Mutagenetix > Incidental Mutation

Incidental Mutation 'R2983:Pira13'

257120

Institutional Source

Beutler Lab

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: 0.052) question?

Stock #

R2983 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

3819780-3828686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3824574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 503 (S503T)

Ref Sequence

ENSEMBL: ENSMUSP00000092515 (fasta)

Gene Model

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

AlphaFold

F6PZL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094911
AA Change: S503T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: S503T

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

unknown
Transcript: ENSMUST00000108619
AA Change: S604T

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: S604T

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

possibly damaging
Transcript: ENSMUST00000108620
AA Change: S503T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: S503T

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

unknown
Transcript: ENSMUST00000153846
AA Change: S604T

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: S604T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189095
AA Change: S602T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: S602T

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,784 (GRCm39)	D347G	probably damaging	Het
Brwd1	T	C	16: 95,867,774 (GRCm39)	K124E	probably damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dlec1	T	C	9: 118,975,241 (GRCm39)	V1607A	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Flnb	T	A	14: 7,882,250 (GRCm38)	V317E	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Kmt2c	AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	5: 25,520,755 (GRCm39)		probably benign	Het
Ncs1	C	T	2: 31,174,708 (GRCm39)	T144I	probably damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or5k16	T	A	16: 58,736,930 (GRCm39)	T25S	probably benign	Het
Prkcd	G	A	14: 30,321,435 (GRCm39)	S552L	probably damaging	Het
Rad54l2	A	G	9: 106,577,789 (GRCm39)	V1044A	probably benign	Het
Rasal1	A	G	5: 120,792,927 (GRCm39)	H60R	probably benign	Het
Rccd1	G	A	7: 79,970,276 (GRCm39)	Q114*	probably null	Het
Speg	T	C	1: 75,361,574 (GRCm39)	V90A	possibly damaging	Het
St8sia1	A	G	6: 142,909,355 (GRCm39)	V47A	probably damaging	Het
Tex264	A	G	9: 106,559,296 (GRCm39)	I10T	unknown	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn1r81	G	A	7: 11,994,596 (GRCm39)	T4I	probably benign	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
IGL03140:Pira13	APN	7	3,826,247 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ATGAAGGGTCATTGCTGGTATC -3'
(R):5'- ACAGTGCACTCAGGAGAGAC -3'

Sequencing Primer
(F):5'- CCAGTTATTTGCTCAGGAATGTGCC -3'
(R):5'- CACTCAGGAGAGACCGTGAGC -3'

Posted On

2015-01-11