Mutagenetix > Incidental Mutation

Incidental Mutation 'R6214:Pira13'

503615

Institutional Source

Beutler Lab

Gene Symbol

Pira13

Ensembl Gene

ENSMUSG00000074419

Gene Name

paired-Ig-like receptor A13

Synonyms

Gm15448, ENSMUSG00000074419

MMRRC Submission

044347-MU

Accession Numbers

Essential gene?

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

Stock #

R6214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3819780-3828686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3824717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 554 (I554T)

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
AA Change: I455T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: I455T

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: I556T

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: I556T

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: I455T

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: I455T

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: I556T

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: I556T

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: I554T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: I554T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	A	C	4: 135,968,736 (GRCm39)	D727A	possibly damaging	Het
Aste1	A	G	9: 105,274,056 (GRCm39)	K38E	probably damaging	Het
Atp13a5	T	C	16: 29,070,159 (GRCm39)	Y909C	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cd79b	C	A	11: 106,203,267 (GRCm39)		probably null	Het
Chia1	T	C	3: 106,029,761 (GRCm39)	F132L	probably damaging	Het
Cntrl	A	G	2: 35,019,646 (GRCm39)	E491G	probably benign	Het
Ctdnep1	T	C	11: 69,880,334 (GRCm39)	F206L	probably damaging	Het
Dido1	T	C	2: 180,303,945 (GRCm39)	K1320E	probably damaging	Het
Dmbt1	G	T	7: 130,668,463 (GRCm39)	C573F	possibly damaging	Het
Dmtn	A	G	14: 70,850,776 (GRCm39)	I205T	probably benign	Het
Eif4g3	C	T	4: 137,785,314 (GRCm39)	H137Y	probably damaging	Het
Flg2	G	T	3: 93,109,166 (GRCm39)	C398F	possibly damaging	Het
Gabbr1	A	G	17: 37,380,257 (GRCm39)	D604G	probably damaging	Het
Glis2	T	A	16: 4,428,197 (GRCm39)	L83*	probably null	Het
Glra3	A	G	8: 56,444,291 (GRCm39)		probably null	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Lrrc9	A	T	12: 72,506,627 (GRCm39)	E301D	probably damaging	Het
Ms4a6c	T	C	19: 11,448,500 (GRCm39)	I11T	possibly damaging	Het
Myo1d	A	T	11: 80,670,617 (GRCm39)	M1K	probably null	Het
Nav3	A	G	10: 109,688,426 (GRCm39)	L617P	probably damaging	Het
Or8b3b	A	G	9: 38,584,510 (GRCm39)	S90P	probably benign	Het
Pcsk7	A	C	9: 45,821,674 (GRCm39)	N156T	possibly damaging	Het
Pde4d	C	T	13: 110,085,967 (GRCm39)	S515L	probably damaging	Het
Prom2	A	G	2: 127,381,695 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Scn3a	T	C	2: 65,325,380 (GRCm39)	I1046V	probably benign	Het
Slc13a1	A	T	6: 24,090,795 (GRCm39)	Y541*	probably null	Het
Speer1d	C	T	5: 11,307,197 (GRCm39)	T25I	probably damaging	Het
Spen	C	T	4: 141,206,423 (GRCm39)	E735K	unknown	Het
Tm6sf2	T	C	8: 70,525,724 (GRCm39)	V27A	possibly damaging	Het
Trim21	A	G	7: 102,208,646 (GRCm39)	S358P	probably damaging	Het
Ttc21a	A	G	9: 119,795,838 (GRCm39)	Y1224C	probably damaging	Het
Ttn	T	A	2: 76,710,552 (GRCm39)		probably benign	Het
Vmn2r99	A	G	17: 19,602,820 (GRCm39)	Q525R	probably benign	Het
Vsig10	G	A	5: 117,481,989 (GRCm39)	C393Y	probably damaging	Het
Ywhag	A	G	5: 135,939,928 (GRCm39)	I222T	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
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
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'- TCACCTCACCTGAGACTGTGAG -3'
(R):5'- ACAGAGACCCAGGTTCTCAG -3'

Sequencing Primer
(F):5'- ACCTGAGACTGTGAGCTCCAC -3'
(R):5'- CCAGGTTCTCAGGGTGGAGTC -3'

Posted On

2018-02-27