Incidental Mutation 'R6345:Nell1'
ID 514106
Institutional Source Beutler Lab
Gene Symbol Nell1
Ensembl Gene ENSMUSG00000055409
Gene Name NEL-like 1
Synonyms l7R6, B230343H07Rik
MMRRC Submission 044499-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6345 (G1)
Quality Score 191.009
Status Validated
Chromosome 7
Chromosomal Location 49625098-50513037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49625171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 12 (C12Y)
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: C12Y

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409
AA Change: C12Y

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: C12Y

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409
AA Change: C12Y

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 possibly damaging
Transcript: ENSMUST00000151721
AA Change: C12Y

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: C12Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSPN 29 213 8.5e-72 SMART
LamG 81 208 1.77e-14 SMART
Meta Mutation Damage Score 0.7012 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,913 (GRCm39) I121T probably benign Het
4921524L21Rik T A 18: 6,626,399 (GRCm39) M137K possibly damaging Het
Angpt4 C A 2: 151,771,354 (GRCm39) N223K probably benign Het
Ankrd6 T C 4: 32,810,266 (GRCm39) R437G probably damaging Het
Atp9a C T 2: 168,518,093 (GRCm39) S264N probably damaging Het
AY358078 A C 14: 52,063,749 (GRCm39) Y465S probably damaging Het
Bin3 G A 14: 70,374,676 (GRCm39) R235Q probably benign Het
Bsn G A 9: 107,984,554 (GRCm39) P3167S unknown Het
Camk2g G A 14: 20,787,443 (GRCm39) R274C probably damaging Het
Ccdc61 A T 7: 18,643,914 (GRCm39) probably null Het
Ccnjl A T 11: 43,476,165 (GRCm39) T263S probably benign Het
Col17a1 G T 19: 47,641,818 (GRCm39) P944T possibly damaging Het
Cyp2c39 A T 19: 39,501,615 (GRCm39) probably null Het
Cyp2c39 G T 19: 39,501,616 (GRCm39) probably null Het
Cyp4a32 T C 4: 115,459,560 (GRCm39) V98A possibly damaging Het
Dnah9 A G 11: 65,928,519 (GRCm39) V2050A probably damaging Het
F5 A G 1: 164,019,520 (GRCm39) N665S probably benign Het
Fbxl6 A T 15: 76,420,054 (GRCm39) C520S probably damaging Het
Fscn2 C A 11: 120,252,853 (GRCm39) H107N probably damaging Het
Gfm2 C T 13: 97,299,461 (GRCm39) T367M probably damaging Het
Gle1 C G 2: 29,826,127 (GRCm39) P69A probably benign Het
Gpr156 A T 16: 37,807,881 (GRCm39) D176V probably damaging Het
Grip2 A G 6: 91,742,369 (GRCm39) S895P possibly damaging Het
Hfm1 C T 5: 106,989,504 (GRCm39) G1404D probably benign Het
Ifit1bl1 G A 19: 34,571,570 (GRCm39) R296* probably null Het
Ighv1-39 C T 12: 114,878,479 (GRCm39) V31M possibly damaging Het
Itgav A G 2: 83,632,380 (GRCm39) E956G probably damaging Het
Katnip C A 7: 125,352,159 (GRCm39) D26E probably damaging Het
Lsm8 A G 6: 18,853,644 (GRCm39) D86G probably damaging Het
Mdh1b T G 1: 63,754,398 (GRCm39) H390P possibly damaging Het
Mtrf1l A T 10: 5,767,468 (GRCm39) I216N possibly damaging Het
Muc16 G A 9: 18,566,222 (GRCm39) T2099I unknown Het
Myh7 T C 14: 55,221,149 (GRCm39) R925G probably damaging Het
Myo1h T A 5: 114,489,769 (GRCm39) I658N probably damaging Het
Myo5a A T 9: 75,097,195 (GRCm39) D81V possibly damaging Het
Obscn T C 11: 58,944,522 (GRCm39) Y4724C probably damaging Het
Or8k53 A G 2: 86,177,892 (GRCm39) Y73H probably damaging Het
Pah G A 10: 87,412,049 (GRCm39) D315N probably damaging Het
Per2 A G 1: 91,376,444 (GRCm39) V143A probably damaging Het
Plcxd1 T C 5: 110,248,165 (GRCm39) V38A probably benign Het
Pld1 A G 3: 28,184,896 (GRCm39) probably benign Het
Plekhh2 A G 17: 84,883,215 (GRCm39) N761S probably benign Het
Polh T C 17: 46,493,664 (GRCm39) I318V probably benign Het
Prex1 T C 2: 166,414,880 (GRCm39) Q1323R probably null Het
Rb1cc1 T A 1: 6,333,481 (GRCm39) S1440T probably benign Het
Rbm19 G T 5: 120,265,105 (GRCm39) W382L possibly damaging Het
Rchy1 T C 5: 92,105,801 (GRCm39) D49G probably benign Het
Ric1 A G 19: 29,581,485 (GRCm39) D1402G probably benign Het
S1pr3 G T 13: 51,573,067 (GRCm39) A83S probably damaging Het
S1pr3 C A 13: 51,573,068 (GRCm39) A83D probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpinb9c T C 13: 33,333,978 (GRCm39) R355G probably damaging Het
Slx4 G C 16: 3,808,714 (GRCm39) Q409E probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Specc1l G T 10: 75,084,322 (GRCm39) D682Y probably damaging Het
Spen C T 4: 141,198,944 (GRCm39) V3228I possibly damaging Het
Strip1 T C 3: 107,535,516 (GRCm39) E69G probably damaging Het
Tasp1 C A 2: 139,793,457 (GRCm39) V240L probably damaging Het
Tdrd9 T A 12: 112,001,042 (GRCm39) F787L probably damaging Het
Vmn1r228 A G 17: 20,997,144 (GRCm39) S125P probably damaging Het
Wdhd1 A G 14: 47,489,379 (GRCm39) M718T 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
R0945:Nell1 UTSW 7 49,869,333 (GRCm39) missense probably benign 0.07
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
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'- ATGAACTGTTGCAACTTGGGC -3'
(R):5'- CTGTGCTGGGCAATCAGAAC -3'

Sequencing Primer
(F):5'- TAGCCGGGATCCTTGCATC -3'
(R):5'- GGGCAATCAGAACCCAAGC -3'
Posted On 2018-04-27