Incidental Mutation 'R1712:Zbtb14'
ID 190721
Institutional Source Beutler Lab
Gene Symbol Zbtb14
Ensembl Gene ENSMUSG00000049672
Gene Name zinc finger and BTB domain containing 14
Synonyms Zfp161, b2b1982Clo, ZF5
MMRRC Submission 039745-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R1712 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 69690170-69697747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69694575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 91 (N91S)
Ref Sequence ENSEMBL: ENSMUSP00000108296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062369] [ENSMUST00000112674] [ENSMUST00000112676]
AlphaFold Q08376
Predicted Effect probably damaging
Transcript: ENSMUST00000062369
AA Change: N91S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: N91S

DomainStartEndE-ValueType
BTB 36 132 8.8e-26 SMART
low complexity region 154 171 N/A INTRINSIC
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 3.95e-4 SMART
ZnF_C2H2 333 355 9.88e-5 SMART
ZnF_C2H2 361 383 2.2e-2 SMART
ZnF_C2H2 389 412 2.02e-1 SMART
low complexity region 428 444 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112674
AA Change: N91S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: N91S

DomainStartEndE-ValueType
BTB 36 132 8.8e-26 SMART
low complexity region 154 171 N/A INTRINSIC
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 3.95e-4 SMART
ZnF_C2H2 333 355 9.88e-5 SMART
ZnF_C2H2 361 383 2.2e-2 SMART
ZnF_C2H2 389 412 2.02e-1 SMART
low complexity region 428 444 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112676
AA Change: N91S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: N91S

DomainStartEndE-ValueType
BTB 36 132 8.8e-26 SMART
low complexity region 154 171 N/A INTRINSIC
ZnF_C2H2 277 299 7.26e-3 SMART
ZnF_C2H2 305 327 3.95e-4 SMART
ZnF_C2H2 333 355 9.88e-5 SMART
ZnF_C2H2 361 383 2.2e-2 SMART
ZnF_C2H2 389 412 2.02e-1 SMART
low complexity region 428 444 N/A INTRINSIC
Meta Mutation Damage Score 0.3388 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation show exencephaly, cardiac defects including valve abnormalities, double outlet right ventricle, perimembranous ventricular septal defect, and atrioventricular septal defect, and renal anomalies such as duplex kidney, hydronephrosis, and kidney cysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,678,448 (GRCm39) E12D probably damaging Het
Ahnak2 C A 12: 112,748,998 (GRCm39) R283L probably benign Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
C1galt1 A G 6: 7,871,217 (GRCm39) N351S probably benign Het
Ccdc162 T C 10: 41,415,427 (GRCm39) R2179G probably benign Het
Ccdc88c G A 12: 100,905,284 (GRCm39) T1108M probably benign Het
Cd47 T C 16: 49,714,543 (GRCm39) L184P probably damaging Het
Cdc40 T C 10: 40,717,372 (GRCm39) K440E probably damaging Het
Cenpe G A 3: 134,971,694 (GRCm39) V2262I probably damaging Het
Cep290 A G 10: 100,390,361 (GRCm39) K2035E probably benign Het
Cks1brt G T 8: 85,898,172 (GRCm39) L8F probably benign Het
Col17a1 T C 19: 47,637,442 (GRCm39) probably benign Het
Coro6 A T 11: 77,360,293 (GRCm39) N421I probably benign Het
Cps1 T C 1: 67,269,440 (GRCm39) S1480P probably damaging Het
Csrnp3 G T 2: 65,832,826 (GRCm39) A110S probably damaging Het
Cyp2d10 G T 15: 82,287,240 (GRCm39) T461K probably damaging Het
Dmxl2 A G 9: 54,308,769 (GRCm39) V1994A probably benign Het
Dnah11 T A 12: 118,160,379 (GRCm39) N117I probably benign Het
Dnajc3 A G 14: 119,195,307 (GRCm39) Y74C probably damaging Het
Fam13c T A 10: 70,390,403 (GRCm39) F555I possibly damaging Het
Fbn1 T A 2: 125,188,354 (GRCm39) D1495V probably damaging Het
Fbrsl1 T C 5: 110,595,862 (GRCm39) T58A probably benign Het
Gjd3 A G 11: 102,691,706 (GRCm39) I99T possibly damaging Het
Glce T C 9: 61,977,857 (GRCm39) N9S probably damaging Het
Gosr1 T C 11: 76,641,704 (GRCm39) T125A possibly damaging Het
Ifi27l2a T A 12: 103,406,202 (GRCm39) probably null Het
Jph1 C T 1: 17,167,456 (GRCm39) D125N possibly damaging Het
Kbtbd12 A T 6: 88,595,676 (GRCm39) S51R probably damaging Het
Klra9 A T 6: 130,166,659 (GRCm39) probably null Het
Kmo A T 1: 175,484,289 (GRCm39) M340L probably benign Het
Lama1 T C 17: 68,024,181 (GRCm39) I93T possibly damaging Het
Limk2 A T 11: 3,308,104 (GRCm39) probably null Het
Mgat5 C A 1: 127,248,375 (GRCm39) N92K probably benign Het
Mib2 T A 4: 155,739,256 (GRCm39) I908F probably damaging Het
Mical1 T G 10: 41,356,359 (GRCm39) L304R probably damaging Het
Mtbp G T 15: 55,434,690 (GRCm39) probably null Het
Myo3a T C 2: 22,455,004 (GRCm39) Y70H probably damaging Het
Neb T C 2: 52,133,401 (GRCm39) Y3379C probably damaging Het
Neurod2 G T 11: 98,218,029 (GRCm39) N378K probably damaging Het
Oog4 G A 4: 143,166,484 (GRCm39) L107F probably damaging Het
Or2g25 A G 17: 37,970,799 (GRCm39) S142P probably benign Het
Or4k40 T A 2: 111,251,003 (GRCm39) M98L probably benign Het
Or6x1 A G 9: 40,099,161 (GRCm39) Y250C probably damaging Het
Or8k20 T A 2: 86,106,337 (GRCm39) T165S probably damaging Het
Pfdn6 T C 17: 34,158,528 (GRCm39) Y82C probably damaging Het
Pla2g4d C A 2: 120,107,971 (GRCm39) A313S possibly damaging Het
Ptcd3 C A 6: 71,885,637 (GRCm39) E30* probably null Het
Rai1 A G 11: 60,078,428 (GRCm39) T831A probably benign Het
Rims1 G A 1: 22,367,172 (GRCm39) T1176M probably damaging Het
Rin1 A C 19: 5,105,171 (GRCm39) I744L probably benign Het
Rora T A 9: 69,282,771 (GRCm39) S430T probably benign Het
Rsph10b T A 5: 143,873,967 (GRCm39) S23T probably damaging Het
Ryr1 T C 7: 28,746,928 (GRCm39) N3773S probably benign Het
Scn4a A G 11: 106,230,180 (GRCm39) Y543H probably damaging Het
Scn4a C A 11: 106,236,373 (GRCm39) G296C probably benign Het
Scn7a T C 2: 66,535,447 (GRCm39) T435A probably benign Het
Shank2 G T 7: 143,964,890 (GRCm39) D833Y probably damaging Het
Slc9a2 T C 1: 40,802,770 (GRCm39) S607P possibly damaging Het
Slx4 G A 16: 3,809,458 (GRCm39) R346W probably damaging Het
Spata20 A T 11: 94,371,340 (GRCm39) C675S probably benign Het
Suclg2 A T 6: 95,563,997 (GRCm39) I196N probably damaging Het
Sv2b G A 7: 74,798,807 (GRCm39) H272Y possibly damaging Het
Svep1 T C 4: 58,070,629 (GRCm39) I2386V probably benign Het
Taf13 A T 3: 108,488,445 (GRCm39) E109D possibly damaging Het
Tanc2 A G 11: 105,790,606 (GRCm39) T976A probably benign Het
Tax1bp1 A G 6: 52,706,311 (GRCm39) Y104C probably damaging Het
Tfeb T C 17: 48,099,911 (GRCm39) probably null Het
Tlr9 T C 9: 106,101,248 (GRCm39) Y180H probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttc12 T A 9: 49,356,499 (GRCm39) T510S probably benign Het
Ubqln1 T C 13: 58,339,895 (GRCm39) E280G probably damaging Het
Urm1 T C 2: 29,731,437 (GRCm39) W44R probably damaging Het
Usp32 A T 11: 84,933,406 (GRCm39) I34N probably benign Het
Vars1 T C 17: 35,233,728 (GRCm39) L1018P probably damaging Het
Vcan A T 13: 89,869,894 (GRCm39) V206D probably damaging Het
Vim T C 2: 13,583,270 (GRCm39) V224A probably damaging Het
Vmn2r106 G T 17: 20,498,997 (GRCm39) H305N probably benign Het
Vmn2r78 A G 7: 86,604,132 (GRCm39) N770S probably damaging Het
Wdr33 T A 18: 32,029,684 (GRCm39) L961Q unknown Het
Xylt2 A G 11: 94,559,575 (GRCm39) S356P possibly damaging Het
Zc3h6 T C 2: 128,858,654 (GRCm39) L895S probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A probably benign Het
Other mutations in Zbtb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Zbtb14 APN 17 69,695,184 (GRCm39) missense probably benign 0.04
IGL01623:Zbtb14 APN 17 69,695,184 (GRCm39) missense probably benign 0.04
IGL02477:Zbtb14 APN 17 69,694,690 (GRCm39) missense probably benign 0.00
PIT4687001:Zbtb14 UTSW 17 69,695,302 (GRCm39) nonsense probably null
R0736:Zbtb14 UTSW 17 69,694,797 (GRCm39) missense possibly damaging 0.66
R0811:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0812:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0829:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0866:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0946:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R0947:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1052:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1053:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1056:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1076:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1187:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1374:Zbtb14 UTSW 17 69,694,575 (GRCm39) missense probably damaging 1.00
R1471:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1505:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1507:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1508:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1509:Zbtb14 UTSW 17 69,694,759 (GRCm39) missense probably benign 0.00
R1514:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1680:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1691:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R1907:Zbtb14 UTSW 17 69,694,385 (GRCm39) missense possibly damaging 0.91
R1981:Zbtb14 UTSW 17 69,695,497 (GRCm39) missense probably damaging 1.00
R2916:Zbtb14 UTSW 17 69,695,214 (GRCm39) missense probably damaging 1.00
R2918:Zbtb14 UTSW 17 69,695,214 (GRCm39) missense probably damaging 1.00
R4589:Zbtb14 UTSW 17 69,695,465 (GRCm39) missense probably damaging 1.00
R4622:Zbtb14 UTSW 17 69,695,342 (GRCm39) missense possibly damaging 0.80
R4812:Zbtb14 UTSW 17 69,694,577 (GRCm39) missense probably damaging 1.00
R6246:Zbtb14 UTSW 17 69,694,478 (GRCm39) missense possibly damaging 0.46
R6889:Zbtb14 UTSW 17 69,694,674 (GRCm39) missense probably damaging 1.00
R7575:Zbtb14 UTSW 17 69,694,442 (GRCm39) missense probably damaging 0.98
R7716:Zbtb14 UTSW 17 69,694,415 (GRCm39) missense probably benign
R8976:Zbtb14 UTSW 17 69,694,752 (GRCm39) missense possibly damaging 0.95
R9341:Zbtb14 UTSW 17 69,695,576 (GRCm39) missense probably damaging 0.97
R9343:Zbtb14 UTSW 17 69,695,576 (GRCm39) missense probably damaging 0.97
R9638:Zbtb14 UTSW 17 69,695,375 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGATGTAAAGTTCCGAGCCCAC -3'
(R):5'- TGCCCTCTACCGTGTCATCAGAAG -3'

Sequencing Primer
(F):5'- CAGCTCGTCCGTCATAGAGATA -3'
(R):5'- TCATCAGAAGGGCTGTCATC -3'
Posted On 2014-05-14