW 7 42,261,925 (GRCm39) splice site probably null
R5178:Zfp976 UTSW 7 42,261,925 (GRCm39) splice site probably null
R5305:Zfp976 UTSW 7 42,262,902 (GRCm39) missense probably benign 0.00
R5777:Zfp976 UTSW 7 42,263,504 (GRCm39) missense probably benign 0.00
R6153:Zfp976 UTSW 7 42,263,610 (GRCm39) missense probably damaging 0.99
R6694:Zfp976 UTSW 7 42,263,610 (GRCm39) missense probably damaging 0.99
R7226:Zfp976 UTSW 7 42,262,684 (GRCm39) nonsense probably null
R7479:Zfp976 UTSW 7 42,262,603 (GRCm39) missense probably benign 0.01
R7561:Zfp976 UTSW 7 42,265,701 (GRCm39) missense probably damaging 1.00
R8178:Zfp976 UTSW 7 42,262,959 (GRCm39) missense probably benign 0.03
R8261:Zfp976 UTSW 7 42,262,125 (GRCm39) missense unknown
R8715:Zfp976 UTSW 7 42,262,869 (GRCm39) missense possibly damaging 0.89
R8921:Zfp976 UTSW 7 42,262,575 (GRCm39) missense possibly damaging 0.57
R9168:Zfp976 UTSW 7 42,263,011 (GRCm39) nonsense probably null
R9575:Zfp976 UTSW 7 42,262,041 (GRCm39) missense unknown
Z1088:Zfp976 UTSW 7 42,262,184 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TTCATGTGCTCGAAGGTACCTG -3'
(R):5'- CGAGCACATGAAAGAACACATT -3'

Sequencing Primer
(F):5'- GAGCTGTGCAAAGCCTTTATCAC -3'
(R):5'- GTGCTAAAGCCTTTACTCTAAGGAG -3'
Posted On 2014-08-25