Incidental Mutation 'R7161:Serac1'
ID 557606
Institutional Source Beutler Lab
Gene Symbol Serac1
Ensembl Gene ENSMUSG00000015659
Gene Name serine active site containing 1
Synonyms 4930511N22Rik, D17Ertd141e
MMRRC Submission 045260-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7161 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 6042196-6079741 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6065076 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 204 (D204G)
Ref Sequence ENSEMBL: ENSMUSP00000095043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024570] [ENSMUST00000097432]
AlphaFold Q3U213
Predicted Effect probably benign
Transcript: ENSMUST00000024570
AA Change: D174G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659
AA Change: D174G

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
low complexity region 161 169 N/A INTRINSIC
low complexity region 202 215 N/A INTRINSIC
SCOP:d1jdha_ 243 336 3e-5 SMART
Pfam:PGAP1 360 519 3.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097432
AA Change: D204G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659
AA Change: D204G

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
SCOP:d1gw5a_ 89 464 3e-6 SMART
Meta Mutation Damage Score 0.0689 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,074,142 (GRCm38) Q443L probably benign Het
Acad12 A T 5: 121,607,373 (GRCm38) M285K probably damaging Het
Afdn T A 17: 13,888,946 (GRCm38) M1592K possibly damaging Het
Bpifb9b A T 2: 154,313,615 (GRCm38) T345S possibly damaging Het
Bub1b A G 2: 118,626,053 (GRCm38) E526G probably damaging Het
Car13 A G 3: 14,645,208 (GRCm38) D70G probably benign Het
Castor2 C A 5: 134,135,190 (GRCm38) T75N probably damaging Het
Ccdc127 A T 13: 74,352,877 (GRCm38) L4F probably damaging Het
Ccng2 C G 5: 93,273,343 (GRCm38) S237R probably benign Het
Ccr10 A G 11: 101,174,278 (GRCm38) I142T probably benign Het
Cep126 C T 9: 8,087,399 (GRCm38) V1005M probably benign Het
Chil6 A G 3: 106,394,412 (GRCm38) I124T probably benign Het
Coq8a A G 1: 180,170,341 (GRCm38) probably null Het
Ctf2 T A 7: 127,719,304 (GRCm38) K174N probably damaging Het
Dapk1 T C 13: 60,696,395 (GRCm38) V76A possibly damaging Het
Disp1 A G 1: 183,087,625 (GRCm38) M1077T possibly damaging Het
Dnaaf9 C A 2: 130,806,788 (GRCm38) R258L unknown Het
Dnah9 T A 11: 65,855,372 (GRCm38) K3972* probably null Het
Dnai4 G A 4: 103,096,616 (GRCm38) P129S probably benign Het
Dusp7 T A 9: 106,368,915 (GRCm38) S40T unknown Het
Emg1 T C 6: 124,705,749 (GRCm38) T88A probably benign Het
Fbxo5 A G 10: 5,802,043 (GRCm38) V190A possibly damaging Het
Fbxw20 T G 9: 109,225,980 (GRCm38) D167A probably damaging Het
Fes A T 7: 80,380,861 (GRCm38) V562E probably damaging Het
Foxj1 C G 11: 116,332,408 (GRCm38) G190R probably damaging Het
Gdf15 T G 8: 70,631,342 (GRCm38) S91R possibly damaging Het
Gm4846 C A 1: 166,487,010 (GRCm38) V355F probably damaging Het
Herc4 T A 10: 63,308,415 (GRCm38) Y776N probably benign Het
Hspg2 G A 4: 137,514,719 (GRCm38) R588H probably damaging Het
Igkv6-25 T A 6: 70,215,778 (GRCm38) Y56* probably null Het
Itpr1 C T 6: 108,386,640 (GRCm38) A741V probably damaging Het
Kbtbd8 T A 6: 95,126,696 (GRCm38) I519K probably benign Het
Kcnh5 T A 12: 74,897,709 (GRCm38) Q922L probably benign Het
Kiss1r T C 10: 79,919,489 (GRCm38) Y103H probably damaging Het
Knl1 A G 2: 119,070,785 (GRCm38) E989G possibly damaging Het
Lamc1 A T 1: 153,226,454 (GRCm38) L1466Q probably damaging Het
Lap3 C T 5: 45,498,467 (GRCm38) P138L probably benign Het
Lhx1 G A 11: 84,519,872 (GRCm38) P300S probably damaging Het
Mppe1 G A 18: 67,229,771 (GRCm38) A131V probably benign Het
Neb A T 2: 52,271,592 (GRCm38) Y2063N probably damaging Het
Nfe2l1 A G 11: 96,817,720 (GRCm38) F740L probably benign Het
Nop10 A G 2: 112,262,046 (GRCm38) N8S probably benign Het
Opalin T A 19: 41,069,935 (GRCm38) T20S possibly damaging Het
Or8h7 A C 2: 86,890,649 (GRCm38) H175Q probably benign Het
Pask C T 1: 93,310,905 (GRCm38) S1286N probably benign Het
Pcdhgc4 A T 18: 37,815,663 (GRCm38) E44V probably damaging Het
Pde1a A G 2: 79,865,214 (GRCm38) M463T probably benign Het
Pde6a A T 18: 61,281,525 (GRCm38) M714L probably benign Het
Pik3c2b A G 1: 133,106,112 (GRCm38) E1618G probably damaging Het
Pou2f3 T C 9: 43,139,363 (GRCm38) N234S probably damaging Het
Ptprm T A 17: 66,809,627 (GRCm38) T886S probably benign Het
Rab11fip3 C A 17: 26,069,090 (GRCm38) D30Y probably benign Het
Rassf10 A T 7: 112,954,500 (GRCm38) I103F probably damaging Het
Rfc4 A G 16: 23,115,433 (GRCm38) I206T probably benign Het
Rhcg A G 7: 79,617,441 (GRCm38) F29S probably damaging Het
Sec11c A G 18: 65,812,732 (GRCm38) I89V probably benign Het
Serpinb3c T C 1: 107,273,162 (GRCm38) N175S probably null Het
Slc25a19 C T 11: 115,616,547 (GRCm38) E250K possibly damaging Het
Slc9a8 A T 2: 167,465,383 (GRCm38) Y329F possibly damaging Het
Smagp T C 15: 100,636,245 (GRCm38) probably benign Het
Spats1 T A 17: 45,449,169 (GRCm38) Q268H probably benign Het
Spef2 T C 15: 9,717,603 (GRCm38) T219A probably benign Het
Spink13 A G 18: 62,614,955 (GRCm38) M11T probably benign Het
Susd1 T C 4: 59,329,581 (GRCm38) D669G possibly damaging Het
Svep1 A G 4: 58,128,859 (GRCm38) Y613H possibly damaging Het
Tcp10b T C 17: 13,081,746 (GRCm38) *439Q probably null Het
Tmed2 T A 5: 124,546,920 (GRCm38) M133K possibly damaging Het
Trpv5 A T 6: 41,660,536 (GRCm38) Y370* probably null Het
Ttn A G 2: 76,812,244 (GRCm38) S13316P probably damaging Het
Uap1l1 A T 2: 25,363,280 (GRCm38) M381K probably damaging Het
Wdr26 A G 1: 181,203,130 (GRCm38) Y200H probably damaging Het
Zfhx4 A T 3: 5,244,083 (GRCm38) M790L possibly damaging Het
Zscan25 T C 5: 145,286,441 (GRCm38) L173P probably benign Het
Other mutations in Serac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Serac1 APN 17 6,074,253 (GRCm38) splice site probably benign
IGL02642:Serac1 APN 17 6,045,746 (GRCm38) missense possibly damaging 0.56
IGL02972:Serac1 APN 17 6,070,764 (GRCm38) nonsense probably null
FR4304:Serac1 UTSW 17 6,070,808 (GRCm38) missense probably damaging 1.00
FR4340:Serac1 UTSW 17 6,070,808 (GRCm38) missense probably damaging 1.00
FR4342:Serac1 UTSW 17 6,070,808 (GRCm38) missense probably damaging 1.00
FR4589:Serac1 UTSW 17 6,070,808 (GRCm38) missense probably damaging 1.00
PIT4480001:Serac1 UTSW 17 6,050,812 (GRCm38) missense probably damaging 1.00
R0076:Serac1 UTSW 17 6,064,937 (GRCm38) splice site probably benign
R0076:Serac1 UTSW 17 6,064,937 (GRCm38) splice site probably benign
R0127:Serac1 UTSW 17 6,048,840 (GRCm38) missense probably damaging 1.00
R0211:Serac1 UTSW 17 6,050,060 (GRCm38) missense possibly damaging 0.67
R0245:Serac1 UTSW 17 6,051,756 (GRCm38) missense probably damaging 1.00
R0538:Serac1 UTSW 17 6,048,826 (GRCm38) splice site probably benign
R0652:Serac1 UTSW 17 6,051,756 (GRCm38) missense probably damaging 1.00
R0988:Serac1 UTSW 17 6,061,580 (GRCm38) missense probably benign 0.02
R1965:Serac1 UTSW 17 6,048,999 (GRCm38) missense possibly damaging 0.72
R1984:Serac1 UTSW 17 6,045,689 (GRCm38) splice site probably null
R2145:Serac1 UTSW 17 6,050,785 (GRCm38) missense probably damaging 1.00
R3426:Serac1 UTSW 17 6,066,778 (GRCm38) missense probably benign 0.04
R3921:Serac1 UTSW 17 6,066,792 (GRCm38) missense probably damaging 1.00
R4760:Serac1 UTSW 17 6,051,790 (GRCm38) missense possibly damaging 0.69
R4958:Serac1 UTSW 17 6,069,382 (GRCm38) missense probably benign 0.15
R5552:Serac1 UTSW 17 6,056,692 (GRCm38) nonsense probably null
R5874:Serac1 UTSW 17 6,043,913 (GRCm38) unclassified probably benign
R5964:Serac1 UTSW 17 6,065,049 (GRCm38) missense probably benign
R6614:Serac1 UTSW 17 6,045,662 (GRCm38) missense probably damaging 1.00
R6794:Serac1 UTSW 17 6,051,710 (GRCm38) missense probably damaging 1.00
R6949:Serac1 UTSW 17 6,051,815 (GRCm38) missense probably damaging 1.00
R7157:Serac1 UTSW 17 6,074,201 (GRCm38) missense probably benign
R7426:Serac1 UTSW 17 6,069,314 (GRCm38) missense probably damaging 1.00
R8270:Serac1 UTSW 17 6,050,758 (GRCm38) missense probably damaging 1.00
R8733:Serac1 UTSW 17 6,050,028 (GRCm38) missense probably damaging 1.00
R8785:Serac1 UTSW 17 6,044,202 (GRCm38) missense probably damaging 0.99
R9057:Serac1 UTSW 17 6,061,615 (GRCm38) missense probably damaging 0.98
R9657:Serac1 UTSW 17 6,069,383 (GRCm38) missense probably benign 0.04
Z1088:Serac1 UTSW 17 6,048,918 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGCCCCAGCACAGTG -3'
(R):5'- GTAGCAGGGGTTGAAGCGTA -3'

Sequencing Primer
(F):5'- TGCCCTGGGAAAGTGTTAACAC -3'
(R):5'- AACCTTCACTTTGGTGGG -3'
Posted On 2019-06-26