Incidental Mutation 'R0945:Nell1'
ID 82058
Institutional Source Beutler Lab
Gene Symbol Nell1
Ensembl Gene ENSMUSG00000055409
Gene Name NEL-like 1
Synonyms l7R6, B230343H07Rik
MMRRC Submission 039084-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0945 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 49625098-50513037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49869333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 203 (I203V)
Ref Sequence ENSEMBL: ENSMUSP00000114706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081872] [ENSMUST00000107603] [ENSMUST00000151721]
AlphaFold Q2VWQ2
Predicted Effect probably benign
Transcript: ENSMUST00000081872
AA Change: I203V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: I203V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSPN 29 213 8.5e-72 SMART
LamG 81 208 1.77e-14 SMART
coiled coil region 240 266 N/A INTRINSIC
VWC 273 331 1.45e-6 SMART
VWC 335 389 1.34e0 SMART
EGF 394 433 1.06e0 SMART
EGF_CA 434 475 7.93e-9 SMART
EGF 479 516 1.1e-2 SMART
EGF 518 547 8.32e-3 SMART
EGF_CA 549 595 1.08e-10 SMART
EGF_like 596 635 1.84e-4 SMART
VWC 634 686 1.42e0 SMART
VWC 694 749 1.83e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107603
AA Change: I203V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: I203V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSPN 29 213 8.5e-72 SMART
LamG 81 208 1.77e-14 SMART
coiled coil region 240 266 N/A INTRINSIC
VWC 273 331 1.45e-6 SMART
VWC 335 389 1.34e0 SMART
EGF 394 433 1.06e0 SMART
EGF_CA 434 475 7.93e-9 SMART
EGF 479 516 1.1e-2 SMART
EGF 518 547 8.32e-3 SMART
EGF_like 549 588 1.84e-4 SMART
VWC 587 639 1.42e0 SMART
VWC 647 702 1.83e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145096
Predicted Effect probably benign
Transcript: ENSMUST00000151721
AA Change: I203V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: I203V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSPN 29 213 8.5e-72 SMART
LamG 81 208 1.77e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154410
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.1%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mice display perinatal lethality, respiratory failure, impaired development of the intervertebral disks, vertebrae and calvarial bones, increased skull length, and abnormal curvature of the spine. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Gene trapped(2) Chemically induced(9)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,110,481 (GRCm39) M883V probably benign Het
Allc A G 12: 28,609,962 (GRCm39) S212P probably benign Het
Anxa10 A G 8: 62,513,279 (GRCm39) probably benign Het
Apoa2 A G 1: 171,053,268 (GRCm39) probably null Het
Arfgef2 T C 2: 166,668,889 (GRCm39) probably benign Het
Arhgap30 G T 1: 171,230,854 (GRCm39) V204L probably damaging Het
Cd109 T A 9: 78,596,223 (GRCm39) V852E possibly damaging Het
Ceacam5 T A 7: 17,481,269 (GRCm39) Y339N probably damaging Het
Chaf1a A G 17: 56,374,441 (GRCm39) D876G probably damaging Het
Chd9 A G 8: 91,659,630 (GRCm39) K197E possibly damaging Het
Cnr2 A T 4: 135,644,632 (GRCm39) M237L probably benign Het
Dnm2 C A 9: 21,416,956 (GRCm39) Q830K probably damaging Het
Dst T C 1: 34,310,500 (GRCm39) L1615P probably damaging Het
Eid1 A G 2: 125,515,497 (GRCm39) D129G probably damaging Het
Exoc5 A G 14: 49,276,799 (GRCm39) probably benign Het
Greb1 T C 12: 16,723,803 (GRCm39) Y1854C probably benign Het
Il15ra T A 2: 11,723,138 (GRCm39) V54E probably damaging Het
Il4i1 G A 7: 44,489,128 (GRCm39) V306M probably damaging Het
Lrsam1 T C 2: 32,837,921 (GRCm39) D211G probably benign Het
Miga1 A T 3: 152,023,300 (GRCm39) F250L possibly damaging Het
Myrfl C T 10: 116,639,299 (GRCm39) probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or14j9 G A 17: 37,874,278 (GRCm39) T308I probably benign Het
Or4a15 T C 2: 89,193,599 (GRCm39) Y58C probably damaging Het
Or52u1 T A 7: 104,237,879 (GRCm39) N289K probably damaging Het
Pdxdc1 A G 16: 13,675,296 (GRCm39) L345P probably damaging Het
Pex3 C A 10: 13,418,420 (GRCm39) A79S probably benign Het
Pla2r1 A C 2: 60,288,754 (GRCm39) L626R possibly damaging Het
Plcb3 A G 19: 6,932,246 (GRCm39) S1107P probably damaging Het
Ppcdc C T 9: 57,327,441 (GRCm39) probably null Het
Rbak A T 5: 143,159,334 (GRCm39) F573Y probably damaging Het
Rfc1 A G 5: 65,436,052 (GRCm39) probably null Het
Rpl13 C T 8: 123,831,913 (GRCm39) A203V possibly damaging Het
Scn8a A G 15: 100,913,668 (GRCm39) H1020R possibly damaging Het
Slf1 A G 13: 77,251,590 (GRCm39) probably benign Het
Synj1 A G 16: 90,757,333 (GRCm39) L905S possibly damaging Het
Tmem59 T A 4: 107,044,922 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uri1 A T 7: 37,669,103 (GRCm39) D127E probably damaging Het
Usp31 T C 7: 121,269,476 (GRCm39) E489G probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp941 C T 7: 140,391,577 (GRCm39) R594H probably damaging Het
Zfy1 T C Y: 725,983 (GRCm39) D594G probably damaging Het
Other mutations in Nell1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Nell1 APN 7 49,770,421 (GRCm39) missense probably damaging 0.96
IGL01434:Nell1 APN 7 50,350,956 (GRCm39) missense probably benign 0.01
IGL01796:Nell1 APN 7 49,825,964 (GRCm39) splice site probably benign
IGL02048:Nell1 APN 7 49,869,355 (GRCm39) missense probably damaging 0.96
IGL02239:Nell1 APN 7 49,899,398 (GRCm39) missense probably benign 0.08
IGL02860:Nell1 APN 7 50,498,233 (GRCm39) missense probably damaging 0.99
IGL02958:Nell1 APN 7 49,870,085 (GRCm39) critical splice donor site probably null
IGL03143:Nell1 APN 7 49,929,281 (GRCm39) nonsense probably null
IGL03334:Nell1 APN 7 49,712,359 (GRCm39) splice site probably null
D6062:Nell1 UTSW 7 49,907,939 (GRCm39) missense probably benign 0.21
P0018:Nell1 UTSW 7 49,770,439 (GRCm39) missense probably damaging 1.00
R0004:Nell1 UTSW 7 50,210,507 (GRCm39) splice site probably benign
R0029:Nell1 UTSW 7 49,770,463 (GRCm39) splice site probably benign
R0029:Nell1 UTSW 7 49,770,463 (GRCm39) splice site probably benign
R0468:Nell1 UTSW 7 49,878,594 (GRCm39) missense probably damaging 0.97
R0483:Nell1 UTSW 7 49,879,928 (GRCm39) missense probably benign 0.07
R0732:Nell1 UTSW 7 50,506,135 (GRCm39) missense probably damaging 1.00
R1022:Nell1 UTSW 7 49,770,411 (GRCm39) missense probably damaging 1.00
R1024:Nell1 UTSW 7 49,770,411 (GRCm39) missense probably damaging 1.00
R1075:Nell1 UTSW 7 50,503,588 (GRCm39) missense probably damaging 0.98
R1291:Nell1 UTSW 7 49,879,998 (GRCm39) missense probably benign 0.00
R1404:Nell1 UTSW 7 50,503,621 (GRCm39) missense possibly damaging 0.91
R1404:Nell1 UTSW 7 50,503,621 (GRCm39) missense possibly damaging 0.91
R1634:Nell1 UTSW 7 50,498,306 (GRCm39) missense possibly damaging 0.82
R1928:Nell1 UTSW 7 50,350,943 (GRCm39) missense possibly damaging 0.51
R2060:Nell1 UTSW 7 50,210,578 (GRCm39) missense possibly damaging 0.58
R2261:Nell1 UTSW 7 50,210,569 (GRCm39) missense possibly damaging 0.95
R2262:Nell1 UTSW 7 50,210,569 (GRCm39) missense possibly damaging 0.95
R2263:Nell1 UTSW 7 50,210,569 (GRCm39) missense possibly damaging 0.95
R2448:Nell1 UTSW 7 50,506,135 (GRCm39) missense probably damaging 1.00
R2869:Nell1 UTSW 7 49,899,405 (GRCm39) intron probably benign
R2870:Nell1 UTSW 7 49,899,405 (GRCm39) intron probably benign
R2871:Nell1 UTSW 7 49,899,405 (GRCm39) intron probably benign
R3498:Nell1 UTSW 7 49,907,927 (GRCm39) missense possibly damaging 0.55
R4044:Nell1 UTSW 7 49,869,367 (GRCm39) missense probably damaging 1.00
R4623:Nell1 UTSW 7 49,770,310 (GRCm39) missense possibly damaging 0.84
R4732:Nell1 UTSW 7 50,505,965 (GRCm39) missense probably damaging 1.00
R4733:Nell1 UTSW 7 50,505,965 (GRCm39) missense probably damaging 1.00
R4941:Nell1 UTSW 7 49,712,386 (GRCm39) missense probably benign 0.10
R4942:Nell1 UTSW 7 49,770,397 (GRCm39) missense possibly damaging 0.84
R5233:Nell1 UTSW 7 49,826,062 (GRCm39) missense probably damaging 0.99
R5590:Nell1 UTSW 7 49,929,359 (GRCm39) missense probably damaging 1.00
R5673:Nell1 UTSW 7 49,878,594 (GRCm39) missense probably damaging 0.99
R5741:Nell1 UTSW 7 50,210,638 (GRCm39) splice site probably null
R6345:Nell1 UTSW 7 49,625,171 (GRCm39) missense possibly damaging 0.91
R6916:Nell1 UTSW 7 50,350,927 (GRCm39) missense probably benign 0.00
R7051:Nell1 UTSW 7 50,098,592 (GRCm39) missense unknown
R7302:Nell1 UTSW 7 50,506,017 (GRCm39) missense probably benign
R7339:Nell1 UTSW 7 49,929,297 (GRCm39) missense probably benign 0.01
R7831:Nell1 UTSW 7 49,632,548 (GRCm39) missense possibly damaging 0.85
R7913:Nell1 UTSW 7 49,929,270 (GRCm39) missense possibly damaging 0.93
R8094:Nell1 UTSW 7 49,770,335 (GRCm39) missense probably benign 0.02
R8191:Nell1 UTSW 7 50,098,622 (GRCm39) missense unknown
R8207:Nell1 UTSW 7 49,869,760 (GRCm39) splice site probably null
R8292:Nell1 UTSW 7 49,907,995 (GRCm39) missense probably damaging 1.00
R8340:Nell1 UTSW 7 49,870,021 (GRCm39) missense probably damaging 0.98
R8673:Nell1 UTSW 7 49,869,343 (GRCm39) missense probably damaging 1.00
R8821:Nell1 UTSW 7 50,476,097 (GRCm39) missense probably damaging 0.98
R8987:Nell1 UTSW 7 50,498,399 (GRCm39) missense probably damaging 1.00
R8988:Nell1 UTSW 7 50,210,543 (GRCm39) missense unknown
R9095:Nell1 UTSW 7 50,506,150 (GRCm39) missense possibly damaging 0.92
R9300:Nell1 UTSW 7 49,712,368 (GRCm39) missense probably benign
R9370:Nell1 UTSW 7 49,770,292 (GRCm39) missense probably damaging 1.00
R9422:Nell1 UTSW 7 49,712,387 (GRCm39) nonsense probably null
R9428:Nell1 UTSW 7 50,503,683 (GRCm39) missense probably damaging 1.00
R9445:Nell1 UTSW 7 49,632,474 (GRCm39) missense possibly damaging 0.78
Z1176:Nell1 UTSW 7 50,210,630 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGTGCCCACACTCATGCAGAC -3'
(R):5'- TCTTGTTCCAACCTTGAAAGACCCAG -3'

Sequencing Primer
(F):5'- CTCGATGGTATCTACCAGATGG -3'
(R):5'- TTGAAAGACCCAGTAATATCGACG -3'
Posted On 2013-11-08