Incidental Mutation 'R9135:Zfp408'
ID 693886
Institutional Source Beutler Lab
Gene Symbol Zfp408
Ensembl Gene ENSMUSG00000075040
Gene Name zinc finger protein 408
Synonyms LOC381410
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9135 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91474014-91480136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91475528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 542 (L542H)
Ref Sequence ENSEMBL: ENSMUSP00000106965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099714] [ENSMUST00000111329] [ENSMUST00000111331] [ENSMUST00000111333] [ENSMUST00000145582]
AlphaFold H7BX78
Predicted Effect probably damaging
Transcript: ENSMUST00000099714
AA Change: L642H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040
AA Change: L642H

DomainStartEndE-ValueType
ZnF_C2H2 344 366 7.05e-1 SMART
ZnF_C2H2 372 394 1.67e-2 SMART
ZnF_C2H2 400 422 2.24e-3 SMART
ZnF_C2H2 428 450 8.6e-5 SMART
ZnF_C2H2 459 481 5.9e-3 SMART
ZnF_C2H2 487 509 4.87e-4 SMART
ZnF_C2H2 515 537 2.95e-3 SMART
ZnF_C2H2 542 564 2.2e-2 SMART
ZnF_C2H2 570 592 1.69e-3 SMART
ZnF_C2H2 598 620 3.89e-3 SMART
low complexity region 625 638 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111329
SMART Domains Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111331
SMART Domains Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 44 58 N/A INTRINSIC
low complexity region 82 92 N/A INTRINSIC
SEC14 104 255 5.08e-25 SMART
low complexity region 264 278 N/A INTRINSIC
RhoGAP 297 468 1.06e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111333
AA Change: L542H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040
AA Change: L542H

DomainStartEndE-ValueType
ZnF_C2H2 244 266 7.05e-1 SMART
ZnF_C2H2 272 294 1.67e-2 SMART
ZnF_C2H2 300 322 2.24e-3 SMART
ZnF_C2H2 328 350 8.6e-5 SMART
ZnF_C2H2 359 381 5.9e-3 SMART
ZnF_C2H2 387 409 4.87e-4 SMART
ZnF_C2H2 415 437 2.95e-3 SMART
ZnF_C2H2 442 464 2.2e-2 SMART
ZnF_C2H2 470 492 1.69e-3 SMART
ZnF_C2H2 498 520 3.89e-3 SMART
low complexity region 525 538 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145582
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Abi3bp A G 16: 56,417,173 (GRCm39) D419G probably benign Het
Acoxl A T 2: 127,696,691 (GRCm39) probably benign Het
Acvr1 T C 2: 58,352,983 (GRCm39) T326A possibly damaging Het
Adgra2 T C 8: 27,610,979 (GRCm39) L976P probably damaging Het
Adora2b A G 11: 62,155,886 (GRCm39) probably null Het
Ak1 A T 2: 32,521,182 (GRCm39) Q117L probably damaging Het
Akr1c14 T A 13: 4,128,029 (GRCm39) D143E probably damaging Het
Ap4e1 A T 2: 126,861,242 (GRCm39) H127L probably damaging Het
Asxl3 T A 18: 22,649,670 (GRCm39) I553N probably damaging Het
Asxl3 T A 18: 22,657,481 (GRCm39) N1830K possibly damaging Het
Atp11a G A 8: 12,863,144 (GRCm39) A108T probably damaging Het
Bag6 A G 17: 35,362,437 (GRCm39) T582A unknown Het
Bbs9 T C 9: 22,490,005 (GRCm39) S259P probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bltp3a T A 17: 28,104,902 (GRCm39) L532* probably null Het
Blvrb T C 7: 27,165,210 (GRCm39) S177P probably damaging Het
C1s2 T A 6: 124,602,642 (GRCm39) D523V probably benign Het
Cacna2d1 C T 5: 16,558,850 (GRCm39) T736I probably damaging Het
Card9 T C 2: 26,242,397 (GRCm39) N513S probably benign Het
Casp2 A G 6: 42,245,882 (GRCm39) T180A probably benign Het
Cenpf A T 1: 189,404,746 (GRCm39) L361Q probably damaging Het
Cnbd2 T C 2: 156,217,488 (GRCm39) I659T probably damaging Het
Cped1 A T 6: 21,987,012 (GRCm39) D68V probably damaging Het
Cxcr1 T C 1: 74,231,099 (GRCm39) I308V probably benign Het
Dad1 A G 14: 54,491,163 (GRCm39) L46P probably damaging Het
Defb23 G A 2: 152,301,422 (GRCm39) A50V probably benign Het
Dhx33 C T 11: 70,877,992 (GRCm39) A684T probably damaging Het
Dnai3 T C 3: 145,772,589 (GRCm39) T486A probably benign Het
Epb41l4a T A 18: 33,965,729 (GRCm39) N366I probably benign Het
Erich3 A G 3: 154,467,912 (GRCm39) E788G Het
Fam241b T C 10: 61,944,892 (GRCm39) N35S probably benign Het
Fbxo24 T A 5: 137,622,526 (GRCm39) Q80L probably benign Het
Foxk1 T G 5: 142,434,497 (GRCm39) F254V probably benign Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gm12886 T C 4: 121,274,743 (GRCm39) I46V probably benign Het
Gm20834 G T Y: 10,323,354 (GRCm39) H27Q probably damaging Het
Gm2888 A G 14: 3,032,106 (GRCm38) N138S probably damaging Het
Gm5773 T C 3: 93,681,179 (GRCm39) C284R possibly damaging Het
Gprin3 A T 6: 59,330,273 (GRCm39) M678K probably benign Het
Grm7 T C 6: 111,472,729 (GRCm39) V856A probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Immt C T 6: 71,851,403 (GRCm39) T588I probably damaging Het
Ints1 G C 5: 139,737,701 (GRCm39) N2145K possibly damaging Het
Jade2 T C 11: 51,715,951 (GRCm39) D418G probably benign Het
Kdf1 T C 4: 133,256,140 (GRCm39) Y286H probably damaging Het
Kif18a A G 2: 109,171,506 (GRCm39) Y861C possibly damaging Het
Lama2 T A 10: 27,298,515 (GRCm39) I194F probably damaging Het
Lhx8 A G 3: 154,034,063 (GRCm39) S33P probably benign Het
Lmo7 T C 14: 102,118,297 (GRCm39) I174T probably damaging Het
Lrfn2 A T 17: 49,376,976 (GRCm39) D19V possibly damaging Het
Lrrk1 A T 7: 65,928,357 (GRCm39) I1257N probably damaging Het
Malrd1 T A 2: 15,802,516 (GRCm39) H1076Q unknown Het
Map3k14 A C 11: 103,128,364 (GRCm39) M419R probably damaging Het
Mcm10 G A 2: 5,011,372 (GRCm39) R200C probably benign Het
Mertk A G 2: 128,604,035 (GRCm39) N390D probably benign Het
Mitf T A 6: 97,990,680 (GRCm39) I361N probably damaging Het
Mrgprb1 T A 7: 48,097,046 (GRCm39) I289F possibly damaging Het
Muc5ac A T 7: 141,352,218 (GRCm39) D659V probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nphp3 T G 9: 103,909,214 (GRCm39) L808R probably damaging Het
Or14c42-ps1 G A 7: 86,211,156 (GRCm39) C72Y unknown Het
Or1e1 T C 11: 73,245,316 (GRCm39) S246P probably damaging Het
Or5an1 T A 19: 12,260,808 (GRCm39) L132Q probably damaging Het
Or5b113 T A 19: 13,342,755 (GRCm39) S254R possibly damaging Het
Pagr1a T C 7: 126,615,954 (GRCm39) E47G probably benign Het
Papss2 G T 19: 32,618,764 (GRCm39) R274L probably damaging Het
Pcdhga10 C A 18: 37,880,960 (GRCm39) F240L probably damaging Het
Pcsk5 T G 19: 17,563,472 (GRCm39) E555A Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pgrmc2 T A 3: 41,023,099 (GRCm39) D206V probably damaging Het
Pkd1 T C 17: 24,790,976 (GRCm39) V1057A Het
Plekha5 T C 6: 140,480,239 (GRCm39) I113T probably damaging Het
Prorp T A 12: 55,426,189 (GRCm39) L513Q probably damaging Het
Prss32 C T 17: 24,078,199 (GRCm39) T295I possibly damaging Het
Ptprk G T 10: 28,456,413 (GRCm39) V1072F probably damaging Het
Rasd2 T A 8: 75,945,174 (GRCm39) M1K probably null Het
Rhag T A 17: 41,139,302 (GRCm39) M79K probably damaging Het
Rnf19a C A 15: 36,253,310 (GRCm39) probably null Het
Rnf213 G T 11: 119,299,573 (GRCm39) G101C Het
Sap130 T A 18: 31,780,116 (GRCm39) D45E probably benign Het
Scel T A 14: 103,839,626 (GRCm39) F510I probably benign Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Shoc2 T A 19: 53,976,310 (GRCm39) S67T probably benign Het
Slc22a3 T C 17: 12,645,619 (GRCm39) I441V possibly damaging Het
Slfn5 A G 11: 82,851,503 (GRCm39) D600G probably benign Het
Smim7 G A 8: 73,324,757 (GRCm39) T10M probably damaging Het
Sntb2 A T 8: 107,662,831 (GRCm39) Q133L possibly damaging Het
Steap3 A C 1: 120,162,048 (GRCm39) M408R probably benign Het
Supt4a T C 11: 87,633,624 (GRCm39) I60T probably benign Het
Swt1 A C 1: 151,244,239 (GRCm39) C899G possibly damaging Het
Taok3 A G 5: 117,344,744 (GRCm39) E157G probably damaging Het
Taok3 C T 5: 117,379,245 (GRCm39) L427F possibly damaging Het
Taok3 T C 5: 117,379,168 (GRCm39) V401A probably benign Het
Tcf25 A G 8: 124,108,182 (GRCm39) E79G probably benign Het
Tigit G A 16: 43,479,876 (GRCm39) L140F possibly damaging Het
Tmem143 G T 7: 45,546,802 (GRCm39) probably benign Het
Tmem151b C T 17: 45,856,355 (GRCm39) V362M possibly damaging Het
Tmem230 A G 2: 132,085,989 (GRCm39) F58L probably benign Het
Trim25 T C 11: 88,899,988 (GRCm39) M245T probably benign Het
Trim36 A C 18: 46,302,410 (GRCm39) V546G probably benign Het
Triml1 T C 8: 43,583,624 (GRCm39) N326D probably damaging Het
Trp53bp2 T C 1: 182,286,328 (GRCm39) V1056A probably damaging Het
Trpa1 C A 1: 14,952,435 (GRCm39) M865I probably damaging Het
Ttbk1 A T 17: 46,790,132 (GRCm39) Y104* probably null Het
Tubg1 T A 11: 101,014,257 (GRCm39) H139Q probably damaging Het
Ufsp2 A G 8: 46,447,050 (GRCm39) probably null Het
Usp47 A T 7: 111,652,431 (GRCm39) N36I probably benign Het
Vmn1r32 G A 6: 66,530,120 (GRCm39) R219* probably null Het
Vmn2r59 G A 7: 41,693,125 (GRCm39) P492S probably benign Het
Vmn2r59 G C 7: 41,693,127 (GRCm39) A491G Het
Wdr76 T C 2: 121,364,592 (GRCm39) Y299H probably damaging Het
Wnt5a C T 14: 28,240,309 (GRCm39) A153V probably benign Het
Zfp202 T C 9: 40,120,237 (GRCm39) V226A possibly damaging Het
Zfp219 C T 14: 52,244,598 (GRCm39) R527H probably damaging Het
Zfyve9 A T 4: 108,539,386 (GRCm39) C271* probably null Het
Other mutations in Zfp408
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Zfp408 APN 2 91,478,351 (GRCm39) splice site probably benign
IGL02374:Zfp408 APN 2 91,476,156 (GRCm39) missense probably damaging 1.00
IGL03012:Zfp408 APN 2 91,478,153 (GRCm39) missense probably benign
Innuendo UTSW 2 91,476,690 (GRCm39) missense probably benign 0.06
Slander UTSW 2 91,478,194 (GRCm39) splice site probably benign
R0467:Zfp408 UTSW 2 91,475,882 (GRCm39) missense possibly damaging 0.86
R0981:Zfp408 UTSW 2 91,475,528 (GRCm39) missense probably benign 0.38
R1579:Zfp408 UTSW 2 91,476,473 (GRCm39) missense probably benign 0.05
R1673:Zfp408 UTSW 2 91,476,353 (GRCm39) missense probably damaging 0.97
R1935:Zfp408 UTSW 2 91,480,093 (GRCm39) start codon destroyed probably null 0.95
R2071:Zfp408 UTSW 2 91,476,363 (GRCm39) missense probably damaging 0.96
R2127:Zfp408 UTSW 2 91,475,519 (GRCm39) missense probably damaging 0.98
R2141:Zfp408 UTSW 2 91,478,194 (GRCm39) splice site probably benign
R3688:Zfp408 UTSW 2 91,476,777 (GRCm39) missense probably benign 0.00
R4681:Zfp408 UTSW 2 91,476,131 (GRCm39) missense probably damaging 1.00
R4782:Zfp408 UTSW 2 91,475,369 (GRCm39) missense possibly damaging 0.88
R4939:Zfp408 UTSW 2 91,475,450 (GRCm39) missense probably damaging 1.00
R5306:Zfp408 UTSW 2 91,476,690 (GRCm39) missense probably benign 0.06
R5344:Zfp408 UTSW 2 91,475,588 (GRCm39) missense probably benign 0.15
R6054:Zfp408 UTSW 2 91,479,636 (GRCm39) missense probably benign 0.00
R7985:Zfp408 UTSW 2 91,476,776 (GRCm39) missense probably benign
R8193:Zfp408 UTSW 2 91,475,361 (GRCm39) missense probably benign 0.00
R9075:Zfp408 UTSW 2 91,476,065 (GRCm39) missense possibly damaging 0.77
R9514:Zfp408 UTSW 2 91,478,368 (GRCm39) missense probably damaging 1.00
Z1176:Zfp408 UTSW 2 91,478,150 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGCTCTTGCAGGGGTAAAGG -3'
(R):5'- ACACACTGGCCACCAAGTTG -3'

Sequencing Primer
(F):5'- CGTCAGGTGCCTGCTTCTG -3'
(R):5'- GCCACCAAGTTGCGCCG -3'
Posted On 2022-01-20