Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03140:Pira13'

410663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pira13

Ensembl Gene

ENSMUSG00000074419

Gene Name

paired-Ig-like receptor A13

Synonyms

Gm15448, ENSMUSG00000074419

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03140

Quality Score

Status

Chromosome

Chromosomal Location

3819780-3828686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3826247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 249 (N249D)

Ref Sequence

ENSEMBL: ENSMUSP00000092515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]

AlphaFold

F6PZL4

Predicted Effect

probably benign
Transcript: ENSMUST00000094911
AA Change: N249D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: N249D

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108619
AA Change: N249D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: N249D

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG_like	429	517	6.02e0	SMART
IG	529	618	8.01e-3	SMART
low complexity region	637	646	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108620
AA Change: N249D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: N249D

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART
low complexity region	538	547	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153846
AA Change: N249D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: N249D

Domain	Start	End	E-Value	Type
IG	7	96	8.01e-3	SMART
low complexity region	132	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189095
AA Change: N249D

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

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: N249D

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG_like	40	105	1.3e-2	SMART
IG	129	315	5.7e-4	SMART
IG_like	237	302	9e-4	SMART
IG	328	415	2.6e-3	SMART
IG_like	429	517	2.4e-2	SMART
IG	529	618	3.3e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,982,576 (GRCm39)		probably benign	Het
Cd48	T	C	1: 171,523,451 (GRCm39)	V98A	probably damaging	Het
Chd9	A	T	8: 91,768,856 (GRCm39)	R2485S	possibly damaging	Het
Clec4a2	T	C	6: 123,117,735 (GRCm39)		probably benign	Het
Ddx21	A	G	10: 62,429,850 (GRCm39)	L298S	probably damaging	Het
Efl1	A	G	7: 82,342,089 (GRCm39)	E499G	probably benign	Het
Fry	A	G	5: 150,419,166 (GRCm39)	N2870S	probably damaging	Het
Ints8	G	A	4: 11,235,565 (GRCm39)	P355S	probably damaging	Het
Kmo	T	A	1: 175,476,786 (GRCm39)	V200D	probably damaging	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Mus81	T	C	19: 5,533,984 (GRCm39)	T416A	probably damaging	Het
Nlrp6	T	C	7: 140,507,400 (GRCm39)	S889P	probably benign	Het
Nlrp9c	T	A	7: 26,079,914 (GRCm39)	D704V	probably benign	Het
Olfml2a	A	G	2: 38,837,303 (GRCm39)	K149E	probably damaging	Het
Ovgp1	A	G	3: 105,887,222 (GRCm39)	D206G	probably damaging	Het
Pcdhb3	T	G	18: 37,434,272 (GRCm39)	H79Q	probably benign	Het
Rnf19b	T	A	4: 128,977,889 (GRCm39)	V701D	probably benign	Het
Setd2	T	C	9: 110,444,020 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,800,533 (GRCm39)	Y952C	probably damaging	Het
Vmn1r205	T	C	13: 22,776,746 (GRCm39)	I119V	possibly damaging	Het
Zfhx4	T	G	3: 5,307,585 (GRCm39)	D270E	probably damaging	Het

Other mutations in Pira13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Pira13	APN	7	3,826,088 (GRCm39)	missense	probably damaging	1.00
IGL01675:Pira13	APN	7	3,825,607 (GRCm39)	splice site	probably benign
IGL02040:Pira13	APN	7	3,824,516 (GRCm39)	splice site	probably benign
IGL02547:Pira13	APN	7	3,824,660 (GRCm39)	missense	probably damaging	0.98
IGL02749:Pira13	APN	7	3,825,624 (GRCm39)	missense	probably damaging	1.00
IGL02822:Pira13	APN	7	3,819,917 (GRCm39)	missense	possibly damaging	0.50
IGL02883:Pira13	APN	7	3,825,179 (GRCm39)	missense	possibly damaging	0.95
IGL03185:Pira13	APN	7	3,826,229 (GRCm39)	missense	probably damaging	1.00
IGL03212:Pira13	APN	7	3,826,132 (GRCm39)	missense	probably benign	0.00
R0347:Pira13	UTSW	7	3,825,873 (GRCm39)	missense	probably damaging	1.00
R0652:Pira13	UTSW	7	3,825,762 (GRCm39)	missense	probably benign	0.02
R0668:Pira13	UTSW	7	3,825,699 (GRCm39)	missense	probably damaging	0.99
R0724:Pira13	UTSW	7	3,819,871 (GRCm39)	missense	possibly damaging	0.83
R0735:Pira13	UTSW	7	3,824,781 (GRCm39)	missense	possibly damaging	0.79
R1074:Pira13	UTSW	7	3,826,069 (GRCm39)	missense	probably damaging	1.00
R1339:Pira13	UTSW	7	3,825,155 (GRCm39)	missense	probably damaging	1.00
R1541:Pira13	UTSW	7	3,819,988 (GRCm39)	missense	probably damaging	1.00
R1570:Pira13	UTSW	7	3,826,060 (GRCm39)	missense	probably benign	0.45
R1880:Pira13	UTSW	7	3,827,950 (GRCm39)	critical splice donor site	probably null
R1892:Pira13	UTSW	7	3,827,573 (GRCm39)	missense	probably benign	0.15
R1909:Pira13	UTSW	7	3,825,918 (GRCm39)	missense	probably benign	0.31
R2881:Pira13	UTSW	7	3,828,640 (GRCm39)	start codon destroyed	probably null	0.98
R2967:Pira13	UTSW	7	3,825,686 (GRCm39)	missense	probably damaging	1.00
R2983:Pira13	UTSW	7	3,824,574 (GRCm39)	missense	probably damaging	1.00
R4213:Pira13	UTSW	7	3,824,553 (GRCm39)	missense	probably damaging	1.00
R4319:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4320:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4321:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4322:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4323:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4536:Pira13	UTSW	7	3,825,251 (GRCm39)	missense	probably benign	0.00
R4597:Pira13	UTSW	7	3,825,154 (GRCm39)	missense	possibly damaging	0.81
R4713:Pira13	UTSW	7	3,825,680 (GRCm39)	nonsense	probably null
R4725:Pira13	UTSW	7	3,824,547 (GRCm39)	missense	probably benign
R4934:Pira13	UTSW	7	3,825,676 (GRCm39)	missense	probably damaging	1.00
R4971:Pira13	UTSW	7	3,825,805 (GRCm39)	missense	probably benign	0.00
R5138:Pira13	UTSW	7	3,827,556 (GRCm39)	nonsense	probably null
R5805:Pira13	UTSW	7	3,825,622 (GRCm39)	missense	probably benign	0.15
R5824:Pira13	UTSW	7	3,827,753 (GRCm39)	missense	probably damaging	1.00
R5841:Pira13	UTSW	7	3,825,898 (GRCm39)	nonsense	probably null
R6027:Pira13	UTSW	7	3,827,638 (GRCm39)	missense	possibly damaging	0.94
R6214:Pira13	UTSW	7	3,824,717 (GRCm39)	missense	probably damaging	0.99
R6329:Pira13	UTSW	7	3,825,850 (GRCm39)	missense	probably damaging	1.00
R6429:Pira13	UTSW	7	3,825,345 (GRCm39)	missense	possibly damaging	0.63
R6650:Pira13	UTSW	7	3,819,898 (GRCm39)	missense	possibly damaging	0.83
R6681:Pira13	UTSW	7	3,825,251 (GRCm39)	missense	probably benign	0.00
R6961:Pira13	UTSW	7	3,828,124 (GRCm39)	missense	probably damaging	1.00
R6989:Pira13	UTSW	7	3,825,163 (GRCm39)	missense	possibly damaging	0.95
R7025:Pira13	UTSW	7	3,824,261 (GRCm39)	nonsense	probably null
R7071:Pira13	UTSW	7	3,824,667 (GRCm39)	missense	unknown
R7194:Pira13	UTSW	7	3,827,792 (GRCm39)	missense
R7215:Pira13	UTSW	7	3,825,310 (GRCm39)	missense	unknown
R7580:Pira13	UTSW	7	3,827,611 (GRCm39)	missense	unknown
R7776:Pira13	UTSW	7	3,826,246 (GRCm39)	missense	unknown
R7863:Pira13	UTSW	7	3,827,801 (GRCm39)	critical splice acceptor site	probably null
R7909:Pira13	UTSW	7	3,824,708 (GRCm39)	missense	unknown
R8131:Pira13	UTSW	7	3,825,161 (GRCm39)	nonsense	probably null
R8178:Pira13	UTSW	7	3,824,260 (GRCm39)	missense	unknown
R8188:Pira13	UTSW	7	3,826,126 (GRCm39)	missense	unknown
R8220:Pira13	UTSW	7	3,825,903 (GRCm39)	missense	unknown
R8226:Pira13	UTSW	7	3,828,109 (GRCm39)	missense
R8441:Pira13	UTSW	7	3,826,301 (GRCm39)	nonsense	probably null
R8739:Pira13	UTSW	7	3,828,188 (GRCm39)	missense
R8785:Pira13	UTSW	7	3,819,928 (GRCm39)	missense	unknown
R8912:Pira13	UTSW	7	3,825,818 (GRCm39)	missense	unknown
R8941:Pira13	UTSW	7	3,825,380 (GRCm39)	missense	probably damaging	1.00
R8990:Pira13	UTSW	7	3,824,273 (GRCm39)	missense	unknown
R9049:Pira13	UTSW	7	3,819,890 (GRCm39)	missense	unknown
R9090:Pira13	UTSW	7	3,819,997 (GRCm39)	missense	unknown
R9134:Pira13	UTSW	7	3,825,182 (GRCm39)	missense
R9136:Pira13	UTSW	7	3,826,285 (GRCm39)	missense
R9244:Pira13	UTSW	7	3,825,226 (GRCm39)	missense	unknown
R9271:Pira13	UTSW	7	3,819,997 (GRCm39)	missense	unknown
R9328:Pira13	UTSW	7	3,827,580 (GRCm39)	missense	unknown

Posted On

2016-08-02