Incidental Mutation 'R7097:Chl1'
ID 550554
Institutional Source Beutler Lab
Gene Symbol Chl1
Ensembl Gene ENSMUSG00000030077
Gene Name cell adhesion molecule L1-like
Synonyms A530023M13Rik, close homolog of L1, LICAM2, CALL
MMRRC Submission 045189-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R7097 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 103487372-103709999 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103683409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 745 (L745P)
Ref Sequence ENSEMBL: ENSMUSP00000063933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066905] [ENSMUST00000203830] [ENSMUST00000203912] [ENSMUST00000205098]
AlphaFold P70232
Predicted Effect probably damaging
Transcript: ENSMUST00000066905
AA Change: L745P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063933
Gene: ENSMUSG00000030077
AA Change: L745P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG_like 48 116 3.14e-2 SMART
IG 138 225 1.36e-5 SMART
IGc2 253 317 3.76e-17 SMART
IGc2 343 408 1.61e-7 SMART
IGc2 436 501 1.56e-5 SMART
IG 521 609 6.02e-7 SMART
IG_like 539 598 1.27e-1 SMART
FN3 612 695 2.24e-13 SMART
FN3 712 794 1.92e-3 SMART
FN3 810 901 2.3e-1 SMART
FN3 916 1002 4.09e-7 SMART
transmembrane domain 1082 1104 N/A INTRINSIC
Pfam:Bravo_FIGEY 1105 1190 3.9e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203830
AA Change: L745P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144758
Gene: ENSMUSG00000030077
AA Change: L745P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG_like 48 116 3.14e-2 SMART
IG 138 225 1.36e-5 SMART
IGc2 253 317 3.76e-17 SMART
IGc2 343 408 1.61e-7 SMART
IGc2 436 501 1.56e-5 SMART
IG 521 609 6.02e-7 SMART
IG_like 539 598 1.27e-1 SMART
FN3 612 695 2.24e-13 SMART
FN3 712 794 1.92e-3 SMART
FN3 810 901 2.3e-1 SMART
FN3 916 1002 4.09e-7 SMART
transmembrane domain 1082 1104 N/A INTRINSIC
Pfam:Bravo_FIGEY 1105 1190 3.9e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203912
AA Change: L761P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145026
Gene: ENSMUSG00000030077
AA Change: L761P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG_like 48 116 3.14e-2 SMART
IG 138 225 1.36e-5 SMART
IGc2 269 333 3.76e-17 SMART
IGc2 359 424 1.61e-7 SMART
IGc2 452 517 1.56e-5 SMART
IG 537 625 6.02e-7 SMART
IG_like 555 614 1.27e-1 SMART
FN3 628 711 2.24e-13 SMART
FN3 728 810 1.92e-3 SMART
FN3 826 917 2.3e-1 SMART
FN3 932 1018 4.09e-7 SMART
transmembrane domain 1044 1066 N/A INTRINSIC
Pfam:Bravo_FIGEY 1067 1131 2.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205098
AA Change: L18P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144739
Gene: ENSMUSG00000030077
AA Change: L18P

DomainStartEndE-ValueType
FN3 4 67 4.4e-1 SMART
FN3 83 174 1.2e-3 SMART
FN3 189 275 2.1e-9 SMART
transmembrane domain 301 323 N/A INTRINSIC
Pfam:Bravo_FIGEY 324 409 3.6e-30 PFAM
Meta Mutation Damage Score 0.6998 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous mutation of this gene results in enlargement of the lateral ventricles and altered hippocampal mossy fiber organization. Mutant animals exhibit altered exploratory behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A G 17: 9,224,052 (GRCm39) N435S probably damaging Het
Aip A T 19: 4,165,381 (GRCm39) V195E probably benign Het
Amer3 A T 1: 34,627,869 (GRCm39) I703F probably benign Het
Amfr T C 8: 94,738,637 (GRCm39) E7G probably benign Het
Angel1 A G 12: 86,773,158 (GRCm39) S4P probably damaging Het
Atp2c1 A G 9: 105,341,850 (GRCm39) I146T probably damaging Het
Atp6v0e A G 17: 26,914,390 (GRCm39) T72A probably benign Het
Bahcc1 T C 11: 120,163,472 (GRCm39) V590A possibly damaging Het
Bcl6 A G 16: 23,791,364 (GRCm39) V330A possibly damaging Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Btaf1 C T 19: 36,926,502 (GRCm39) T58I probably damaging Het
Ccdc175 A T 12: 72,175,183 (GRCm39) probably null Het
Cdca4 C A 12: 112,785,189 (GRCm39) V180L probably benign Het
Ces1g C A 8: 94,043,665 (GRCm39) G425C possibly damaging Het
Clec4g T A 8: 3,769,518 (GRCm39) T42S possibly damaging Het
Ctsg A C 14: 56,337,489 (GRCm39) I238S probably damaging Het
Cyb5rl A T 4: 106,944,513 (GRCm39) E41V unknown Het
Dcdc2a A G 13: 25,291,681 (GRCm39) E222G probably benign Het
Dnaaf1 G T 8: 120,323,538 (GRCm39) G509V possibly damaging Het
Dnah5 A G 15: 28,453,410 (GRCm39) I4394V probably benign Het
Dot1l T G 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Dst T G 1: 34,208,341 (GRCm39) I1089S probably damaging Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Eps8l3 A G 3: 107,791,801 (GRCm39) probably null Het
Fam135b A G 15: 71,493,917 (GRCm39) V4A possibly damaging Het
Fnip2 T C 3: 79,388,313 (GRCm39) E806G probably benign Het
Fryl T A 5: 73,231,251 (GRCm39) I1609F probably benign Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Hecw2 T A 1: 53,904,283 (GRCm39) Y1155F possibly damaging Het
Kif20b T A 19: 34,951,892 (GRCm39) N1723K probably damaging Het
Kif2b T C 11: 91,467,650 (GRCm39) D211G probably benign Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Med16 C T 10: 79,739,177 (GRCm39) G203D probably damaging Het
Mrgpra3 T A 7: 47,239,389 (GRCm39) Y179F probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo18b A G 5: 113,022,271 (GRCm39) S374P unknown Het
Myoz1 A G 14: 20,699,477 (GRCm39) I287T possibly damaging Het
Ncoa6 T C 2: 155,279,983 (GRCm39) D11G probably benign Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nmur1 T C 1: 86,315,230 (GRCm39) T212A probably damaging Het
Oacyl A G 18: 65,853,323 (GRCm39) D143G probably benign Het
Obox5 A G 7: 15,492,732 (GRCm39) Y229C probably damaging Het
Or10d1c A T 9: 38,893,914 (GRCm39) M142K probably benign Het
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G T 2: 36,624,436 (GRCm39) M34I probably benign Het
Or1x2 C A 11: 50,918,428 (GRCm39) L200I probably benign Het
Or8c13 A T 9: 38,091,632 (GRCm39) C162* probably null Het
Pcdhb17 A C 18: 37,619,566 (GRCm39) N452T probably benign Het
Pear1 T G 3: 87,658,752 (GRCm39) H901P probably benign Het
Peds1 C G 2: 167,503,398 (GRCm39) A7P probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pip5k1b T G 19: 24,335,424 (GRCm39) E362D probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prdm16 G T 4: 154,429,925 (GRCm39) T348K probably damaging Het
Prkdc T A 16: 15,507,207 (GRCm39) F896I probably damaging Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Ptpn14 G A 1: 189,595,595 (GRCm39) W739* probably null Het
Rfx5 G T 3: 94,863,850 (GRCm39) G135C probably damaging Het
Scmh1 A G 4: 120,382,252 (GRCm39) H573R probably benign Het
Serpina5 G T 12: 104,068,554 (GRCm39) probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Slc6a17 C G 3: 107,400,464 (GRCm39) G222R probably damaging Het
Sp110 C T 1: 85,507,406 (GRCm39) G367D possibly damaging Het
Srcap C A 7: 127,138,213 (GRCm39) L1128M probably damaging Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trav6-4 A T 14: 53,692,049 (GRCm39) Y52F probably benign Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Trub2 A G 2: 29,669,838 (GRCm39) V177A possibly damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Wnk2 C A 13: 49,256,314 (GRCm39) R269L possibly damaging Het
Zc3h12c T A 9: 52,027,226 (GRCm39) Q731L possibly damaging Het
Other mutations in Chl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Chl1 APN 6 103,670,022 (GRCm39) missense probably benign 0.08
IGL00786:Chl1 APN 6 103,652,106 (GRCm39) missense probably damaging 1.00
IGL00959:Chl1 APN 6 103,686,211 (GRCm39) splice site probably null
IGL01109:Chl1 APN 6 103,692,354 (GRCm39) missense probably damaging 1.00
IGL01354:Chl1 APN 6 103,642,814 (GRCm39) missense probably benign 0.01
IGL01367:Chl1 APN 6 103,706,186 (GRCm39) missense probably benign 0.42
IGL01371:Chl1 APN 6 103,692,325 (GRCm39) missense probably damaging 1.00
IGL01599:Chl1 APN 6 103,685,445 (GRCm39) missense probably benign 0.34
IGL01724:Chl1 APN 6 103,626,534 (GRCm39) missense probably damaging 1.00
IGL02001:Chl1 APN 6 103,619,017 (GRCm39) missense possibly damaging 0.90
IGL02066:Chl1 APN 6 103,675,185 (GRCm39) missense probably benign 0.39
IGL02122:Chl1 APN 6 103,652,098 (GRCm39) missense probably benign 0.39
IGL02340:Chl1 APN 6 103,675,086 (GRCm39) missense probably damaging 1.00
IGL02420:Chl1 APN 6 103,692,330 (GRCm39) missense probably damaging 1.00
IGL02421:Chl1 APN 6 103,694,541 (GRCm39) missense probably damaging 1.00
IGL02429:Chl1 APN 6 103,641,770 (GRCm39) unclassified probably benign
IGL02825:Chl1 APN 6 103,645,764 (GRCm39) missense possibly damaging 0.87
IGL02858:Chl1 APN 6 103,618,949 (GRCm39) missense probably damaging 1.00
IGL03169:Chl1 APN 6 103,642,928 (GRCm39) missense probably damaging 1.00
IGL03185:Chl1 APN 6 103,642,824 (GRCm39) missense probably damaging 1.00
IGL03189:Chl1 APN 6 103,660,168 (GRCm39) missense possibly damaging 0.91
IGL03288:Chl1 APN 6 103,652,058 (GRCm39) missense probably damaging 1.00
IGL03404:Chl1 APN 6 103,670,052 (GRCm39) missense probably damaging 1.00
IGL03052:Chl1 UTSW 6 103,668,628 (GRCm39) missense probably benign 0.01
R0060:Chl1 UTSW 6 103,688,019 (GRCm39) splice site probably benign
R0060:Chl1 UTSW 6 103,688,019 (GRCm39) splice site probably benign
R0062:Chl1 UTSW 6 103,726,613 (GRCm39) missense unknown
R0314:Chl1 UTSW 6 103,624,262 (GRCm39) missense probably damaging 1.00
R0322:Chl1 UTSW 6 103,678,844 (GRCm39) splice site probably benign
R0685:Chl1 UTSW 6 103,685,503 (GRCm39) splice site probably null
R0702:Chl1 UTSW 6 103,683,583 (GRCm39) missense probably damaging 1.00
R1056:Chl1 UTSW 6 103,652,038 (GRCm39) missense possibly damaging 0.66
R1138:Chl1 UTSW 6 103,670,140 (GRCm39) missense probably benign 0.05
R1483:Chl1 UTSW 6 103,624,248 (GRCm39) missense probably damaging 1.00
R1571:Chl1 UTSW 6 103,685,445 (GRCm39) missense probably benign 0.34
R1620:Chl1 UTSW 6 103,667,203 (GRCm39) missense probably benign 0.00
R1645:Chl1 UTSW 6 103,660,141 (GRCm39) missense probably benign 0.06
R1773:Chl1 UTSW 6 103,624,292 (GRCm39) critical splice donor site probably null
R1852:Chl1 UTSW 6 103,676,120 (GRCm39) splice site probably null
R1891:Chl1 UTSW 6 103,691,544 (GRCm39) missense possibly damaging 0.88
R2146:Chl1 UTSW 6 103,692,362 (GRCm39) critical splice donor site probably null
R2147:Chl1 UTSW 6 103,692,362 (GRCm39) critical splice donor site probably null
R2148:Chl1 UTSW 6 103,692,362 (GRCm39) critical splice donor site probably null
R2163:Chl1 UTSW 6 103,688,192 (GRCm39) missense probably damaging 1.00
R2291:Chl1 UTSW 6 103,692,354 (GRCm39) missense probably damaging 1.00
R2920:Chl1 UTSW 6 103,672,304 (GRCm39) missense probably damaging 1.00
R3611:Chl1 UTSW 6 103,675,116 (GRCm39) missense probably damaging 1.00
R3979:Chl1 UTSW 6 103,692,245 (GRCm39) nonsense probably null
R4987:Chl1 UTSW 6 103,651,938 (GRCm39) missense probably damaging 1.00
R5266:Chl1 UTSW 6 103,677,504 (GRCm39) missense probably damaging 1.00
R5478:Chl1 UTSW 6 103,660,182 (GRCm39) missense probably damaging 1.00
R5523:Chl1 UTSW 6 103,685,675 (GRCm39) missense probably damaging 1.00
R5887:Chl1 UTSW 6 103,694,565 (GRCm39) missense probably benign 0.00
R5986:Chl1 UTSW 6 103,686,152 (GRCm39) missense probably benign 0.45
R6101:Chl1 UTSW 6 103,669,993 (GRCm39) missense probably damaging 0.96
R6179:Chl1 UTSW 6 103,660,204 (GRCm39) missense probably benign 0.38
R6366:Chl1 UTSW 6 103,706,197 (GRCm39) missense possibly damaging 0.95
R6634:Chl1 UTSW 6 103,667,220 (GRCm39) missense probably damaging 1.00
R6824:Chl1 UTSW 6 103,691,510 (GRCm39) missense probably damaging 1.00
R6913:Chl1 UTSW 6 103,642,909 (GRCm39) nonsense probably null
R7122:Chl1 UTSW 6 103,683,409 (GRCm39) missense probably damaging 1.00
R7198:Chl1 UTSW 6 103,683,517 (GRCm39) missense probably damaging 1.00
R7203:Chl1 UTSW 6 103,668,635 (GRCm39) missense probably benign 0.13
R7527:Chl1 UTSW 6 103,688,162 (GRCm39) missense probably damaging 1.00
R7625:Chl1 UTSW 6 103,706,086 (GRCm39) missense probably damaging 1.00
R7667:Chl1 UTSW 6 103,672,456 (GRCm39) missense possibly damaging 0.82
R7683:Chl1 UTSW 6 103,668,613 (GRCm39) missense possibly damaging 0.72
R7712:Chl1 UTSW 6 103,688,063 (GRCm39) missense possibly damaging 0.94
R7838:Chl1 UTSW 6 103,668,635 (GRCm39) missense probably benign 0.01
R7863:Chl1 UTSW 6 103,683,475 (GRCm39) missense possibly damaging 0.46
R7874:Chl1 UTSW 6 103,667,224 (GRCm39) missense probably benign 0.22
R7998:Chl1 UTSW 6 103,706,250 (GRCm39) missense probably benign 0.01
R8044:Chl1 UTSW 6 103,683,593 (GRCm39) missense probably damaging 0.96
R8059:Chl1 UTSW 6 103,651,948 (GRCm39) missense probably damaging 0.97
R8462:Chl1 UTSW 6 103,706,130 (GRCm39) missense probably benign 0.11
R8558:Chl1 UTSW 6 103,685,390 (GRCm39) missense probably benign 0.14
R8827:Chl1 UTSW 6 103,670,111 (GRCm39) missense probably benign
R8865:Chl1 UTSW 6 103,685,822 (GRCm39) missense probably damaging 0.99
R8939:Chl1 UTSW 6 103,642,868 (GRCm39) missense probably damaging 1.00
R9092:Chl1 UTSW 6 103,645,815 (GRCm39) unclassified probably benign
Z1177:Chl1 UTSW 6 103,674,910 (GRCm39) start gained probably benign
Z1177:Chl1 UTSW 6 103,670,057 (GRCm39) nonsense probably null
Z1191:Chl1 UTSW 6 103,660,172 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGTCTCAAAATAGTGGAAGATTGC -3'
(R):5'- TGAATAGAGTGTCACTGGCTG -3'

Sequencing Primer
(F):5'- AAAATAACAAATCTGCTTCTGACTTG -3'
(R):5'- AGTGTCACTGGCTGAGGGTC -3'
Posted On 2019-05-15