Incidental Mutation 'R7438:Sertad4'
ID576710
Institutional Source Beutler Lab
Gene Symbol Sertad4
Ensembl Gene ENSMUSG00000016262
Gene NameSERTA domain containing 4
SynonymsC130018M11Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock #R7438 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location192844488-192855756 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 192846710 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 266 (H266L)
Ref Sequence ENSEMBL: ENSMUSP00000116176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016406] [ENSMUST00000155503] [ENSMUST00000155579]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016406
AA Change: H266L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016406
Gene: ENSMUSG00000016262
AA Change: H266L

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
Pfam:SERTA 108 144 1.1e-18 PFAM
low complexity region 212 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155503
SMART Domains Protein: ENSMUSP00000142132
Gene: ENSMUSG00000016262

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
Pfam:SERTA 108 144 1.5e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155579
AA Change: H266L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116176
Gene: ENSMUSG00000016262
AA Change: H266L

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
Pfam:SERTA 108 144 3.5e-20 PFAM
low complexity region 212 262 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (88/88)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,616,446 S425G probably benign Het
Adam29 A G 8: 55,871,574 I615T probably damaging Het
Arap2 A T 5: 62,749,475 I67N probably damaging Het
Asxl2 C T 12: 3,427,108 probably benign Het
Atp13a4 C T 16: 29,441,196 G607D Het
Atp2c2 G A 8: 119,748,197 V514M probably damaging Het
Baiap3 A G 17: 25,249,108 C311R possibly damaging Het
Becn1 A C 11: 101,294,226 S137R probably benign Het
C1qtnf6 G T 15: 78,525,374 T91K probably benign Het
C8a T C 4: 104,861,429 K110E probably damaging Het
Camta2 A G 11: 70,683,888 probably null Het
Capn8 T A 1: 182,598,675 Y192N probably damaging Het
Ccdc170 C T 10: 4,558,512 Q579* probably null Het
Cenpa G T 5: 30,666,948 probably benign Het
Cltc A G 11: 86,725,228 V404A probably benign Het
Cyp3a11 A T 5: 145,865,900 L261Q probably benign Het
Daw1 T A 1: 83,192,715 S249R probably benign Het
Dchs1 T A 7: 105,754,948 I2796F probably benign Het
Dis3l2 T C 1: 86,745,500 probably null Het
Dnah5 A T 15: 28,346,952 D2527V probably damaging Het
Dsg4 G A 18: 20,466,628 R767Q probably damaging Het
Edaradd A G 13: 12,478,457 I118T probably damaging Het
Fam60a A G 6: 148,933,102 Y10H probably benign Het
Fam83h A G 15: 76,004,426 F354S possibly damaging Het
Fat3 A G 9: 15,988,482 V3085A probably benign Het
Fer A G 17: 64,133,521 D711G possibly damaging Het
G6pc G T 11: 101,376,677 V318F probably benign Het
Gal3st1 C A 11: 3,998,227 H145N probably benign Het
Gm13088 T C 4: 143,655,560 I189V probably damaging Het
Helz C T 11: 107,662,030 P1211S probably damaging Het
Herc1 A G 9: 66,394,756 I667V probably benign Het
Herc2 T A 7: 56,103,718 probably null Het
Hivep1 C T 13: 42,154,911 T209I probably damaging Het
Hsph1 A G 5: 149,619,020 Y678H probably damaging Het
Ift122 C T 6: 115,926,302 R1176C probably benign Het
Ighv1-23 T C 12: 114,764,475 D109G probably damaging Het
Itgb3 T C 11: 104,643,577 V420A possibly damaging Het
Kcnk13 C A 12: 100,061,726 N353K probably damaging Het
Kif21a A G 15: 90,993,796 F270L probably benign Het
Kit T A 5: 75,639,000 V464D probably benign Het
Klhl36 G A 8: 119,870,175 W205* probably null Het
Krt17 A G 11: 100,258,465 Y260H probably damaging Het
Lats1 C T 10: 7,712,942 Q1108* probably null Het
Lrch1 G A 14: 74,757,037 T709I possibly damaging Het
Lrrc58 C A 16: 37,868,691 Q66K probably benign Het
Mei1 G A 15: 82,115,481 A664T Het
Mtmr6 C T 14: 60,300,304 T546M probably benign Het
Ncoa3 T A 2: 166,068,529 F1288L probably damaging Het
Nwd1 G T 8: 72,707,830 V1352L probably benign Het
Olfr1283 T A 2: 111,369,362 H243Q probably damaging Het
Olfr199 A T 16: 59,216,398 C72S probably benign Het
Ovol3 C T 7: 30,235,221 probably null Het
Palb2 C A 7: 122,117,331 V843L probably damaging Het
Pds5a T A 5: 65,652,535 probably null Het
Per1 A G 11: 69,104,735 S714G possibly damaging Het
Plch2 G A 4: 155,000,460 R442C probably damaging Het
Pon2 A T 6: 5,289,080 S26R probably benign Het
Ppp1r9a A T 6: 5,115,378 N834Y probably damaging Het
Rbm46 C T 3: 82,842,488 W483* probably null Het
Rnd1 A T 15: 98,673,901 V88E probably damaging Het
Sbno2 T A 10: 80,069,575 T142S unknown Het
Scn9a C T 2: 66,547,187 V384M possibly damaging Het
Setd5 T A 6: 113,115,082 M288K possibly damaging Het
Sfxn4 T A 19: 60,857,361 N66Y probably damaging Het
Skint6 T A 4: 113,238,228 N78I probably damaging Het
Sltm G T 9: 70,573,466 G200V unknown Het
Smg1 A G 7: 118,195,893 I477T unknown Het
Supv3l1 C T 10: 62,430,470 probably null Het
Syne2 A G 12: 76,015,563 R4220G probably benign Het
Tbr1 A T 2: 61,804,817 H37L possibly damaging Het
Tet3 TGGCCCAGGCCCAGGC TGGCCCAGGCCCAGGCCCAGGC 6: 83,368,229 probably benign Het
Tmem231 G T 8: 111,918,408 S155R probably damaging Het
Trem3 A G 17: 48,258,470 *184W probably null Het
Trim33 T A 3: 103,346,640 probably benign Het
Tsen2 G A 6: 115,559,982 W233* probably null Het
Ttc21a T A 9: 119,945,539 N286K probably damaging Het
Tulp4 A T 17: 6,198,708 M194L probably benign Het
Ube3b C A 5: 114,415,284 R906S possibly damaging Het
Ube3b A C 5: 114,418,626 D1006A probably damaging Het
Vipas39 A T 12: 87,241,931 probably null Het
Wdr35 T A 12: 9,022,785 Y920N probably damaging Het
Zan T G 5: 137,425,562 I2692L unknown Het
Zfp142 C A 1: 74,585,520 E48D probably benign Het
Zfp598 T C 17: 24,677,530 Y194H probably damaging Het
Zfp85 T C 13: 67,748,945 N336S probably benign Het
Zfyve27 A T 19: 42,189,520 probably null Het
Zp3 T C 5: 135,982,705 S126P probably damaging Het
Other mutations in Sertad4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01974:Sertad4 APN 1 192846966 nonsense probably null
R1531:Sertad4 UTSW 1 192850950 critical splice donor site probably null
R1783:Sertad4 UTSW 1 192847032 missense probably benign 0.00
R4106:Sertad4 UTSW 1 192846742 small deletion probably benign
R5165:Sertad4 UTSW 1 192846822 missense possibly damaging 0.85
R5362:Sertad4 UTSW 1 192847106 missense probably damaging 1.00
R6243:Sertad4 UTSW 1 192850949 splice site probably null
R8019:Sertad4 UTSW 1 192846521 missense not run
RF001:Sertad4 UTSW 1 192847178 missense probably damaging 1.00
Z1088:Sertad4 UTSW 1 192847031 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGGCCTTTGCACTCAAAATC -3'
(R):5'- TACCCCTCTCTGTCAATACAAGTG -3'

Sequencing Primer
(F):5'- TTGCACTCAAAATCAAGGTCGTTCC -3'
(R):5'- TACAAGTGTTGGAAGCACCTC -3'
Posted On2019-10-07