Incidental Mutation 'R8988:Nell1'
ID 684223
Institutional Source Beutler Lab
Gene Symbol Nell1
Ensembl Gene ENSMUSG00000055409
Gene Name NEL-like 1
Synonyms l7R6, B230343H07Rik
MMRRC Submission 068820-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8988 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 49625098-50513037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50210543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 348 (T348I)
Ref Sequence ENSEMBL: ENSMUSP00000114706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081872] [ENSMUST00000107603] [ENSMUST00000151721]
AlphaFold Q2VWQ2
Predicted Effect silent
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 silent
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 unknown
Transcript: ENSMUST00000151721
AA Change: T348I
SMART Domains Protein: ENSMUSP00000114706
Gene: ENSMUSG00000055409
AA Change: T348I

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSPN 29 213 8.5e-72 SMART
LamG 81 208 1.77e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (81/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,489,251 (GRCm39) T291I probably benign Het
Aox1 A C 1: 58,088,625 (GRCm39) D137A possibly damaging Het
Apbb2 T C 5: 66,609,444 (GRCm39) K68E probably damaging Het
Arf3 A T 15: 98,638,933 (GRCm39) M108K probably benign Het
Atg2b T A 12: 105,583,388 (GRCm39) I2058F probably damaging Het
Bhlhe40 C T 6: 108,639,518 (GRCm39) L99F probably damaging Het
Cd200l1 T C 16: 45,238,271 (GRCm39) H294R probably benign Het
Cyp2b10 G A 7: 25,625,670 (GRCm39) R500H probably damaging Het
Dlc1 C T 8: 37,039,997 (GRCm39) E937K probably damaging Het
Dll3 A T 7: 27,995,793 (GRCm39) V336D possibly damaging Het
Dync2h1 A G 9: 7,037,727 (GRCm39) F3377L probably benign Het
Eef1d A G 15: 75,768,160 (GRCm39) Y561H probably damaging Het
Efcab3 T G 11: 104,911,352 (GRCm39) V4544G probably benign Het
Epb41l1 C A 2: 156,363,591 (GRCm39) T700K probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Ephb2 C A 4: 136,402,769 (GRCm39) G501C probably benign Het
Erbb3 T C 10: 128,406,030 (GRCm39) Y1129C probably damaging Het
Fbn1 C T 2: 125,212,726 (GRCm39) V799M possibly damaging Het
Fbxo9 G A 9: 77,991,933 (GRCm39) P353S probably benign Het
Ggt1 T G 10: 75,412,056 (GRCm39) V100G probably benign Het
Gm45861 T C 8: 28,032,531 (GRCm39) M885T unknown Het
Grin2d A T 7: 45,483,425 (GRCm39) Y917* probably null Het
Hectd4 T A 5: 121,415,819 (GRCm39) V540D possibly damaging Het
Helz T A 11: 107,495,079 (GRCm39) I351K probably damaging Het
Ighv2-6-8 A G 12: 113,759,980 (GRCm39) V43A probably damaging Het
Igkv9-129 T A 6: 67,817,106 (GRCm39) I70N probably damaging Het
Il18 A T 9: 50,489,178 (GRCm39) D69V probably damaging Het
Kcnh7 T A 2: 62,552,209 (GRCm39) E927D Het
Kcnt2 T A 1: 140,356,587 (GRCm39) V342E probably benign Het
Khdc4 A G 3: 88,607,286 (GRCm39) N330S probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Krt18 C G 15: 101,937,962 (GRCm39) A153G probably damaging Het
Lmntd2 A T 7: 140,791,977 (GRCm39) probably benign Het
Lrrc26 G T 2: 25,180,286 (GRCm39) A96S probably benign Het
Map3k11 A T 19: 5,752,166 (GRCm39) S783C probably damaging Het
Mib2 G A 4: 155,740,729 (GRCm39) L632F possibly damaging Het
Mical2 A C 7: 111,910,661 (GRCm39) D277A possibly damaging Het
Mtr A T 13: 12,250,365 (GRCm39) F339L probably benign Het
Musk T C 4: 58,354,032 (GRCm39) F362L probably benign Het
Ncor1 G A 11: 62,233,871 (GRCm39) Q444* probably null Het
Nek4 T C 14: 30,685,924 (GRCm39) S279P Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nrip1 T C 16: 76,088,902 (GRCm39) H885R probably damaging Het
Or13a19 G A 7: 139,902,938 (GRCm39) G109R possibly damaging Het
Or2a5 T A 6: 42,874,201 (GRCm39) V272D Het
Or2y12 C A 11: 49,426,028 (GRCm39) N5K probably damaging Het
Or6c208 T C 10: 129,224,240 (GRCm39) V246A probably damaging Het
Or6c69c T A 10: 129,910,522 (GRCm39) V81D possibly damaging Het
Or6d14 A G 6: 116,534,255 (GRCm39) T290A possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
P3h3 C A 6: 124,834,564 (GRCm39) Q29H possibly damaging Het
Parn A G 16: 13,466,281 (GRCm39) probably null Het
Pcnt C A 10: 76,245,407 (GRCm39) E1077* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pigb A G 9: 72,929,576 (GRCm39) W336R probably damaging Het
Pkdrej A T 15: 85,700,538 (GRCm39) S1799R probably damaging Het
Pnpla6 G T 8: 3,567,401 (GRCm39) M86I possibly damaging Het
Prickle2 T C 6: 92,435,620 (GRCm39) K50E possibly damaging Het
Psg21 A G 7: 18,386,389 (GRCm39) V199A probably benign Het
Reep3 T C 10: 66,871,786 (GRCm39) probably null Het
Reln T C 5: 22,104,155 (GRCm39) D3272G probably damaging Het
Rps6ka4 A G 19: 6,808,667 (GRCm39) V526A possibly damaging Het
Sel1l3 T C 5: 53,280,771 (GRCm39) E911G probably damaging Het
Serpinb6b C A 13: 33,162,125 (GRCm39) A308E probably benign Het
Slc26a4 A G 12: 31,572,523 (GRCm39) V746A probably benign Het
Slc4a3 T G 1: 75,527,957 (GRCm39) M402R probably damaging Het
Slc9b1 A T 3: 135,078,900 (GRCm39) T186S possibly damaging Het
Slk A G 19: 47,608,712 (GRCm39) Q555R probably benign Het
Smc2 T A 4: 52,475,100 (GRCm39) D925E probably benign Het
Stat5a A T 11: 100,774,764 (GRCm39) T758S unknown Het
Sulf1 A G 1: 12,906,499 (GRCm39) S514G probably benign Het
Tcp11l1 T A 2: 104,536,853 (GRCm39) N4I probably damaging Het
Tex2 A T 11: 106,402,731 (GRCm39) I1047K unknown Het
Tmem184b A G 15: 79,261,264 (GRCm39) V114A possibly damaging Het
Trmt11 A G 10: 30,467,027 (GRCm39) V95A probably benign Het
Trp53bp2 A G 1: 182,268,433 (GRCm39) D169G possibly damaging Het
Ttc41 T A 10: 86,549,599 (GRCm39) N264K possibly damaging Het
Uba2 A C 7: 33,853,987 (GRCm39) S318R probably benign Het
Wapl T A 14: 34,451,139 (GRCm39) N724K probably damaging Het
Wfdc9 T A 2: 164,493,671 (GRCm39) I5F probably damaging Het
Zan C T 5: 137,406,563 (GRCm39) D3686N unknown Het
Zfp618 A T 4: 63,012,708 (GRCm39) Y140F probably benign Het
Zfp790 A G 7: 29,527,593 (GRCm39) T93A probably benign Het
Zfp979 A C 4: 147,697,984 (GRCm39) F242V 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
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
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'- GGAAATTCACCAACACCGTG -3'
(R):5'- CAGGAATCCTGCTCATGAACATC -3'

Sequencing Primer
(F):5'- TTCACCAACACCGTGATTGAG -3'
(R):5'- TGAACATCACAGGCTCAGG -3'
Posted On 2021-10-11