Incidental Mutation 'R8368:Samd7'
ID 646243
Institutional Source Beutler Lab
Gene Symbol Samd7
Ensembl Gene ENSMUSG00000051860
Gene Name sterile alpha motif domain containing 7
Synonyms 4930597A01Rik
MMRRC Submission 067738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R8368 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 30800481-30821323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30819574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 441 (D441V)
Ref Sequence ENSEMBL: ENSMUSP00000103897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108262] [ENSMUST00000172593] [ENSMUST00000174395]
AlphaFold Q8C8Y5
Predicted Effect probably damaging
Transcript: ENSMUST00000108262
AA Change: D441V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103897
Gene: ENSMUSG00000051860
AA Change: D441V

DomainStartEndE-ValueType
SAM 321 388 2.12e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172593
Predicted Effect probably benign
Transcript: ENSMUST00000174395
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout reduces the sensitivity of the retinal rods to low-to-moderate flash luminescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A T 15: 76,619,455 (GRCm39) S710T probably damaging Het
Asb10 A C 5: 24,744,615 (GRCm39) I193S probably benign Het
C2cd6 A G 1: 59,133,820 (GRCm39) L67P probably benign Het
Ccdc14 T C 16: 34,543,742 (GRCm39) L748P probably benign Het
Cers4 T G 8: 4,565,698 (GRCm39) V48G probably benign Het
Chrna10 T C 7: 101,764,223 (GRCm39) T54A probably benign Het
Dip2b T C 15: 100,052,124 (GRCm39) S242P probably benign Het
Fam151a A G 4: 106,604,190 (GRCm39) T325A probably benign Het
Gm21190 A T 5: 15,729,848 (GRCm39) S257T possibly damaging Het
Gm49368 T C 7: 127,713,921 (GRCm39) S909P probably benign Het
Gm5150 C A 3: 16,044,902 (GRCm39) V108F probably damaging Het
Gsdmc2 G A 15: 63,696,902 (GRCm39) T423I probably damaging Het
Hsf2 T A 10: 57,388,241 (GRCm39) C501S probably damaging Het
Igf1r A G 7: 67,836,796 (GRCm39) N551D probably benign Het
Kctd3 G A 1: 188,704,404 (GRCm39) T789I probably benign Het
Lad1 A G 1: 135,759,264 (GRCm39) E474G probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Magi3 A T 3: 104,002,379 (GRCm39) probably null Het
Nrdc A G 4: 108,870,895 (GRCm39) D174G probably benign Het
Nrxn3 T A 12: 90,298,815 (GRCm39) Y445* probably null Het
Otol1 A G 3: 69,935,199 (GRCm39) Y397C probably damaging Het
Pkd2 G T 5: 104,607,653 (GRCm39) E51* probably null Het
Rad21l A G 2: 151,495,390 (GRCm39) V431A probably benign Het
Rad50 A G 11: 53,574,155 (GRCm39) L694S possibly damaging Het
Rasal1 A G 5: 120,809,615 (GRCm39) S507G probably damaging Het
Ros1 T A 10: 51,940,833 (GRCm39) D2162V probably damaging Het
Senp1 T C 15: 97,943,255 (GRCm39) S623G probably damaging Het
Shld1 T C 2: 132,592,433 (GRCm39) I160T probably benign Het
Slc23a3 G T 1: 75,106,281 (GRCm39) P313T probably damaging Het
Slc66a2 T C 18: 80,334,873 (GRCm39) S231P probably benign Het
Stab1 T C 14: 30,870,368 (GRCm39) D1320G possibly damaging Het
Tdpoz7 A G 3: 93,979,893 (GRCm39) F20S probably damaging Het
Tinf2 T C 14: 55,917,030 (GRCm39) T372A probably damaging Het
Trim45 A G 3: 100,830,672 (GRCm39) T149A possibly damaging Het
Trim63 TGAGGAGGAGGAGGAGGAGGAG TGAGGAGGAGGAGGAGGAG 4: 134,055,017 (GRCm39) probably benign Het
Unc13c C T 9: 73,838,070 (GRCm39) S927N probably benign Het
Uqcrfs1 C A 13: 30,724,799 (GRCm39) G247V probably damaging Het
Zfp143 A T 7: 109,682,455 (GRCm39) N342I probably damaging Het
Other mutations in Samd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Samd7 APN 3 30,819,399 (GRCm39) missense probably damaging 1.00
IGL01813:Samd7 APN 3 30,808,435 (GRCm39) missense probably benign 0.00
IGL02884:Samd7 APN 3 30,810,322 (GRCm39) missense probably damaging 1.00
IGL03018:Samd7 APN 3 30,816,294 (GRCm39) missense probably damaging 1.00
IGL03263:Samd7 APN 3 30,816,302 (GRCm39) missense probably damaging 1.00
R0244:Samd7 UTSW 3 30,805,222 (GRCm39) missense probably benign 0.41
R0638:Samd7 UTSW 3 30,810,670 (GRCm39) missense probably benign 0.01
R1490:Samd7 UTSW 3 30,812,502 (GRCm39) missense probably benign 0.01
R2099:Samd7 UTSW 3 30,810,709 (GRCm39) missense probably benign 0.00
R3725:Samd7 UTSW 3 30,805,283 (GRCm39) missense possibly damaging 0.46
R5557:Samd7 UTSW 3 30,810,769 (GRCm39) missense probably benign 0.21
R5899:Samd7 UTSW 3 30,810,883 (GRCm39) missense probably benign 0.00
R6088:Samd7 UTSW 3 30,810,632 (GRCm39) missense probably benign 0.00
R6985:Samd7 UTSW 3 30,805,272 (GRCm39) missense probably benign 0.02
R7066:Samd7 UTSW 3 30,805,272 (GRCm39) missense probably benign 0.02
R7067:Samd7 UTSW 3 30,805,272 (GRCm39) missense probably benign 0.02
R7073:Samd7 UTSW 3 30,810,631 (GRCm39) missense probably benign 0.21
R8007:Samd7 UTSW 3 30,812,531 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGGTATCTCAGCATGTGGG -3'
(R):5'- AACGTAGTCTGTAAATTCCCCTCC -3'

Sequencing Primer
(F):5'- CTCAGCATGTGGGAAATATGTTC -3'
(R):5'- GCATTTTCTCCTCGGGGCAG -3'
Posted On 2020-09-02