Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Lyar'

344808

Institutional Source

Beutler Lab

Gene Symbol

Lyar

Ensembl Gene

ENSMUSG00000067367

Gene Name

Ly1 antibody reactive clone

Synonyms

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38377815-38391650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38382053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 12 (S12T)

Ref Sequence

ENSEMBL: ENSMUSP00000122153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087514] [ENSMUST00000094833] [ENSMUST00000114106] [ENSMUST00000114113] [ENSMUST00000123106] [ENSMUST00000123207] [ENSMUST00000126267] [ENSMUST00000146401] [ENSMUST00000155300] [ENSMUST00000130721] [ENSMUST00000154975] [ENSMUST00000152066] [ENSMUST00000132190] [ENSMUST00000202506] [ENSMUST00000136475] [ENSMUST00000138820] [ENSMUST00000143436]

AlphaFold

Q08288

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087514
AA Change: S12T

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084791
Gene: ENSMUSG00000067367
AA Change: S12T

Domain	Start	End	E-Value	Type
Pfam:zf-LYAR	31	58	1.7e-18	PFAM
low complexity region	138	152	N/A	INTRINSIC
coiled coil region	174	216	N/A	INTRINSIC
low complexity region	225	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094833

SMART Domains

Protein: ENSMUSP00000092429
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART
ZnF_C2H2	414	436	6.99e-5	SMART
ZnF_C2H2	442	464	2.24e-3	SMART
ZnF_C2H2	470	492	1.26e-2	SMART
ZnF_C2H2	498	520	5.14e-3	SMART
ZnF_C2H2	526	548	2.27e-4	SMART
ZnF_C2H2	554	576	3.39e-3	SMART
low complexity region	597	614	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114106
AA Change: S12T

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109741
Gene: ENSMUSG00000067367
AA Change: S12T

Domain	Start	End	E-Value	Type
Pfam:zf-LYAR	31	58	4.3e-18	PFAM
low complexity region	138	152	N/A	INTRINSIC
coiled coil region	174	216	N/A	INTRINSIC
low complexity region	225	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114113

SMART Domains

Protein: ENSMUSP00000109748
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART
low complexity region	413	430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123106

SMART Domains

Protein: ENSMUSP00000144200
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
Pfam:BTB	12	51	1.6e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123207
AA Change: S12T

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121204
Gene: ENSMUSG00000067367
AA Change: S12T

Domain	Start	End	E-Value	Type
Pfam:zf-LYAR	31	58	8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126267

SMART Domains

Protein: ENSMUSP00000122109
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131492

Predicted Effect

probably benign
Transcript: ENSMUST00000146401
AA Change: S12T

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000155300
AA Change: S12T

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122486
Gene: ENSMUSG00000067367
AA Change: S12T

Domain	Start	End	E-Value	Type
Pfam:zf-LYAR	31	58	1.3e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130721
AA Change: S12T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122153
Gene: ENSMUSG00000067367
AA Change: S12T

Domain	Start	End	E-Value	Type
Pfam:zf-LYAR	31	58	2.4e-17	PFAM
low complexity region	138	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154975
AA Change: S12T

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000152066
AA Change: S12T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000132190
AA Change: S12T

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121320
Gene: ENSMUSG00000067367
AA Change: S12T

Domain	Start	End	E-Value	Type
Pfam:zf-LYAR	31	58	2.4e-17	PFAM
low complexity region	138	152	N/A	INTRINSIC
low complexity region	180	191	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137577

Predicted Effect

probably benign
Transcript: ENSMUST00000136475

SMART Domains

Protein: ENSMUSP00000117174
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138820

SMART Domains

Protein: ENSMUSP00000117913
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
Pfam:BTB	13	63	4.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143436

SMART Domains

Protein: ENSMUSP00000115513
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
Pfam:BTB	15	75	1.5e-11	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	probably damaging	Het

Other mutations in Lyar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Lyar	APN	5	38,385,391 (GRCm39)	splice site	probably null
IGL01472:Lyar	APN	5	38,382,066 (GRCm39)	missense	possibly damaging	0.72
IGL02603:Lyar	APN	5	38,391,405 (GRCm39)	missense	probably damaging	0.99
veerie	UTSW	5	38,385,202 (GRCm39)	missense	probably benign	0.05
R1980:Lyar	UTSW	5	38,382,053 (GRCm39)	missense	probably damaging	1.00
R2518:Lyar	UTSW	5	38,385,276 (GRCm39)	missense	probably benign	0.23
R4798:Lyar	UTSW	5	38,385,230 (GRCm39)	missense	possibly damaging	0.93
R4799:Lyar	UTSW	5	38,382,123 (GRCm39)	missense	probably damaging	1.00
R5973:Lyar	UTSW	5	38,385,290 (GRCm39)	missense	probably damaging	1.00
R5991:Lyar	UTSW	5	38,385,209 (GRCm39)	missense	probably damaging	0.98
R6045:Lyar	UTSW	5	38,391,352 (GRCm39)	missense	probably benign	0.21
R6284:Lyar	UTSW	5	38,383,339 (GRCm39)	missense	probably damaging	1.00
R6548:Lyar	UTSW	5	38,385,202 (GRCm39)	missense	probably benign	0.05
R6551:Lyar	UTSW	5	38,390,616 (GRCm39)	missense	probably damaging	1.00
R7051:Lyar	UTSW	5	38,382,024 (GRCm39)	missense	probably damaging	1.00
R7664:Lyar	UTSW	5	38,388,161 (GRCm39)	missense	probably benign	0.02
R7909:Lyar	UTSW	5	38,382,072 (GRCm39)	missense	probably damaging	1.00
R7938:Lyar	UTSW	5	38,388,295 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCACGCTGAGAACTTGGCTG -3'
(R):5'- CAACCTACTCAGTGTCTGCC -3'

Sequencing Primer
(F):5'- CTTCTCGGAGATCACTGGTAAAC -3'
(R):5'- ACTCAGTGTCTGCCTTCATTTTG -3'

Posted On

2015-09-25