Incidental Mutation 'R7698:Actn1'
ID 593800
Institutional Source Beutler Lab
Gene Symbol Actn1
Ensembl Gene ENSMUSG00000015143
Gene Name actinin, alpha 1
Synonyms 3110023F10Rik
MMRRC Submission 045759-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R7698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 80214321-80307145 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80221311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 581 (T581A)
Ref Sequence ENSEMBL: ENSMUSP00000021554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021554] [ENSMUST00000167327]
AlphaFold Q7TPR4
Predicted Effect probably benign
Transcript: ENSMUST00000021554
AA Change: T581A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021554
Gene: ENSMUSG00000015143
AA Change: T581A

DomainStartEndE-ValueType
CH 33 133 4.24e-23 SMART
CH 146 245 5.06e-21 SMART
Pfam:Spectrin 274 384 5.9e-17 PFAM
SPEC 397 498 1.69e-25 SMART
SPEC 512 619 1.47e-2 SMART
Pfam:Spectrin 630 733 4.7e-14 PFAM
EFh 750 778 1.73e-5 SMART
EFh 791 819 8.13e-2 SMART
efhand_Ca_insen 822 888 5.22e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167327
AA Change: T581A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127176
Gene: ENSMUSG00000015143
AA Change: T581A

DomainStartEndE-ValueType
CH 33 133 4.24e-23 SMART
CH 146 245 5.06e-21 SMART
Pfam:Spectrin 274 384 1.7e-17 PFAM
SPEC 397 498 1.69e-25 SMART
SPEC 512 619 1.47e-2 SMART
Pfam:Spectrin 630 733 8.4e-14 PFAM
EFh 750 778 1.36e0 SMART
EFh 786 814 8.13e-2 SMART
efhand_Ca_insen 817 883 5.22e-38 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik C A 14: 33,774,570 (GRCm39) L140F unknown Het
Ak9 T C 10: 41,224,072 (GRCm39) L495S Het
Aldh5a1 T C 13: 25,095,731 (GRCm39) D462G probably damaging Het
Amz2 A G 11: 109,319,833 (GRCm39) D73G probably damaging Het
Ank2 A G 3: 126,825,860 (GRCm39) Y361H probably benign Het
Atp8b1 A G 18: 64,704,093 (GRCm39) Y342H probably benign Het
Atp8b5 C T 4: 43,366,735 (GRCm39) T833I probably benign Het
Camkk2 A G 5: 122,884,482 (GRCm39) I313T probably damaging Het
Cdk18 T C 1: 132,050,116 (GRCm39) T20A probably damaging Het
Cenpf A T 1: 189,394,269 (GRCm39) C479S probably benign Het
Cfap221 C A 1: 119,889,659 (GRCm39) E192* probably null Het
Cfap44 C T 16: 44,254,149 (GRCm39) H958Y probably damaging Het
Cic A T 7: 24,972,597 (GRCm39) Q776L possibly damaging Het
Cldn17 C A 16: 88,303,244 (GRCm39) G162* probably null Het
Col19a1 T A 1: 24,351,159 (GRCm39) Y748F probably benign Het
Col27a1 C T 4: 63,143,955 (GRCm39) P548S possibly damaging Het
Cracdl T G 1: 37,664,452 (GRCm39) E482A probably benign Het
Ctsr T A 13: 61,310,381 (GRCm39) M92L probably benign Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Defa34 G T 8: 22,156,645 (GRCm39) C91F probably damaging Het
Dennd2c G A 3: 103,072,359 (GRCm39) V815I possibly damaging Het
Dlgap4 C T 2: 156,591,015 (GRCm39) Q734* probably null Het
Dph1 A T 11: 75,081,267 (GRCm39) S7T probably benign Het
Dpp8 T C 9: 64,949,618 (GRCm39) V121A probably benign Het
Dst G A 1: 34,229,468 (GRCm39) G2354S probably benign Het
Duox2 A T 2: 122,111,245 (GRCm39) L1453Q probably damaging Het
Ecpas C G 4: 58,832,660 (GRCm39) C900S unknown Het
Exosc10 T A 4: 148,642,955 (GRCm39) S11T probably benign Het
Fetub A G 16: 22,758,059 (GRCm39) T281A probably benign Het
Flii A T 11: 60,610,918 (GRCm39) W504R probably damaging Het
Gm5093 T C 17: 46,750,866 (GRCm39) R54G possibly damaging Het
Gmcl1 T C 6: 86,684,397 (GRCm39) D375G probably benign Het
Hikeshi A T 7: 89,572,889 (GRCm39) N101K probably benign Het
Hmcn2 T C 2: 31,313,165 (GRCm39) V3458A probably damaging Het
Hspa2 A G 12: 76,452,083 (GRCm39) N259S possibly damaging Het
Irf6 T C 1: 192,844,075 (GRCm39) I110T probably damaging Het
Kcnj8 T A 6: 142,511,479 (GRCm39) H376L probably damaging Het
Kdm6b G A 11: 69,296,807 (GRCm39) P487S probably benign Het
Lcp1 C A 14: 75,443,651 (GRCm39) Y222* probably null Het
Manea T C 4: 26,327,763 (GRCm39) D426G probably damaging Het
Map3k20 G T 2: 72,195,025 (GRCm39) E101* probably null Het
Map3k20 C G 2: 72,268,658 (GRCm39) S555C probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myo6 C T 9: 80,124,938 (GRCm39) P6S unknown Het
Myoc A T 1: 162,467,014 (GRCm39) Q61L probably damaging Het
N4bp2 T A 5: 65,965,500 (GRCm39) M1183K probably benign Het
Or52e7 T A 7: 104,685,114 (GRCm39) H236Q probably benign Het
Or5b114-ps1 T C 19: 13,352,404 (GRCm39) F26S probably damaging Het
Or5b21 T C 19: 12,840,077 (GRCm39) S313P possibly damaging Het
Or8b40 T A 9: 38,027,188 (GRCm39) L37* probably null Het
Osbpl11 C G 16: 33,054,817 (GRCm39) N633K probably benign Het
Pate7 T C 9: 35,688,472 (GRCm39) M38V probably benign Het
Pcdhgb5 A G 18: 37,865,684 (GRCm39) E493G probably damaging Het
Phf20 T A 2: 156,136,058 (GRCm39) W626R probably damaging Het
Pkp2 C A 16: 16,058,523 (GRCm39) Q402K probably benign Het
Plch2 C T 4: 155,087,244 (GRCm39) D336N possibly damaging Het
Plk1 T C 7: 121,768,481 (GRCm39) F535L probably damaging Het
Ppp1r9a A T 6: 4,906,430 (GRCm39) E328D probably benign Het
Prss44 G A 9: 110,646,379 (GRCm39) V369M probably benign Het
Rilp A G 11: 75,401,798 (GRCm39) S193G probably benign Het
Rusc2 C T 4: 43,414,900 (GRCm39) Q69* probably null Het
Ryr2 T C 13: 11,776,201 (GRCm39) D1112G possibly damaging Het
Smc6 A G 12: 11,333,141 (GRCm39) R238G possibly damaging Het
Spen A G 4: 141,200,156 (GRCm39) S2824P probably damaging Het
Stk4 T C 2: 163,925,663 (GRCm39) M77T probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Thsd1 C T 8: 22,749,003 (GRCm39) R625* probably null Het
Tle3 A T 9: 61,320,138 (GRCm39) N522I probably damaging Het
Tmcc1 C A 6: 116,020,763 (GRCm39) E230* probably null Het
Vmn2r90 T C 17: 17,953,596 (GRCm39) S587P probably benign Het
Wt1 A T 2: 104,957,161 (GRCm39) Q7L probably benign Het
Zfhx2 T C 14: 55,300,306 (GRCm39) I2482V probably benign Het
Zfpm2 A T 15: 40,959,487 (GRCm39) I189F probably benign Het
Other mutations in Actn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Actn1 APN 12 80,245,846 (GRCm39) splice site probably null
IGL01152:Actn1 APN 12 80,245,820 (GRCm39) missense probably damaging 1.00
IGL01386:Actn1 APN 12 80,240,446 (GRCm39) missense probably benign 0.03
IGL01890:Actn1 APN 12 80,231,642 (GRCm39) missense probably damaging 0.99
IGL01937:Actn1 APN 12 80,218,537 (GRCm39) missense probably benign 0.03
IGL02142:Actn1 APN 12 80,222,929 (GRCm39) critical splice donor site probably null
IGL02191:Actn1 APN 12 80,220,883 (GRCm39) missense probably benign
IGL02217:Actn1 APN 12 80,220,868 (GRCm39) nonsense probably null
IGL02230:Actn1 APN 12 80,218,604 (GRCm39) missense probably benign 0.02
IGL03163:Actn1 APN 12 80,228,191 (GRCm39) missense probably benign 0.33
IGL03401:Actn1 APN 12 80,215,741 (GRCm39) nonsense probably null
R0538:Actn1 UTSW 12 80,306,874 (GRCm39) unclassified probably benign
R0546:Actn1 UTSW 12 80,225,208 (GRCm39) missense probably benign
R0583:Actn1 UTSW 12 80,245,803 (GRCm39) missense probably damaging 1.00
R0606:Actn1 UTSW 12 80,221,421 (GRCm39) splice site probably benign
R1340:Actn1 UTSW 12 80,219,918 (GRCm39) critical splice acceptor site probably null
R1519:Actn1 UTSW 12 80,251,852 (GRCm39) missense probably damaging 1.00
R1572:Actn1 UTSW 12 80,219,731 (GRCm39) splice site probably benign
R1619:Actn1 UTSW 12 80,219,796 (GRCm39) missense probably damaging 1.00
R1677:Actn1 UTSW 12 80,306,806 (GRCm39) missense probably benign 0.02
R1994:Actn1 UTSW 12 80,251,745 (GRCm39) nonsense probably null
R2102:Actn1 UTSW 12 80,230,291 (GRCm39) missense probably benign 0.38
R2157:Actn1 UTSW 12 80,219,891 (GRCm39) missense probably benign 0.04
R2191:Actn1 UTSW 12 80,218,576 (GRCm39) nonsense probably null
R2519:Actn1 UTSW 12 80,239,163 (GRCm39) missense probably damaging 1.00
R2988:Actn1 UTSW 12 80,239,162 (GRCm39) missense possibly damaging 0.78
R4024:Actn1 UTSW 12 80,215,251 (GRCm39) missense probably damaging 1.00
R4589:Actn1 UTSW 12 80,218,573 (GRCm39) missense possibly damaging 0.53
R4907:Actn1 UTSW 12 80,228,188 (GRCm39) missense probably damaging 0.99
R4936:Actn1 UTSW 12 80,219,772 (GRCm39) missense probably benign 0.09
R4966:Actn1 UTSW 12 80,219,904 (GRCm39) missense probably benign 0.01
R4972:Actn1 UTSW 12 80,219,813 (GRCm39) missense probably benign 0.35
R5395:Actn1 UTSW 12 80,217,477 (GRCm39) missense probably benign
R5460:Actn1 UTSW 12 80,230,342 (GRCm39) missense probably benign 0.00
R5467:Actn1 UTSW 12 80,222,991 (GRCm39) missense possibly damaging 0.86
R5470:Actn1 UTSW 12 80,215,715 (GRCm39) missense probably damaging 0.99
R5661:Actn1 UTSW 12 80,231,618 (GRCm39) missense probably benign 0.09
R5985:Actn1 UTSW 12 80,215,169 (GRCm39) missense probably damaging 1.00
R6020:Actn1 UTSW 12 80,221,229 (GRCm39) splice site probably null
R6042:Actn1 UTSW 12 80,224,023 (GRCm39) missense probably benign 0.04
R6389:Actn1 UTSW 12 80,221,296 (GRCm39) missense probably benign
R6499:Actn1 UTSW 12 80,215,191 (GRCm39) missense possibly damaging 0.59
R6709:Actn1 UTSW 12 80,240,418 (GRCm39) missense probably damaging 1.00
R7016:Actn1 UTSW 12 80,219,742 (GRCm39) missense possibly damaging 0.94
R7116:Actn1 UTSW 12 80,251,751 (GRCm39) missense probably damaging 1.00
R7173:Actn1 UTSW 12 80,224,033 (GRCm39) missense possibly damaging 0.70
R7183:Actn1 UTSW 12 80,215,706 (GRCm39) missense possibly damaging 0.87
R7291:Actn1 UTSW 12 80,220,859 (GRCm39) missense probably benign 0.00
R7361:Actn1 UTSW 12 80,240,489 (GRCm39) missense probably benign 0.01
R7452:Actn1 UTSW 12 80,230,376 (GRCm39) missense probably benign 0.12
R7701:Actn1 UTSW 12 80,221,328 (GRCm39) missense possibly damaging 0.88
R8000:Actn1 UTSW 12 80,245,782 (GRCm39) missense probably damaging 1.00
R8171:Actn1 UTSW 12 80,243,167 (GRCm39) critical splice donor site probably null
R8287:Actn1 UTSW 12 80,220,852 (GRCm39) critical splice donor site probably null
R8469:Actn1 UTSW 12 80,240,457 (GRCm39) missense possibly damaging 0.95
R8794:Actn1 UTSW 12 80,245,754 (GRCm39) critical splice donor site probably benign
R8887:Actn1 UTSW 12 80,215,197 (GRCm39) missense probably damaging 1.00
R9237:Actn1 UTSW 12 80,240,470 (GRCm39) missense possibly damaging 0.92
R9269:Actn1 UTSW 12 80,219,745 (GRCm39) missense probably benign 0.01
R9520:Actn1 UTSW 12 80,240,417 (GRCm39) missense probably damaging 1.00
R9526:Actn1 UTSW 12 80,230,393 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGCCAGATACCTCAAAGG -3'
(R):5'- TACTGTGTCTGAGGAGAGGAGC -3'

Sequencing Primer
(F):5'- AGTGAAGATGTCAACTTGGTCTAG -3'
(R):5'- TGTCTGAGGAGAGGAGCCCTTC -3'
Posted On 2019-11-12