Mutagenetix > Incidental Mutation

Incidental Mutation 'R7313:Lingo4'

567715

Institutional Source

Beutler Lab

Gene Symbol

Lingo4

Ensembl Gene

ENSMUSG00000044505

Gene Name

leucine rich repeat and Ig domain containing 4

Synonyms

Lrrn6d, LERN4, A530050P17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94398517-94404501 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94403144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 463 (D463V)

Ref Sequence

ENSEMBL: ENSMUSP00000058050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050975] [ENSMUST00000197040]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050975
AA Change: D463V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058050
Gene: ENSMUSG00000044505
AA Change: D463V

Domain	Start	End	E-Value	Type
LRRNT	55	89	1.23e-4	SMART
LRR	88	107	2.76e2	SMART
LRR_TYP	108	131	1.02e-6	SMART
LRR_TYP	132	155	7.26e-3	SMART
LRR	156	179	1.33e1	SMART
LRR_TYP	180	203	5.42e-2	SMART
LRR	204	227	4.45e1	SMART
LRR	228	251	3.27e1	SMART
LRR	300	323	4.83e0	SMART
LRR	324	347	3.07e-1	SMART
LRR	348	371	3.36e1	SMART
LRRCT	383	436	5.24e-5	SMART
IGc2	451	516	3.53e-13	SMART
transmembrane domain	560	582	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197040

SMART Domains

Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150

Domain	Start	End	E-Value	Type
ZnF_C4	7	78	7.2e-37	SMART
low complexity region	95	112	N/A	INTRINSIC
HOLI	299	453	3.78e-22	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,723,187	N805S	probably damaging	Het
Acat2	A	G	17: 12,960,006	V60A	probably benign	Het
Adam6b	A	G	12: 113,491,134	I524V	probably benign	Het
Adamts16	C	T	13: 70,772,955	W590*	probably null	Het
Adamts9	C	T	6: 92,858,121	G1257D	probably damaging	Het
Adgrf5	C	T	17: 43,445,083	T644I	probably benign	Het
Adgrf5	T	G	17: 43,452,477		probably null	Het
Adgrv1	T	C	13: 81,520,515	T2641A	possibly damaging	Het
Agap3	T	C	5: 24,452,384	F60L	probably benign	Het
Akap9	C	A	5: 4,004,933	T1626K	probably damaging	Het
Ampd3	C	A	7: 110,806,054	D603E	probably damaging	Het
Angpt4	T	A	2: 151,925,406	V119E	probably benign	Het
Atp6v1a	T	C	16: 44,114,617	T70A	probably benign	Het
B4galt3	T	A	1: 171,272,749	I163N	probably damaging	Het
Borcs5	C	T	6: 134,710,180	T167M	probably damaging	Het
Btbd19	T	A	4: 117,121,419	S156C	probably damaging	Het
Camkk2	C	T	5: 122,737,511	R492Q	possibly damaging	Het
Casr	T	C	16: 36,509,671	I434V	probably damaging	Het
Cd4	G	T	6: 124,867,103	T394K	probably benign	Het
Cps1	T	C	1: 67,198,358	L1006P	probably damaging	Het
Crx	G	A	7: 15,867,932	P274S	probably damaging	Het
Crybg1	T	A	10: 43,989,111	I1457F	probably damaging	Het
Cul4a	C	A	8: 13,121,676		probably benign	Het
D430041D05Rik	T	A	2: 104,255,565	T196S	probably benign	Het
Dnah3	T	C	7: 119,981,344	E1995G	probably benign	Het
Dnm1	T	A	2: 32,336,009	T353S	probably damaging	Het
E430018J23Rik	C	T	7: 127,391,684	S377N	probably benign	Het
Ect2l	T	A	10: 18,168,401	T329S	probably damaging	Het
Elp2	T	A	18: 24,609,659	S83T	probably benign	Het
Exosc7	A	G	9: 123,118,948	T39A	probably benign	Het
Fam135a	C	A	1: 24,057,392	V91F	probably damaging	Het
Gab2	G	T	7: 97,081,798		probably benign	Het
Gbf1	A	T	19: 46,280,354	I1408F	possibly damaging	Het
Glis3	C	T	19: 28,531,019	E522K	probably damaging	Het
Gm10375	A	T	14: 43,604,857	C139S	possibly damaging	Het
Gm26558	T	C	2: 70,661,867	E81G	unknown	Het
Gm35315	C	T	5: 110,079,225	C116Y	probably benign	Het
Gm3676	T	A	14: 41,644,107	I84F	probably damaging	Het
Gm7145	T	A	1: 117,986,202	H271Q	probably damaging	Het
Gpat2	T	A	2: 127,428,295	I76N	probably damaging	Het
Hipk1	A	T	3: 103,778,258	S14T	unknown	Het
Hlcs	C	A	16: 94,267,503	S286I	probably damaging	Het
Ighg1	A	T	12: 113,329,458	F204Y		Het
Igsf10	T	C	3: 59,329,416	I1115V	probably benign	Het
Klk7	A	T	7: 43,812,875	H97L	probably damaging	Het
Kmt2d	A	T	15: 98,856,623	D1605E	unknown	Het
Leng8	T	A	7: 4,139,526	I49N	possibly damaging	Het
Lrp1	T	A	10: 127,553,468	N3193I	probably damaging	Het
Lrrc7	T	A	3: 158,160,474	Y1210F	probably damaging	Het
Mki67	G	C	7: 135,694,671	A2878G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mucl2	C	T	15: 103,899,179		probably null	Het
Myh6	A	T	14: 54,960,270	D470E	probably benign	Het
Myo1e	T	C	9: 70,359,385		probably null	Het
Myo7a	G	A	7: 98,064,195	R1647W	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nmral1	C	T	16: 4,713,796	M198I	probably benign	Het
Nrap	C	A	19: 56,342,268	L1120F	probably damaging	Het
Nup155	T	A	15: 8,154,922	I1267N	probably damaging	Het
Obscn	G	A	11: 59,007,588	P6616S	unknown	Het
Ocstamp	T	G	2: 165,397,309	D319A	probably damaging	Het
Olfr384	A	T	11: 73,602,984	I135F	probably damaging	Het
Olfr600	A	G	7: 103,346,331	V199A	probably benign	Het
Olfr787	T	C	10: 129,462,987	S104P	probably damaging	Het
Olfr796	A	G	10: 129,608,080	S134P	probably benign	Het
Olfr855	A	G	9: 19,584,642	Y35C	probably damaging	Het
Ooep	T	C	9: 78,378,151	D61G	probably damaging	Het
Otoa	A	G	7: 121,102,542	E148G	probably benign	Het
Ovgp1	A	T	3: 105,987,071	D720V	unknown	Het
Padi2	T	A	4: 140,932,768	F294I	probably damaging	Het
Pcdha7	T	A	18: 36,974,418	N165K	probably damaging	Het
Pcdhb6	C	A	18: 37,335,208	P394H	probably damaging	Het
Pcdhga6	T	C	18: 37,708,019	V264A	possibly damaging	Het
Pik3ap1	G	T	19: 41,296,376	D623E	possibly damaging	Het
Prdm10	A	T	9: 31,357,160	K802*	probably null	Het
Ptgfrn	G	A	3: 101,073,047	L326F	possibly damaging	Het
Rgsl1	T	G	1: 153,807,876		probably null	Het
Rock1	T	G	18: 10,129,317	T347P	possibly damaging	Het
Rprd2	G	A	3: 95,776,710	P338S	probably damaging	Het
Sdk1	A	T	5: 141,937,622	N333Y	probably damaging	Het
Setd4	T	A	16: 93,591,244	H118L	probably benign	Het
Sirt3	G	A	7: 140,878,126	P37S		Het
Slc16a9	G	T	10: 70,283,170	G440W	probably damaging	Het
Slc22a23	T	A	13: 34,183,178	I616F	probably damaging	Het
Slc30a8	A	C	15: 52,317,311	D102A	probably damaging	Het
Slc6a4	T	A	11: 77,010,701	D87E	possibly damaging	Het
Slc9a4	A	C	1: 40,629,503	T769P	probably benign	Het
Soga3	T	A	10: 29,196,879	Y722*	probably null	Het
Sspo	A	T	6: 48,454,828	Y685F	probably damaging	Het
Sspo	C	A	6: 48,473,456	Q2560K	probably benign	Het
Stpg1	T	A	4: 135,529,516	L206Q	probably damaging	Het
Stt3b	A	T	9: 115,266,115	Y283N	probably damaging	Het
Sult4a1	T	C	15: 84,086,613	E197G	probably damaging	Het
Syne1	T	G	10: 5,047,635	D444A	probably damaging	Het
Tex15	T	A	8: 33,574,817	V1425E	possibly damaging	Het
Tgm4	A	G	9: 123,062,491	D557G	probably benign	Het
Tmcc3	A	G	10: 94,430,572		probably benign	Het
Tnfrsf8	T	A	4: 145,274,382	N385Y	probably benign	Het
Ttc4	T	C	4: 106,678,820	D15G	possibly damaging	Het
Tut1	A	G	19: 8,964,049	N400S	probably benign	Het
Usp39	T	C	6: 72,336,430	K259R	probably benign	Het
Vmn1r215	C	T	13: 23,076,314	H175Y	probably benign	Het
Vmn1r36	A	T	6: 66,716,123	M256K	probably benign	Het
Zfp128	T	A	7: 12,890,534	H276Q	possibly damaging	Het
Zfp276	T	C	8: 123,267,823	M543T	probably damaging	Het
Zfp354c	A	T	11: 50,814,656	Y531N	probably damaging	Het
Zfp532	T	A	18: 65,623,005	M3K	probably damaging	Het
Zfp64	T	G	2: 168,899,890	K373Q	probably damaging	Het
Zfp983	T	G	17: 21,661,497	S114A	probably damaging	Het
Zranb1	G	A	7: 132,982,752	R583K	probably damaging	Het

Other mutations in Lingo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Lingo4	APN	3	94403288	missense	probably benign	0.00
IGL02662:Lingo4	APN	3	94401817	unclassified	probably benign
IGL02687:Lingo4	APN	3	94402097	missense	probably damaging	1.00
IGL02711:Lingo4	APN	3	94403393	missense	probably benign
IGL03001:Lingo4	APN	3	94402396	missense	probably damaging	1.00
IGL03260:Lingo4	APN	3	94401943	missense	probably benign
PIT4449001:Lingo4	UTSW	3	94401932	missense	probably benign
R0088:Lingo4	UTSW	3	94402033	missense	probably benign	0.39
R0616:Lingo4	UTSW	3	94403081	missense	probably benign	0.00
R1455:Lingo4	UTSW	3	94399392	unclassified	probably benign
R1733:Lingo4	UTSW	3	94403178	missense	probably benign	0.00
R2001:Lingo4	UTSW	3	94403075	missense	probably damaging	1.00
R2085:Lingo4	UTSW	3	94402245	missense	probably damaging	1.00
R3793:Lingo4	UTSW	3	94402378	missense	probably benign
R3805:Lingo4	UTSW	3	94402100	missense	probably damaging	1.00
R3806:Lingo4	UTSW	3	94402100	missense	probably damaging	1.00
R4438:Lingo4	UTSW	3	94402897	missense	possibly damaging	0.79
R4660:Lingo4	UTSW	3	94403365	missense	probably benign	0.00
R4724:Lingo4	UTSW	3	94402876	nonsense	probably null
R4981:Lingo4	UTSW	3	94399454	missense	probably benign	0.18
R4994:Lingo4	UTSW	3	94402541	missense	probably benign
R4994:Lingo4	UTSW	3	94403001	missense	probably benign	0.02
R5600:Lingo4	UTSW	3	94401913	missense	probably benign
R6188:Lingo4	UTSW	3	94402850	missense	probably damaging	1.00
R6267:Lingo4	UTSW	3	94403390	missense	probably benign	0.02
R6303:Lingo4	UTSW	3	94403206	missense	probably damaging	1.00
R6304:Lingo4	UTSW	3	94403206	missense	probably damaging	1.00
R6789:Lingo4	UTSW	3	94399355	unclassified	probably benign
R7329:Lingo4	UTSW	3	94402855	missense	probably benign
R7631:Lingo4	UTSW	3	94399460	missense	possibly damaging	0.93
R7908:Lingo4	UTSW	3	94402234	missense	probably benign	0.19
R8277:Lingo4	UTSW	3	94402624	missense	possibly damaging	0.61
R8848:Lingo4	UTSW	3	94403533	missense	probably benign
R9257:Lingo4	UTSW	3	94403369	missense	probably benign	0.05
R9753:Lingo4	UTSW	3	94402186	nonsense	probably null
X0054:Lingo4	UTSW	3	94403376	missense	possibly damaging	0.54
Z1177:Lingo4	UTSW	3	94402994	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAACTGGTCACCCTGAGG -3'
(R):5'- AGTCATTCCCAGCGACATTAC -3'

Sequencing Primer
(F):5'- GGTAACCCCCTAACCTGTGATTG -3'
(R):5'- TTCCCAGCGACATTACTGACTAC -3'

Posted On

2019-06-26