Incidental Mutation 'R6531:Speg'
ID 522307
Institutional Source Beutler Lab
Gene Symbol Speg
Ensembl Gene ENSMUSG00000026207
Gene Name SPEG complex locus
Synonyms SPEGbeta, Apeg1, SPEGalpha, D1Bwg1450e, SPEG, BPEG
MMRRC Submission 044657-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6531 (G1)
Quality Score 171.009
Status Validated
Chromosome 1
Chromosomal Location 75375297-75432320 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75422757 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 2283 (F2283I)
Ref Sequence ENSEMBL: ENSMUSP00000084361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087122]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000087122
AA Change: F2283I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000084361
Gene: ENSMUSG00000026207
AA Change: F2283I

DomainStartEndE-ValueType
IG 51 128 1.48e-6 SMART
low complexity region 292 318 N/A INTRINSIC
low complexity region 325 338 N/A INTRINSIC
low complexity region 359 368 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
low complexity region 573 584 N/A INTRINSIC
IGc2 739 806 2.19e-9 SMART
Pfam:SPEG_u2 817 873 2.4e-36 PFAM
IGc2 886 954 4.03e-8 SMART
IG 979 1064 1.05e-6 SMART
IGc2 1081 1148 2.19e-9 SMART
IG 1199 1283 6.87e-2 SMART
FN3 1287 1373 1.38e-4 SMART
IG 1401 1487 2.64e-3 SMART
IGc2 1502 1569 1.12e-6 SMART
STYKc 1606 1859 8.44e-63 SMART
Blast:STYKc 1861 1895 6e-12 BLAST
low complexity region 1918 1939 N/A INTRINSIC
low complexity region 2069 2081 N/A INTRINSIC
low complexity region 2208 2227 N/A INTRINSIC
low complexity region 2230 2249 N/A INTRINSIC
low complexity region 2255 2269 N/A INTRINSIC
low complexity region 2343 2366 N/A INTRINSIC
low complexity region 2410 2422 N/A INTRINSIC
low complexity region 2433 2451 N/A INTRINSIC
low complexity region 2457 2487 N/A INTRINSIC
low complexity region 2524 2544 N/A INTRINSIC
IGc2 2599 2667 2.05e-9 SMART
FN3 2681 2760 2.5e-2 SMART
low complexity region 2775 2789 N/A INTRINSIC
low complexity region 2802 2831 N/A INTRINSIC
low complexity region 2912 2927 N/A INTRINSIC
STYKc 2961 3213 4.42e-66 SMART
low complexity region 3241 3250 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000137868
AA Change: F2030I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143679
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.6%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants that encode different protein isoforms have been defined. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,949,999 E880G possibly damaging Het
Acsbg2 T A 17: 56,846,617 I529F probably damaging Het
Ahcyl2 T G 6: 29,886,162 M359R probably benign Het
Aldh5a1 G T 13: 24,918,564 D305E probably benign Het
Catsper2 C G 2: 121,399,780 V358L possibly damaging Het
Cd200r4 C T 16: 44,833,505 Q222* probably null Het
Col4a2 T A 8: 11,408,135 D270E probably benign Het
Cux1 T C 5: 136,275,119 D1401G probably benign Het
Cyp3a59 T A 5: 146,098,217 M235K probably benign Het
Dock3 T C 9: 106,967,216 D895G probably benign Het
Dusp27 A T 1: 166,110,046 probably null Het
Dync1h1 T C 12: 110,617,920 F586L probably damaging Het
Elmo1 G T 13: 20,572,446 R568L possibly damaging Het
Epb41 T C 4: 131,957,636 T711A probably benign Het
Grm7 T A 6: 111,358,425 M599K probably benign Het
Hivep3 A T 4: 120,122,876 K1704* probably null Het
Ighv1-62-3 C A 12: 115,461,006 C115F probably damaging Het
Krt78 A G 15: 101,952,273 Y200H probably benign Het
Lamb2 A T 9: 108,483,726 H549L possibly damaging Het
Mroh3 A G 1: 136,184,353 I759T probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,956,343 probably null Het
Nol6 G T 4: 41,118,154 P828T probably benign Het
Olfr1030 A G 2: 85,984,307 I156V probably benign Het
Olfr1132 A G 2: 87,635,529 Y73H probably damaging Het
Olfr1264 A G 2: 90,021,457 V203A probably benign Het
Olfr344 G A 2: 36,569,341 V248I probably damaging Het
Ovgp1 A C 3: 105,987,071 probably benign Het
Pitpnm3 T A 11: 72,071,487 Q230L possibly damaging Het
Pkn1 C T 8: 83,670,293 V910I probably benign Het
Plcb1 T A 2: 135,325,802 probably null Het
Ppp1r12c A G 7: 4,482,789 probably null Het
Rassf5 T A 1: 131,244,814 Q106L possibly damaging Het
Rfc1 T C 5: 65,312,979 K62E possibly damaging Het
Sf3b1 C T 1: 55,019,395 E12K probably damaging Het
Slc4a1ap A T 5: 31,548,638 D691V probably benign Het
Synj2 A G 17: 6,033,839 K267E probably damaging Het
Tg A T 15: 66,839,362 Y991F probably damaging Het
Tlk1 A T 2: 70,742,083 D380E probably benign Het
Trim43b A T 9: 89,085,365 L405H probably damaging Het
Ttf2 A G 3: 100,956,260 I586T probably damaging Het
Ugt2b36 T A 5: 87,081,586 R213S probably damaging Het
Vmn1r198 T A 13: 22,354,407 M21K probably benign Het
Wdr35 A T 12: 8,978,685 Y101F probably benign Het
Zfp367 T C 13: 64,144,250 Y189C probably damaging Het
Other mutations in Speg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Speg APN 1 75,410,390 (GRCm38) missense possibly damaging 0.95
IGL00979:Speg APN 1 75,410,734 (GRCm38) missense probably damaging 0.98
IGL01122:Speg APN 1 75,410,035 (GRCm38) missense probably damaging 1.00
IGL01293:Speg APN 1 75,388,102 (GRCm38) missense probably damaging 1.00
IGL01304:Speg APN 1 75,428,197 (GRCm38) missense probably benign 0.00
IGL01351:Speg APN 1 75,411,276 (GRCm38) splice site probably benign
IGL01473:Speg APN 1 75,428,285 (GRCm38) missense possibly damaging 0.53
IGL01477:Speg APN 1 75,391,897 (GRCm38) missense probably damaging 1.00
IGL01485:Speg APN 1 75,387,827 (GRCm38) missense probably damaging 1.00
IGL01584:Speg APN 1 75,430,937 (GRCm38) missense probably damaging 1.00
IGL01959:Speg APN 1 75,391,090 (GRCm38) missense probably damaging 1.00
IGL02231:Speg APN 1 75,423,387 (GRCm38) missense probably damaging 1.00
IGL02355:Speg APN 1 75,423,915 (GRCm38) missense possibly damaging 0.49
IGL02362:Speg APN 1 75,423,915 (GRCm38) missense possibly damaging 0.49
IGL03013:Speg APN 1 75,431,279 (GRCm38) missense probably damaging 0.97
IGL03168:Speg APN 1 75,388,187 (GRCm38) missense probably damaging 1.00
H8562:Speg UTSW 1 75,415,597 (GRCm38) missense probably benign 0.39
R0112:Speg UTSW 1 75,385,032 (GRCm38) missense possibly damaging 0.92
R0311:Speg UTSW 1 75,430,937 (GRCm38) missense probably damaging 1.00
R0315:Speg UTSW 1 75,415,136 (GRCm38) missense possibly damaging 0.88
R0393:Speg UTSW 1 75,423,924 (GRCm38) missense possibly damaging 0.46
R0403:Speg UTSW 1 75,430,784 (GRCm38) splice site probably benign
R0483:Speg UTSW 1 75,385,032 (GRCm38) missense possibly damaging 0.92
R0648:Speg UTSW 1 75,427,978 (GRCm38) missense probably benign
R0683:Speg UTSW 1 75,429,118 (GRCm38) missense probably damaging 1.00
R0800:Speg UTSW 1 75,423,489 (GRCm38) missense probably damaging 1.00
R0815:Speg UTSW 1 75,415,392 (GRCm38) missense probably damaging 1.00
R0835:Speg UTSW 1 75,375,674 (GRCm38) missense probably benign 0.00
R0866:Speg UTSW 1 75,417,083 (GRCm38) missense probably damaging 0.99
R0880:Speg UTSW 1 75,405,061 (GRCm38) missense probably damaging 1.00
R1082:Speg UTSW 1 75,415,138 (GRCm38) missense possibly damaging 0.94
R1140:Speg UTSW 1 75,429,095 (GRCm38) missense probably damaging 1.00
R1252:Speg UTSW 1 75,427,095 (GRCm38) missense probably damaging 1.00
R1301:Speg UTSW 1 75,401,501 (GRCm38) missense probably damaging 1.00
R1348:Speg UTSW 1 75,422,872 (GRCm38) missense probably damaging 0.99
R1388:Speg UTSW 1 75,430,460 (GRCm38) missense probably damaging 0.99
R1465:Speg UTSW 1 75,428,484 (GRCm38) splice site probably benign
R1505:Speg UTSW 1 75,375,542 (GRCm38) missense probably benign 0.02
R1506:Speg UTSW 1 75,417,663 (GRCm38) missense probably benign 0.03
R1531:Speg UTSW 1 75,401,222 (GRCm38) missense possibly damaging 0.86
R1543:Speg UTSW 1 75,421,951 (GRCm38) missense probably damaging 1.00
R1567:Speg UTSW 1 75,428,047 (GRCm38) missense probably benign
R1630:Speg UTSW 1 75,422,977 (GRCm38) missense probably damaging 1.00
R1667:Speg UTSW 1 75,410,549 (GRCm38) splice site probably benign
R1673:Speg UTSW 1 75,411,163 (GRCm38) missense possibly damaging 0.60
R1718:Speg UTSW 1 75,421,744 (GRCm38) missense possibly damaging 0.87
R1718:Speg UTSW 1 75,417,863 (GRCm38) missense probably benign 0.00
R1719:Speg UTSW 1 75,417,863 (GRCm38) missense probably benign 0.00
R1759:Speg UTSW 1 75,401,162 (GRCm38) missense possibly damaging 0.95
R1861:Speg UTSW 1 75,389,005 (GRCm38) missense probably damaging 1.00
R1874:Speg UTSW 1 75,423,906 (GRCm38) missense probably benign
R1936:Speg UTSW 1 75,431,408 (GRCm38) missense possibly damaging 0.93
R2192:Speg UTSW 1 75,417,727 (GRCm38) missense probably damaging 1.00
R2204:Speg UTSW 1 75,430,477 (GRCm38) missense probably benign 0.30
R2287:Speg UTSW 1 75,430,465 (GRCm38) missense possibly damaging 0.76
R2696:Speg UTSW 1 75,406,926 (GRCm38) missense probably benign 0.27
R2983:Speg UTSW 1 75,384,930 (GRCm38) missense possibly damaging 0.83
R3110:Speg UTSW 1 75,422,682 (GRCm38) nonsense probably null
R3112:Speg UTSW 1 75,422,682 (GRCm38) nonsense probably null
R3154:Speg UTSW 1 75,401,542 (GRCm38) missense probably damaging 1.00
R3720:Speg UTSW 1 75,426,782 (GRCm38) missense probably damaging 1.00
R3983:Speg UTSW 1 75,422,547 (GRCm38) missense probably benign 0.27
R4133:Speg UTSW 1 75,427,904 (GRCm38) missense probably benign
R4522:Speg UTSW 1 75,428,330 (GRCm38) missense probably damaging 1.00
R4564:Speg UTSW 1 75,391,834 (GRCm38) missense probably damaging 1.00
R4577:Speg UTSW 1 75,415,395 (GRCm38) missense probably damaging 1.00
R4858:Speg UTSW 1 75,421,735 (GRCm38) missense probably damaging 1.00
R4953:Speg UTSW 1 75,423,864 (GRCm38) missense possibly damaging 0.72
R4965:Speg UTSW 1 75,427,703 (GRCm38) missense probably damaging 1.00
R4967:Speg UTSW 1 75,387,869 (GRCm38) missense probably damaging 1.00
R5152:Speg UTSW 1 75,428,098 (GRCm38) missense possibly damaging 0.92
R5156:Speg UTSW 1 75,428,087 (GRCm38) missense probably damaging 0.99
R5371:Speg UTSW 1 75,431,393 (GRCm38) missense possibly damaging 0.50
R5550:Speg UTSW 1 75,429,100 (GRCm38) missense probably damaging 1.00
R5562:Speg UTSW 1 75,427,056 (GRCm38) missense probably damaging 1.00
R5687:Speg UTSW 1 75,419,129 (GRCm38) splice site probably null
R5985:Speg UTSW 1 75,406,684 (GRCm38) missense possibly damaging 0.94
R6004:Speg UTSW 1 75,415,603 (GRCm38) nonsense probably null
R6038:Speg UTSW 1 75,418,459 (GRCm38) critical splice donor site probably null
R6038:Speg UTSW 1 75,418,459 (GRCm38) critical splice donor site probably null
R6143:Speg UTSW 1 75,414,387 (GRCm38) missense probably damaging 1.00
R6265:Speg UTSW 1 75,406,679 (GRCm38) nonsense probably null
R6347:Speg UTSW 1 75,426,875 (GRCm38) missense probably benign 0.00
R6453:Speg UTSW 1 75,417,972 (GRCm38) missense probably benign 0.06
R6505:Speg UTSW 1 75,429,523 (GRCm38) missense possibly damaging 0.93
R6505:Speg UTSW 1 75,406,684 (GRCm38) missense possibly damaging 0.94
R6566:Speg UTSW 1 75,388,463 (GRCm38) missense probably damaging 1.00
R6747:Speg UTSW 1 75,410,395 (GRCm38) critical splice donor site probably null
R6819:Speg UTSW 1 75,391,812 (GRCm38) missense possibly damaging 0.56
R6821:Speg UTSW 1 75,417,903 (GRCm38) missense possibly damaging 0.83
R6919:Speg UTSW 1 75,387,908 (GRCm38) nonsense probably null
R6981:Speg UTSW 1 75,430,913 (GRCm38) missense probably damaging 1.00
R7002:Speg UTSW 1 75,423,268 (GRCm38) missense probably damaging 0.98
R7082:Speg UTSW 1 75,411,447 (GRCm38) missense probably damaging 0.96
R7140:Speg UTSW 1 75,406,770 (GRCm38) critical splice donor site probably null
R7175:Speg UTSW 1 75,422,490 (GRCm38) missense probably benign 0.01
R7178:Speg UTSW 1 75,422,383 (GRCm38) missense possibly damaging 0.46
R7345:Speg UTSW 1 75,384,835 (GRCm38) missense probably damaging 0.97
R7420:Speg UTSW 1 75,430,905 (GRCm38) missense probably damaging 1.00
R7537:Speg UTSW 1 75,401,464 (GRCm38) missense probably damaging 1.00
R7562:Speg UTSW 1 75,431,279 (GRCm38) missense probably damaging 0.97
R7615:Speg UTSW 1 75,429,242 (GRCm38) missense probably damaging 1.00
R7679:Speg UTSW 1 75,406,315 (GRCm38) missense probably damaging 1.00
R7692:Speg UTSW 1 75,401,190 (GRCm38) missense probably benign 0.04
R7696:Speg UTSW 1 75,429,161 (GRCm38) missense probably damaging 1.00
R7719:Speg UTSW 1 75,375,825 (GRCm38) missense probably damaging 1.00
R7794:Speg UTSW 1 75,388,870 (GRCm38) missense probably benign 0.00
R7824:Speg UTSW 1 75,384,017 (GRCm38) splice site probably null
R7834:Speg UTSW 1 75,384,927 (GRCm38) missense probably damaging 1.00
R7892:Speg UTSW 1 75,427,166 (GRCm38) missense probably damaging 1.00
R8015:Speg UTSW 1 75,415,421 (GRCm38) splice site probably benign
R8068:Speg UTSW 1 75,422,250 (GRCm38) missense probably damaging 1.00
R8085:Speg UTSW 1 75,415,353 (GRCm38) missense probably damaging 1.00
R8130:Speg UTSW 1 75,415,596 (GRCm38) missense probably damaging 1.00
R8132:Speg UTSW 1 75,422,995 (GRCm38) missense probably damaging 1.00
R8239:Speg UTSW 1 75,419,033 (GRCm38) missense probably damaging 1.00
R8287:Speg UTSW 1 75,422,236 (GRCm38) missense probably benign 0.26
R8299:Speg UTSW 1 75,387,836 (GRCm38) missense possibly damaging 0.95
R8441:Speg UTSW 1 75,411,332 (GRCm38) missense possibly damaging 0.60
R8468:Speg UTSW 1 75,431,309 (GRCm38) missense probably damaging 1.00
R8555:Speg UTSW 1 75,402,264 (GRCm38) splice site probably null
R8781:Speg UTSW 1 75,407,021 (GRCm38) missense probably damaging 1.00
R8784:Speg UTSW 1 75,405,149 (GRCm38) critical splice donor site probably benign
R8848:Speg UTSW 1 75,427,438 (GRCm38) critical splice donor site probably null
R8881:Speg UTSW 1 75,401,151 (GRCm38) missense possibly damaging 0.67
R8898:Speg UTSW 1 75,388,873 (GRCm38) missense probably damaging 1.00
R8935:Speg UTSW 1 75,422,606 (GRCm38) missense probably benign 0.30
R9019:Speg UTSW 1 75,429,238 (GRCm38) missense probably damaging 1.00
R9027:Speg UTSW 1 75,388,432 (GRCm38) missense possibly damaging 0.67
R9066:Speg UTSW 1 75,385,010 (GRCm38) missense probably damaging 0.99
R9092:Speg UTSW 1 75,422,734 (GRCm38) missense probably benign 0.01
R9117:Speg UTSW 1 75,387,800 (GRCm38) missense probably damaging 1.00
R9202:Speg UTSW 1 75,390,993 (GRCm38) missense probably damaging 1.00
R9246:Speg UTSW 1 75,384,854 (GRCm38) missense probably damaging 1.00
R9248:Speg UTSW 1 75,421,776 (GRCm38) missense probably damaging 1.00
R9451:Speg UTSW 1 75,417,733 (GRCm38) missense probably damaging 1.00
R9452:Speg UTSW 1 75,422,508 (GRCm38) missense probably benign
R9475:Speg UTSW 1 75,388,091 (GRCm38) missense probably damaging 1.00
R9476:Speg UTSW 1 75,401,124 (GRCm38) missense probably damaging 0.99
R9510:Speg UTSW 1 75,401,124 (GRCm38) missense probably damaging 0.99
R9519:Speg UTSW 1 75,415,736 (GRCm38) missense probably damaging 1.00
R9528:Speg UTSW 1 75,387,803 (GRCm38) missense possibly damaging 0.78
R9542:Speg UTSW 1 75,422,782 (GRCm38) missense probably benign 0.08
R9553:Speg UTSW 1 75,418,001 (GRCm38) missense probably benign 0.00
R9767:Speg UTSW 1 75,427,181 (GRCm38) missense possibly damaging 0.78
R9768:Speg UTSW 1 75,418,973 (GRCm38) nonsense probably null
R9800:Speg UTSW 1 75,422,714 (GRCm38) missense probably benign 0.03
X0025:Speg UTSW 1 75,422,457 (GRCm38) missense probably damaging 1.00
X0026:Speg UTSW 1 75,423,475 (GRCm38) missense possibly damaging 0.88
Z1176:Speg UTSW 1 75,406,594 (GRCm38) missense probably damaging 1.00
Z1177:Speg UTSW 1 75,427,683 (GRCm38) missense probably damaging 1.00
Z1177:Speg UTSW 1 75,430,455 (GRCm38) missense probably damaging 0.99
Z1177:Speg UTSW 1 75,428,381 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTCACATCCAGAGACTCTC -3'
(R):5'- CTCGAACACAGCCTCTGATTC -3'

Sequencing Primer
(F):5'- TGTCCCAGAAAAGGTCCCTGAG -3'
(R):5'- AACACAGCCTCTGATTCAAGGTTTTC -3'
Posted On 2018-06-06