Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Pira13'

362862

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: 0.052) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

3819780-3828686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3825179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 488 (S488P)

Ref Sequence

ENSEMBL: ENSMUSP00000140974 (fasta)

Gene Model

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

AlphaFold

F6PZL4

Predicted Effect

probably benign
Transcript: ENSMUST00000094911

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419

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: S488P

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: S488P

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

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419

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: S488P

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: S488P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189095
AA Change: S488P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: S488P

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,972 (GRCm39)	S186R	possibly damaging	Het
Acap2	A	G	16: 30,915,163 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,599,506 (GRCm39)	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,944,946 (GRCm39)	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,224,735 (GRCm39)	S36R	probably benign	Het
Crispld1	A	G	1: 17,817,013 (GRCm39)	N190S	possibly damaging	Het
Crtam	A	G	9: 40,905,797 (GRCm39)	V44A	probably benign	Het
Crtc1	C	T	8: 70,858,775 (GRCm39)	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,657,790 (GRCm39)	N254S	probably benign	Het
Dmrta1	T	C	4: 89,577,011 (GRCm39)	S156P	probably benign	Het
Eno2	A	C	6: 124,743,172 (GRCm39)	V188G	probably damaging	Het
Fam20a	A	T	11: 109,565,953 (GRCm39)	I427N	probably damaging	Het
Fat2	T	C	11: 55,147,444 (GRCm39)	K3933E	probably benign	Het
Igkv8-30	T	C	6: 70,094,601 (GRCm39)	M1V	probably null	Het
Ist1	G	A	8: 110,410,300 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,661,690 (GRCm39)	E765G	possibly damaging	Het
Kat14	T	C	2: 144,235,449 (GRCm39)	L92S	probably damaging	Het
Kcnu1	G	A	8: 26,339,855 (GRCm39)	V58I	probably benign	Het
Lrba	T	A	3: 86,261,513 (GRCm39)	V1489E	probably damaging	Het
Lrba	T	A	3: 86,352,720 (GRCm39)	I1956N	probably damaging	Het
Mdn1	G	A	4: 32,763,199 (GRCm39)	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,563,670 (GRCm39)	G122*	probably null	Het
Nme3	T	C	17: 25,115,880 (GRCm39)	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,488,997 (GRCm39)	V56G	possibly damaging	Het
Pramel16	T	C	4: 143,676,418 (GRCm39)	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,238,644 (GRCm39)	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,895,430 (GRCm39)	V344A	probably damaging	Het
Selp	G	A	1: 163,957,671 (GRCm39)	A267T	probably benign	Het
Sf3a1	T	A	11: 4,129,192 (GRCm39)	W718R	probably damaging	Het
Taar9	T	C	10: 23,985,378 (GRCm39)	N19D	probably benign	Het
Tas2r113	T	G	6: 132,870,382 (GRCm39)	S137A	probably damaging	Het
Traf4	A	T	11: 78,052,447 (GRCm39)	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,129,849 (GRCm39)	T164S	probably benign	Het
Uggt1	A	T	1: 36,216,696 (GRCm39)	N96K	probably benign	Het
Uqcc1	T	A	2: 155,753,749 (GRCm39)	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,083,440 (GRCm39)	K48R	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
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
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

2015-12-18