Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02585:Lrrc19'

299518

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc19

Ensembl Gene

ENSMUSG00000049799

Gene Name

leucine rich repeat containing 19

Synonyms

9130022A01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02585

Quality Score

Status

Chromosome

Chromosomal Location

94524890-94538381 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94531562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 17 (S17T)

Ref Sequence

ENSEMBL: ENSMUSP00000102718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030311] [ENSMUST00000053419] [ENSMUST00000107101] [ENSMUST00000107104]

AlphaFold

Q8BZT5

Predicted Effect

probably benign
Transcript: ENSMUST00000030311

SMART Domains

Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
coiled coil region	98	271	N/A	INTRINSIC
coiled coil region	302	382	N/A	INTRINSIC
coiled coil region	430	490	N/A	INTRINSIC
coiled coil region	512	546	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053419
AA Change: S17T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799
AA Change: S17T

Domain	Start	End	E-Value	Type
LRR	69	93	3.36e2	SMART
LRR	94	117	4.32e0	SMART
LRR	118	141	1.71e1	SMART
LRR	142	166	1.09e2	SMART
LRRCT	174	225	1.24e-6	SMART
Pfam:LRR19-TM	250	364	8.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107101
AA Change: S17T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799
AA Change: S17T

Domain	Start	End	E-Value	Type
LRR	69	93	3.36e2	SMART
LRR	94	117	4.32e0	SMART
LRR	118	141	1.71e1	SMART
LRR	142	166	1.09e2	SMART
LRRCT	174	225	1.24e-6	SMART
Pfam:LRR19-TM	245	364	9.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107104

SMART Domains

Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
coiled coil region	98	271	N/A	INTRINSIC
coiled coil region	302	352	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,592,121 (GRCm39)	I603T	possibly damaging	Het
Aebp1	A	G	11: 5,820,855 (GRCm39)		probably null	Het
Atp5me	T	C	5: 108,581,936 (GRCm39)	Y16C	probably damaging	Het
Ccdc122	A	T	14: 77,330,202 (GRCm39)		probably benign	Het
Ccdc83	C	T	7: 89,886,120 (GRCm39)	R213Q	probably damaging	Het
Cd38	G	A	5: 44,067,644 (GRCm39)	V292M	probably damaging	Het
Eps8l1	T	C	7: 4,472,212 (GRCm39)	S26P	probably damaging	Het
Gdpd1	A	T	11: 86,964,802 (GRCm39)	M1K	probably null	Het
Inmt	T	A	6: 55,150,431 (GRCm39)	I69F	probably damaging	Het
Macf1	G	T	4: 123,366,077 (GRCm39)	Q1330K	probably benign	Het
Map4k3	C	A	17: 80,961,348 (GRCm39)		probably benign	Het
Musk	A	G	4: 58,347,849 (GRCm39)	T329A	probably benign	Het
Nhs	T	C	X: 160,624,760 (GRCm39)	E863G	probably damaging	Het
Nts	T	A	10: 102,318,329 (GRCm39)	I125F	probably benign	Het
Odr4	T	A	1: 150,239,272 (GRCm39)	T384S	probably damaging	Het
Phip	G	A	9: 82,785,241 (GRCm39)	L825F	probably benign	Het
Prr14l	T	C	5: 32,986,828 (GRCm39)	H889R	possibly damaging	Het
Rbm15b	T	C	9: 106,763,025 (GRCm39)	Q381R	probably benign	Het
Rtn1	C	A	12: 72,354,929 (GRCm39)		probably null	Het
Ryr3	A	G	2: 112,542,648 (GRCm39)	L3167P	probably damaging	Het
Scfd1	G	A	12: 51,433,890 (GRCm39)	E61K	probably damaging	Het
Sgce	A	G	6: 4,711,388 (GRCm39)		probably benign	Het
Slc17a6	T	A	7: 51,275,097 (GRCm39)	V52E	probably benign	Het
Slc38a11	T	C	2: 65,166,135 (GRCm39)	D212G	probably benign	Het
Snx14	T	C	9: 88,286,571 (GRCm39)	K356R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssc4d	A	G	5: 135,999,192 (GRCm39)	S4P	possibly damaging	Het
Tas2r119	A	G	15: 32,177,679 (GRCm39)	T82A	probably benign	Het
Ush2a	A	T	1: 188,460,530 (GRCm39)	Q2597L	probably benign	Het
Uspl1	C	T	5: 149,150,872 (GRCm39)	Q691*	probably null	Het
Ythdf3	T	C	3: 16,243,642 (GRCm39)	V17A	probably benign	Het
Zscan29	T	A	2: 120,994,357 (GRCm39)	R543*	probably null	Het

Other mutations in Lrrc19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01640:Lrrc19	APN	4	94,526,745 (GRCm39)	missense	probably damaging	0.99
R0087:Lrrc19	UTSW	4	94,529,009 (GRCm39)	missense	probably damaging	1.00
R0629:Lrrc19	UTSW	4	94,526,489 (GRCm39)	missense	probably damaging	1.00
R1172:Lrrc19	UTSW	4	94,526,626 (GRCm39)	nonsense	probably null
R1572:Lrrc19	UTSW	4	94,526,666 (GRCm39)	missense	probably damaging	1.00
R1576:Lrrc19	UTSW	4	94,527,590 (GRCm39)	missense	probably damaging	1.00
R1589:Lrrc19	UTSW	4	94,529,187 (GRCm39)	missense	probably benign	0.24
R2107:Lrrc19	UTSW	4	94,527,531 (GRCm39)	missense	probably benign
R4734:Lrrc19	UTSW	4	94,526,586 (GRCm39)	missense	probably benign	0.01
R4932:Lrrc19	UTSW	4	94,529,174 (GRCm39)	missense	probably damaging	1.00
R6079:Lrrc19	UTSW	4	94,531,580 (GRCm39)	missense	probably benign	0.17
R6969:Lrrc19	UTSW	4	94,527,610 (GRCm39)	missense	probably benign	0.44
R7293:Lrrc19	UTSW	4	94,526,627 (GRCm39)	missense	probably benign	0.07
R7596:Lrrc19	UTSW	4	94,531,592 (GRCm39)	missense	probably benign
R7914:Lrrc19	UTSW	4	94,526,537 (GRCm39)	missense	probably damaging	0.97
R8333:Lrrc19	UTSW	4	94,527,587 (GRCm39)	missense	probably benign	0.03
R9468:Lrrc19	UTSW	4	94,526,521 (GRCm39)	missense	probably benign	0.03
R9484:Lrrc19	UTSW	4	94,531,573 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16