Incidental Mutation 'R0029:Nell1'
ID 44571
Institutional Source Beutler Lab
Gene Symbol Nell1
Ensembl Gene ENSMUSG00000055409
Gene Name NEL-like 1
Synonyms l7R6, B230343H07Rik
MMRRC Submission 038323-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0029 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 49625098-50513037 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 49770463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081872] [ENSMUST00000107603] [ENSMUST00000151721]
AlphaFold Q2VWQ2
Predicted Effect probably benign
Transcript: ENSMUST00000081872
SMART Domains Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409

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
SMART Domains Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409

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
SMART Domains Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 94% (48/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,225 (GRCm39) F434L probably benign Het
Abt1 A T 13: 23,606,678 (GRCm39) F141Y possibly damaging Het
Anapc15-ps A G 10: 95,508,857 (GRCm39) I141T probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Ccn4 C T 15: 66,784,713 (GRCm39) R129C probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cpa4 A G 6: 30,585,044 (GRCm39) Y276C probably damaging Het
Cpt1a A G 19: 3,431,674 (GRCm39) D698G probably benign Het
Crebbp T C 16: 3,935,307 (GRCm39) T861A probably damaging Het
Dpy19l2 T A 9: 24,469,397 (GRCm39) D753V probably damaging Het
Exosc7 A T 9: 122,948,302 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,157,357 (GRCm39) D244V probably damaging Het
Fgd5 A G 6: 92,044,539 (GRCm39) D1260G probably benign Het
Gapvd1 T A 2: 34,568,153 (GRCm39) I1404F probably damaging Het
Gas7 A G 11: 67,534,163 (GRCm39) S88G probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Il23r A C 6: 67,455,929 (GRCm39) probably null Het
Impg1 T C 9: 80,305,653 (GRCm39) D138G probably damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kirrel2 A G 7: 30,152,590 (GRCm39) probably benign Het
Lipm T C 19: 34,093,948 (GRCm39) probably benign Het
Lrpap1 T C 5: 35,255,021 (GRCm39) N205S possibly damaging Het
Mboat4 T G 8: 34,587,363 (GRCm39) F87V probably damaging Het
Nadsyn1 G C 7: 143,359,815 (GRCm39) Q386E probably benign Het
Or5ac25 T C 16: 59,181,904 (GRCm39) R226G probably benign Het
Or8g35 T A 9: 39,381,956 (GRCm39) E22V probably benign Het
Pard3 G T 8: 128,153,239 (GRCm39) probably benign Het
Per2 C A 1: 91,351,434 (GRCm39) R1024L possibly damaging Het
Phf11c T C 14: 59,622,364 (GRCm39) D216G probably benign Het
Polk G A 13: 96,653,178 (GRCm39) T74I probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psmb7 T A 2: 38,523,919 (GRCm39) H152L probably damaging Het
Ralgps1 A T 2: 33,031,031 (GRCm39) D498E probably benign Het
Slc26a2 G A 18: 61,335,382 (GRCm39) P24S possibly damaging Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Spmip11 T C 15: 98,483,190 (GRCm39) probably null Het
Stk38 T C 17: 29,201,112 (GRCm39) E188G probably benign Het
Sulf2 T C 2: 165,958,893 (GRCm39) N105S possibly damaging Het
Sult2a3 T A 7: 13,806,999 (GRCm39) M228L probably benign Het
Svil C A 18: 5,063,286 (GRCm39) D852E probably benign Het
Tcaf2 A T 6: 42,607,093 (GRCm39) L287* probably null Het
Tmem132e A T 11: 82,335,587 (GRCm39) I890F probably damaging Het
Tmem63a A G 1: 180,790,031 (GRCm39) Y401C probably benign Het
Ttn T C 2: 76,596,850 (GRCm39) E20021G probably damaging Het
Ubac1 G T 2: 25,911,455 (GRCm39) T31N probably benign Het
Usp29 T C 7: 6,964,580 (GRCm39) L141P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Vmn1r204 A G 13: 22,740,588 (GRCm39) Y73C probably benign Het
Vmn2r2 T C 3: 64,024,365 (GRCm39) I739V probably benign 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
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
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'- TTTTGAACTGGAGAGCAGTGGCCC -3'
(R):5'- AGCAGCAAAGCTTCTCAGACTCATC -3'

Sequencing Primer
(F):5'- CAAGAGAAGAGATACGCTATCATTAC -3'
(R):5'- ATGGAACTTCAGCCAGTGC -3'
Posted On 2013-06-11