Incidental Mutation 'R2520:Tmeff1'
ID254318
Institutional Source Beutler Lab
Gene Symbol Tmeff1
Ensembl Gene ENSMUSG00000028347
Gene Nametransmembrane protein with EGF-like and two follistatin-like domains 1
Synonymstomoregulin-like, M7365
MMRRC Submission 040424-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.429) question?
Stock #R2520 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location48585174-48663131 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 48604679 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 91 (C91S)
Ref Sequence ENSEMBL: ENSMUSP00000115841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030032] [ENSMUST00000123476] [ENSMUST00000130834]
Predicted Effect probably damaging
Transcript: ENSMUST00000030032
AA Change: C91S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030032
Gene: ENSMUSG00000028347
AA Change: C91S

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
KAZAL 90 135 6.19e-19 SMART
low complexity region 140 155 N/A INTRINSIC
KAZAL 181 227 4.92e-13 SMART
EGF 266 303 1.33e-1 SMART
transmembrane domain 322 344 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107703
AA Change: C91S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103331
Gene: ENSMUSG00000028347
AA Change: C91S

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
KAZAL 90 135 6.19e-19 SMART
low complexity region 140 156 N/A INTRINSIC
KAZAL 182 228 4.92e-13 SMART
EGF 267 304 1.33e-1 SMART
transmembrane domain 323 345 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123476
AA Change: C91S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115841
Gene: ENSMUSG00000028347
AA Change: C91S

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
KAZAL 90 135 6.19e-19 SMART
low complexity region 140 155 N/A INTRINSIC
KAZAL 181 227 4.92e-13 SMART
EGF 266 303 1.33e-1 SMART
transmembrane domain 322 344 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130834
AA Change: C64S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121740
Gene: ENSMUSG00000028347
AA Change: C64S

DomainStartEndE-ValueType
low complexity region 15 25 N/A INTRINSIC
KAZAL 63 108 6.19e-19 SMART
low complexity region 113 129 N/A INTRINSIC
KAZAL 155 201 4.92e-13 SMART
EGF 240 277 1.33e-1 SMART
transmembrane domain 296 318 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A T 5: 3,575,773 N70I probably damaging Het
4930503B20Rik G A 3: 146,650,506 R216W probably damaging Het
Abcb9 C T 5: 124,080,028 probably null Het
Arhgdia A T 11: 120,580,026 V72E probably damaging Het
Arsb A T 13: 93,940,699 K525* probably null Het
Bckdha A C 7: 25,641,699 I79S probably benign Het
Carm1 G A 9: 21,583,597 probably null Het
Cers5 G A 15: 99,736,381 T362I probably damaging Het
Clec4b2 T A 6: 123,200,983 F86I probably damaging Het
Crispld1 G A 1: 17,750,776 D347N probably damaging Het
Csf3r A T 4: 126,035,352 T352S probably benign Het
Daam2 G A 17: 49,480,757 Q443* probably null Het
Dcbld1 A G 10: 52,319,545 D283G probably damaging Het
Dpp9 T C 17: 56,206,868 E82G probably damaging Het
Dync1li1 A G 9: 114,689,006 D42G probably null Het
Eml6 T C 11: 29,791,993 H1130R probably damaging Het
Enox1 A T 14: 77,582,399 Y198F probably damaging Het
Epop A G 11: 97,628,728 L185P probably benign Het
Frem1 A T 4: 82,950,290 C1485S probably damaging Het
Gbf1 T A 19: 46,265,367 S571T probably benign Het
Gm5965 A T 16: 88,778,526 I196F probably null Het
Gm8237 T A 14: 5,863,642 I8L possibly damaging Het
Gria2 A C 3: 80,706,962 N590K probably damaging Het
Hectd2 T A 19: 36,612,233 probably null Het
Hmcn1 T A 1: 150,743,647 T1239S possibly damaging Het
Hps3 A T 3: 20,029,030 D167E probably damaging Het
Htr1a A G 13: 105,445,373 S374G probably benign Het
Il16 C T 7: 83,651,994 G307S probably benign Het
Ipmk T C 10: 71,381,217 F198S probably damaging Het
Lyz2 T A 10: 117,278,653 I124F probably damaging Het
Maea T C 5: 33,358,510 V47A probably damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Mrgpra1 A T 7: 47,335,272 C220S possibly damaging Het
Myo5c A T 9: 75,297,649 K1595* probably null Het
Naga G T 15: 82,330,094 D405E probably benign Het
Nanog T A 6: 122,713,459 N249K probably benign Het
Nhlh1 G T 1: 172,054,003 R99S probably damaging Het
Ntrk2 T A 13: 59,054,276 probably null Het
Nudt2 A G 4: 41,480,354 E79G probably benign Het
Olfr1313 A T 2: 112,071,668 M305K probably benign Het
Olfr1368 A T 13: 21,142,576 C160* probably null Het
Olfr666 T A 7: 104,892,873 I252F probably benign Het
Pitpnm2 T C 5: 124,129,401 D592G probably damaging Het
Prps1l3 T C 12: 57,238,583 V53A probably damaging Het
Psmd2 T G 16: 20,663,076 V853G probably damaging Het
Pycard A G 7: 127,993,505 I50T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Rnf168 T A 16: 32,278,403 S99T probably benign Het
Rph3al A G 11: 75,906,547 S108P possibly damaging Het
Sdk1 G A 5: 142,085,771 A979T probably benign Het
Sec16a G A 2: 26,441,356 Q216* probably null Het
Slc35f3 T A 8: 126,394,573 V391E possibly damaging Het
Slf1 T A 13: 77,051,265 I666F probably damaging Het
Slfn14 A G 11: 83,276,187 V834A probably damaging Het
Tab2 G A 10: 7,907,481 P679L probably damaging Het
Tbc1d10b A G 7: 127,200,283 probably null Het
Tmem108 G T 9: 103,489,282 N503K possibly damaging Het
Trbv29 A G 6: 41,271,607 T24A probably damaging Het
Trim34b A G 7: 104,331,239 E178G probably damaging Het
Trmt1l T A 1: 151,453,945 H546Q probably benign Het
Ttc39d A G 17: 80,216,370 I153V probably benign Het
Ttll13 T C 7: 80,250,216 V101A probably damaging Het
Ubash3b A T 9: 41,014,947 H501Q probably damaging Het
Upf3a T A 8: 13,796,443 probably null Het
Usp48 A G 4: 137,625,251 S94G probably benign Het
Wdr86 T C 5: 24,712,575 *381W probably null Het
Wdr90 G A 17: 25,855,352 P680S probably damaging Het
Zbtb22 G A 17: 33,916,982 V34M probably damaging Het
Zbtb8a A G 4: 129,359,896 probably null Het
Zfhx4 C T 3: 5,403,358 P2859S probably benign Het
Zfp512b A G 2: 181,589,502 V295A probably damaging Het
Zfp608 A T 18: 54,988,506 V3E possibly damaging Het
Zfp748 G T 13: 67,546,662 D32E possibly damaging Het
Other mutations in Tmeff1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Tmeff1 APN 4 48610435 missense probably damaging 1.00
R0466:Tmeff1 UTSW 4 48636853 missense possibly damaging 0.94
R1900:Tmeff1 UTSW 4 48658938 splice site probably benign
R1926:Tmeff1 UTSW 4 48658788 missense probably damaging 1.00
R1945:Tmeff1 UTSW 4 48614960 missense possibly damaging 0.58
R2504:Tmeff1 UTSW 4 48662059 missense possibly damaging 0.91
R2851:Tmeff1 UTSW 4 48604692 critical splice donor site probably null
R2852:Tmeff1 UTSW 4 48604692 critical splice donor site probably null
R2897:Tmeff1 UTSW 4 48658831 nonsense probably null
R2910:Tmeff1 UTSW 4 48614961 missense possibly damaging 0.77
R4700:Tmeff1 UTSW 4 48636869 missense possibly damaging 0.86
R5504:Tmeff1 UTSW 4 48650396 missense probably damaging 1.00
R7383:Tmeff1 UTSW 4 48636841 missense probably damaging 1.00
R7389:Tmeff1 UTSW 4 48617097 intron probably null
Predicted Primers PCR Primer
(F):5'- TGAGATGCCTAGTACATTTGTGC -3'
(R):5'- TGCACACCTATCACGGTCAG -3'

Sequencing Primer
(F):5'- TTTGTGCTTTTATTAATCTGTGTACG -3'
(R):5'- ACACCTATCACGGTCAGTCTGTC -3'
Posted On2014-12-04