Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01371:Chl1'

76146

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chl1

Ensembl Gene

ENSMUSG00000030077

Gene Name

cell adhesion molecule L1-like

Synonyms

A530023M13Rik, LICAM2, close homolog of L1, CALL

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

103510586-103750211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103715364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1064 (C1064F)

Ref Sequence

ENSEMBL: ENSMUSP00000145026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066905] [ENSMUST00000203830] [ENSMUST00000203912] [ENSMUST00000205098]

AlphaFold

P70232

Predicted Effect

probably damaging
Transcript: ENSMUST00000066905
AA Change: C1102F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063933
Gene: ENSMUSG00000030077
AA Change: C1102F

Domain	Start	End	E-Value	Type
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: C1102F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144758
Gene: ENSMUSG00000030077
AA Change: C1102F

Domain	Start	End	E-Value	Type
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: C1064F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145026
Gene: ENSMUSG00000030077
AA Change: C1064F

Domain	Start	End	E-Value	Type
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: C321F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144739
Gene: ENSMUSG00000030077
AA Change: C321F

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,254,776 (GRCm38)	E504G	possibly damaging	Het
Abcc9	C	T	6: 142,656,614 (GRCm38)	R691Q	probably benign	Het
AI314180	A	G	4: 58,809,718 (GRCm38)	L1583P	probably damaging	Het
Ambra1	G	T	2: 91,825,286 (GRCm38)	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,682,960 (GRCm38)	I198V	probably benign	Het
Bptf	T	C	11: 107,055,907 (GRCm38)	N2353S	probably benign	Het
Cd84	A	T	1: 171,886,370 (GRCm38)	T312S	probably benign	Het
Clca4a	T	C	3: 144,960,672 (GRCm38)	D473G	probably damaging	Het
Dsp	A	G	13: 38,193,617 (GRCm38)	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,638,851 (GRCm38)	N2374S	probably benign	Het
Gm43191	A	T	3: 116,645,463 (GRCm38)	I130N	probably damaging	Het
Gm5134	T	G	10: 76,004,747 (GRCm38)	L475R	probably damaging	Het
Grm1	A	G	10: 10,720,039 (GRCm38)	V615A	probably benign	Het
Loxl1	T	A	9: 58,294,422 (GRCm38)	Q462L	possibly damaging	Het
Nwd1	T	C	8: 72,675,115 (GRCm38)	W755R	probably damaging	Het
Olfr1102	A	T	2: 87,002,923 (GRCm38)	K318M	probably benign	Het
Olfr1408	A	G	1: 173,130,531 (GRCm38)	S229P	possibly damaging	Het
Olfr1459	G	A	19: 13,145,828 (GRCm38)	T277I	possibly damaging	Het
Otud4	T	C	8: 79,673,761 (GRCm38)	F1034L	probably damaging	Het
Pakap	C	A	4: 57,856,325 (GRCm38)	D551E	probably benign	Het
Panx3	T	G	9: 37,661,475 (GRCm38)	T260P	probably benign	Het
Ppfia4	A	T	1: 134,328,086 (GRCm38)	S194T	probably benign	Het
Rnf135	T	A	11: 80,189,255 (GRCm38)	I124N	probably benign	Het
Rpf1	T	C	3: 146,507,547 (GRCm38)	N283S	probably damaging	Het
Smg5	A	G	3: 88,359,644 (GRCm38)		probably benign	Het
Stard9	A	G	2: 120,701,368 (GRCm38)	E2702G	probably benign	Het
Tbk1	A	T	10: 121,559,871 (GRCm38)	M439K	probably benign	Het
Tmem235	T	C	11: 117,862,306 (GRCm38)	L85P	possibly damaging	Het
Trhde	A	T	10: 114,588,500 (GRCm38)	V460E	possibly damaging	Het
Ttn	T	C	2: 76,790,264 (GRCm38)		probably benign	Het
Vmn1r83	A	G	7: 12,321,233 (GRCm38)	F299S	probably benign	Het

Other mutations in Chl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Chl1	APN	6	103,693,061 (GRCm38)	missense	probably benign	0.08
IGL00786:Chl1	APN	6	103,675,145 (GRCm38)	missense	probably damaging	1.00
IGL00959:Chl1	APN	6	103,709,250 (GRCm38)	splice site	probably null
IGL01109:Chl1	APN	6	103,715,393 (GRCm38)	missense	probably damaging	1.00
IGL01354:Chl1	APN	6	103,665,853 (GRCm38)	missense	probably benign	0.01
IGL01367:Chl1	APN	6	103,729,225 (GRCm38)	missense	probably benign	0.42
IGL01599:Chl1	APN	6	103,708,484 (GRCm38)	missense	probably benign	0.34
IGL01724:Chl1	APN	6	103,649,573 (GRCm38)	missense	probably damaging	1.00
IGL02001:Chl1	APN	6	103,642,056 (GRCm38)	missense	possibly damaging	0.90
IGL02066:Chl1	APN	6	103,698,224 (GRCm38)	missense	probably benign	0.39
IGL02122:Chl1	APN	6	103,675,137 (GRCm38)	missense	probably benign	0.39
IGL02340:Chl1	APN	6	103,698,125 (GRCm38)	missense	probably damaging	1.00
IGL02420:Chl1	APN	6	103,715,369 (GRCm38)	missense	probably damaging	1.00
IGL02421:Chl1	APN	6	103,717,580 (GRCm38)	missense	probably damaging	1.00
IGL02429:Chl1	APN	6	103,664,809 (GRCm38)	unclassified	probably benign
IGL02825:Chl1	APN	6	103,668,803 (GRCm38)	missense	possibly damaging	0.87
IGL02858:Chl1	APN	6	103,641,988 (GRCm38)	missense	probably damaging	1.00
IGL03169:Chl1	APN	6	103,665,967 (GRCm38)	missense	probably damaging	1.00
IGL03185:Chl1	APN	6	103,665,863 (GRCm38)	missense	probably damaging	1.00
IGL03189:Chl1	APN	6	103,683,207 (GRCm38)	missense	possibly damaging	0.91
IGL03288:Chl1	APN	6	103,675,097 (GRCm38)	missense	probably damaging	1.00
IGL03404:Chl1	APN	6	103,693,091 (GRCm38)	missense	probably damaging	1.00
IGL03052:Chl1	UTSW	6	103,691,667 (GRCm38)	missense	probably benign	0.01
R0060:Chl1	UTSW	6	103,711,058 (GRCm38)	splice site	probably benign
R0060:Chl1	UTSW	6	103,711,058 (GRCm38)	splice site	probably benign
R0062:Chl1	UTSW	6	103,749,652 (GRCm38)	missense	unknown
R0314:Chl1	UTSW	6	103,647,301 (GRCm38)	missense	probably damaging	1.00
R0322:Chl1	UTSW	6	103,701,883 (GRCm38)	splice site	probably benign
R0685:Chl1	UTSW	6	103,708,542 (GRCm38)	splice site	probably null
R0702:Chl1	UTSW	6	103,706,622 (GRCm38)	missense	probably damaging	1.00
R1056:Chl1	UTSW	6	103,675,077 (GRCm38)	missense	possibly damaging	0.66
R1138:Chl1	UTSW	6	103,693,179 (GRCm38)	missense	probably benign	0.05
R1483:Chl1	UTSW	6	103,647,287 (GRCm38)	missense	probably damaging	1.00
R1571:Chl1	UTSW	6	103,708,484 (GRCm38)	missense	probably benign	0.34
R1620:Chl1	UTSW	6	103,690,242 (GRCm38)	missense	probably benign	0.00
R1645:Chl1	UTSW	6	103,683,180 (GRCm38)	missense	probably benign	0.06
R1773:Chl1	UTSW	6	103,647,331 (GRCm38)	critical splice donor site	probably null
R1852:Chl1	UTSW	6	103,699,159 (GRCm38)	splice site	probably null
R1891:Chl1	UTSW	6	103,714,583 (GRCm38)	missense	possibly damaging	0.88
R2146:Chl1	UTSW	6	103,715,401 (GRCm38)	critical splice donor site	probably null
R2147:Chl1	UTSW	6	103,715,401 (GRCm38)	critical splice donor site	probably null
R2148:Chl1	UTSW	6	103,715,401 (GRCm38)	critical splice donor site	probably null
R2163:Chl1	UTSW	6	103,711,231 (GRCm38)	missense	probably damaging	1.00
R2291:Chl1	UTSW	6	103,715,393 (GRCm38)	missense	probably damaging	1.00
R2920:Chl1	UTSW	6	103,695,343 (GRCm38)	missense	probably damaging	1.00
R3611:Chl1	UTSW	6	103,698,155 (GRCm38)	missense	probably damaging	1.00
R3979:Chl1	UTSW	6	103,715,284 (GRCm38)	nonsense	probably null
R4987:Chl1	UTSW	6	103,674,977 (GRCm38)	missense	probably damaging	1.00
R5266:Chl1	UTSW	6	103,700,543 (GRCm38)	missense	probably damaging	1.00
R5478:Chl1	UTSW	6	103,683,221 (GRCm38)	missense	probably damaging	1.00
R5523:Chl1	UTSW	6	103,708,714 (GRCm38)	missense	probably damaging	1.00
R5887:Chl1	UTSW	6	103,717,604 (GRCm38)	missense	probably benign	0.00
R5986:Chl1	UTSW	6	103,709,191 (GRCm38)	missense	probably benign	0.45
R6101:Chl1	UTSW	6	103,693,032 (GRCm38)	missense	probably damaging	0.96
R6179:Chl1	UTSW	6	103,683,243 (GRCm38)	missense	probably benign	0.38
R6366:Chl1	UTSW	6	103,729,236 (GRCm38)	missense	possibly damaging	0.95
R6634:Chl1	UTSW	6	103,690,259 (GRCm38)	missense	probably damaging	1.00
R6824:Chl1	UTSW	6	103,714,549 (GRCm38)	missense	probably damaging	1.00
R6913:Chl1	UTSW	6	103,665,948 (GRCm38)	nonsense	probably null
R7097:Chl1	UTSW	6	103,706,448 (GRCm38)	missense	probably damaging	1.00
R7122:Chl1	UTSW	6	103,706,448 (GRCm38)	missense	probably damaging	1.00
R7198:Chl1	UTSW	6	103,706,556 (GRCm38)	missense	probably damaging	1.00
R7203:Chl1	UTSW	6	103,691,674 (GRCm38)	missense	probably benign	0.13
R7527:Chl1	UTSW	6	103,711,201 (GRCm38)	missense	probably damaging	1.00
R7625:Chl1	UTSW	6	103,729,125 (GRCm38)	missense	probably damaging	1.00
R7667:Chl1	UTSW	6	103,695,495 (GRCm38)	missense	possibly damaging	0.82
R7683:Chl1	UTSW	6	103,691,652 (GRCm38)	missense	possibly damaging	0.72
R7712:Chl1	UTSW	6	103,711,102 (GRCm38)	missense	possibly damaging	0.94
R7838:Chl1	UTSW	6	103,691,674 (GRCm38)	missense	probably benign	0.01
R7863:Chl1	UTSW	6	103,706,514 (GRCm38)	missense	possibly damaging	0.46
R7874:Chl1	UTSW	6	103,690,263 (GRCm38)	missense	probably benign	0.22
R7998:Chl1	UTSW	6	103,729,289 (GRCm38)	missense	probably benign	0.01
R8044:Chl1	UTSW	6	103,706,632 (GRCm38)	missense	probably damaging	0.96
R8059:Chl1	UTSW	6	103,674,987 (GRCm38)	missense	probably damaging	0.97
R8462:Chl1	UTSW	6	103,729,169 (GRCm38)	missense	probably benign	0.11
R8558:Chl1	UTSW	6	103,708,429 (GRCm38)	missense	probably benign	0.14
R8827:Chl1	UTSW	6	103,693,150 (GRCm38)	missense	probably benign
R8865:Chl1	UTSW	6	103,708,861 (GRCm38)	missense	probably damaging	0.99
R8939:Chl1	UTSW	6	103,665,907 (GRCm38)	missense	probably damaging	1.00
R9092:Chl1	UTSW	6	103,668,854 (GRCm38)	unclassified	probably benign
Z1177:Chl1	UTSW	6	103,697,949 (GRCm38)	start gained	probably benign
Z1177:Chl1	UTSW	6	103,693,096 (GRCm38)	nonsense	probably null
Z1191:Chl1	UTSW	6	103,683,211 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-10-07