Mutagenetix > Incidental Mutation

Incidental Mutation 'R1620:Chl1'

174604

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

039657-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R1620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103487372-103709999 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103667203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 398 (F398L)

Ref Sequence

ENSEMBL: ENSMUSP00000145026 (fasta)

Gene Model

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

AlphaFold

P70232

Predicted Effect

probably benign
Transcript: ENSMUST00000066905
AA Change: F382L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000063933
Gene: ENSMUSG00000030077
AA Change: F382L

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 benign
Transcript: ENSMUST00000203830
AA Change: F382L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144758
Gene: ENSMUSG00000030077
AA Change: F382L

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 benign
Transcript: ENSMUST00000203912
AA Change: F398L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145026
Gene: ENSMUSG00000030077
AA Change: F398L

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

Meta Mutation Damage Score

0.1123

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

95% (58/61)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c2	T	C	8: 120,475,865 (GRCm39)	V586A	probably benign	Het
Atp8a2	T	A	14: 60,028,632 (GRCm39)	H945L	probably benign	Het
Bfar	G	T	16: 13,506,710 (GRCm39)	V187F	probably damaging	Het
Capn2	A	T	1: 182,344,702 (GRCm39)	I73N	probably damaging	Het
Cfc1	C	A	1: 34,575,554 (GRCm39)	A76E	possibly damaging	Het
Cyp2u1	A	G	3: 131,096,350 (GRCm39)	S143P	probably damaging	Het
Dlgap4	T	A	2: 156,591,056 (GRCm39)	Y57*	probably null	Het
Epha4	T	A	1: 77,351,563 (GRCm39)	R897S	probably benign	Het
Fscn2	A	T	11: 120,257,511 (GRCm39)	T291S	probably damaging	Het
Gga1	G	A	15: 78,772,670 (GRCm39)	S267N	probably damaging	Het
Gigyf2	A	G	1: 87,376,850 (GRCm39)	T1287A	probably damaging	Het
Gm10845	C	A	14: 80,100,669 (GRCm39)		noncoding transcript	Het
Gm11559	T	A	11: 99,755,882 (GRCm39)	L177Q	unknown	Het
Itga9	A	G	9: 118,672,570 (GRCm39)	T195A	probably benign	Het
Krbox5	T	C	13: 67,991,109 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,074,028 (GRCm39)	T935A	probably benign	Het
Lrrk1	G	T	7: 66,031,286 (GRCm39)	T4K	probably benign	Het
Lrrn1	G	A	6: 107,545,327 (GRCm39)	C375Y	probably damaging	Het
Maip1	T	C	1: 57,449,144 (GRCm39)		probably null	Het
Mecom	A	T	3: 30,041,237 (GRCm39)	I119N	probably damaging	Het
Mrpl2	G	A	17: 46,958,425 (GRCm39)	R69H	probably benign	Het
Muc16	A	G	9: 18,421,773 (GRCm39)	V8246A	possibly damaging	Het
Myh3	C	T	11: 66,979,562 (GRCm39)		probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myot	A	T	18: 44,470,125 (GRCm39)	Q34L	possibly damaging	Het
Nlrp5	A	G	7: 23,118,064 (GRCm39)	D596G	probably damaging	Het
Npas2	T	C	1: 39,372,993 (GRCm39)	S415P	possibly damaging	Het
Obox2	A	G	7: 15,130,966 (GRCm39)	E66G	probably benign	Het
Or4f59	G	T	2: 111,872,591 (GRCm39)	T262K	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Phactr1	G	T	13: 43,248,373 (GRCm39)	V356L	probably damaging	Het
Pparg	A	T	6: 115,450,242 (GRCm39)	I414L	probably benign	Het
Rapgef6	A	T	11: 54,517,420 (GRCm39)	I371L	possibly damaging	Het
Rc3h1	T	C	1: 160,782,543 (GRCm39)	V674A	probably benign	Het
Rps6ka4	T	C	19: 6,815,517 (GRCm39)	Y159C	probably damaging	Het
Sf3b6	T	C	12: 4,876,808 (GRCm39)	I67T	possibly damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spata17	T	C	1: 186,915,412 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,244 (GRCm39)	T217A	probably benign	Het
Tank	A	G	2: 61,480,442 (GRCm39)	D326G	possibly damaging	Het
Tbc1d9	T	A	8: 83,976,224 (GRCm39)	N594K	probably damaging	Het
Tfpi2	T	A	6: 3,965,507 (GRCm39)	T102S	probably benign	Het
Ulk4	T	G	9: 121,033,871 (GRCm39)	E589D	possibly damaging	Het
Usp40	A	T	1: 87,921,947 (GRCm39)	H305Q	probably damaging	Het
Vmn1r170	A	G	7: 23,305,754 (GRCm39)	K52R	probably benign	Het
Vmn1r194	A	G	13: 22,429,133 (GRCm39)	D250G	probably damaging	Het
Wdr6	A	T	9: 108,451,854 (GRCm39)	D676E	possibly damaging	Het
Xirp2	T	A	2: 67,341,179 (GRCm39)	V1140E	probably damaging	Het

Other mutations in Chl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7097:Chl1	UTSW	6	103,683,409 (GRCm39)	missense	probably damaging	1.00
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'- TCACGGATAGCAATAGGGCAACAC -3'
(R):5'- GGATTTTCCTTCAGAAACCAGCCAGAG -3'

Sequencing Primer
(F):5'- AAGTCACCCGTGTAGATTTGAGC -3'
(R):5'- AGAAGCCACAACTTGGGTG -3'

Posted On

2014-04-24