Mutagenetix > Incidental Mutation

Incidental Mutation 'R5741:Kir3dl1'

444821

Institutional Source

Beutler Lab

Gene Symbol

Kir3dl1

Ensembl Gene

ENSMUSG00000031424

Gene Name

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1

Synonyms

Kirl1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5741 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

135418748-135435055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135427231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 56 (D56N)

Ref Sequence

ENSEMBL: ENSMUSP00000108728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113104] [ENSMUST00000113105] [ENSMUST00000113108]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113104
AA Change: D56N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108728
Gene: ENSMUSG00000031424
AA Change: D56N

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	34	125	1.03e0	SMART
IG_like	137	222	1.28e2	SMART
low complexity region	245	260	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113105
AA Change: D149N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108729
Gene: ENSMUSG00000031424
AA Change: D149N

Domain	Start	End	E-Value	Type
IG	34	116	7.7e-5	SMART
IG	127	218	1.03e0	SMART
IG_like	230	315	1.28e2	SMART
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113108

SMART Domains

Protein: ENSMUSP00000108732
Gene: ENSMUSG00000057439

Domain	Start	End	E-Value	Type
IG	34	116	1.25e-4	SMART
IG	127	218	4.04e0	SMART
IG_like	230	315	1.06e2	SMART
transmembrane domain	338	360	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	G	11: 106,919,315 (GRCm39)	F220C	probably damaging	Het
Acox3	C	T	5: 35,765,668 (GRCm39)	H140Y	probably benign	Het
Ano3	A	T	2: 110,488,618 (GRCm39)	I938K	probably benign	Het
Ap3m1	A	C	14: 21,095,788 (GRCm39)	I14S	possibly damaging	Het
Arg1	T	C	10: 24,793,897 (GRCm39)	T127A	probably benign	Het
Asah2	A	G	19: 31,986,015 (GRCm39)	Y552H	probably damaging	Het
Cfap97d2	A	T	8: 13,784,835 (GRCm39)	Q32L	possibly damaging	Het
Chst12	A	G	5: 140,509,688 (GRCm39)	N105S	probably benign	Het
Cped1	G	A	6: 22,123,620 (GRCm39)	V458I	probably benign	Het
Cyld	T	G	8: 89,471,474 (GRCm39)	I786S	probably damaging	Het
Cyp2j8	C	T	4: 96,332,880 (GRCm39)	V489I	probably benign	Het
Dlgap4	T	C	2: 156,552,968 (GRCm39)	Y462H	probably damaging	Het
Dnah5	C	A	15: 28,246,513 (GRCm39)	A617D	probably benign	Het
Erc2	T	A	14: 28,024,826 (GRCm39)		probably null	Het
Fancm	A	G	12: 65,148,389 (GRCm39)	N668S	probably benign	Het
Gm5592	A	G	7: 40,938,625 (GRCm39)	I636V	probably benign	Het
Gtf2h2	A	T	13: 100,617,066 (GRCm39)	C247S	probably benign	Het
Hyal5	T	A	6: 24,876,494 (GRCm39)	H122Q	probably damaging	Het
Ints10	G	A	8: 69,257,574 (GRCm39)	R258K	probably damaging	Het
Lrguk	T	A	6: 34,025,802 (GRCm39)	D199E	probably damaging	Het
Lyst	A	G	13: 13,808,615 (GRCm39)	D95G	probably benign	Het
Map2k1	A	T	9: 64,121,883 (GRCm39)	L30Q	possibly damaging	Het
Nell1	G	A	7: 50,210,638 (GRCm39)		probably null	Het
Nfatc3	T	A	8: 106,805,698 (GRCm39)	I181N	probably damaging	Het
Nipbl	T	C	15: 8,354,133 (GRCm39)	K1668R	possibly damaging	Het
Or5b113	A	G	19: 13,342,847 (GRCm39)	N285S	probably damaging	Het
Or7e170	A	G	9: 19,794,857 (GRCm39)	V248A	possibly damaging	Het
Or8d2	T	A	9: 38,759,899 (GRCm39)	L163*	probably null	Het
Otud7b	C	T	3: 96,051,615 (GRCm39)	T189I	probably damaging	Het
Pkia	A	T	3: 7,507,105 (GRCm39)	E62D	probably benign	Het
Plcb3	G	A	19: 6,931,790 (GRCm39)	Q1154*	probably null	Het
Pole4	T	C	6: 82,628,447 (GRCm39)	E105G	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,882 (GRCm39)	V344A	probably damaging	Het
Ptpn21	A	T	12: 98,645,548 (GRCm39)	L1130Q	probably damaging	Het
Rapgef5	A	G	12: 117,719,764 (GRCm39)	D564G	probably damaging	Het
Samhd1	C	T	2: 156,954,751 (GRCm39)	R387H	probably benign	Het
Spag1	A	G	15: 36,183,849 (GRCm39)	K65E	possibly damaging	Het
Spata31d1d	A	T	13: 59,876,500 (GRCm39)	V345D	possibly damaging	Het
Spin1	G	A	13: 51,303,171 (GRCm39)	V255I	possibly damaging	Het
Tmem171	A	G	13: 98,828,559 (GRCm39)	V197A	probably benign	Het
Tmigd1	T	C	11: 76,797,916 (GRCm39)	V86A	possibly damaging	Het
Ttn	T	C	2: 76,542,417 (GRCm39)	D31777G	probably damaging	Het
Tymp	T	A	15: 89,260,639 (GRCm39)	M60L	probably benign	Het
Ugdh	T	C	5: 65,584,866 (GRCm39)	T19A	probably damaging	Het
Vmn1r234	G	T	17: 21,449,731 (GRCm39)	C215F	probably benign	Het
Wnt5b	T	C	6: 119,410,690 (GRCm39)	D250G	probably damaging	Het
Xrn1	T	A	9: 95,927,604 (GRCm39)	C1463S	probably benign	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het
Zmynd8	T	C	2: 165,681,937 (GRCm39)	D189G	probably damaging	Het

Other mutations in Kir3dl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Kir3dl1	APN	X	135,425,911 (GRCm39)	missense	probably damaging	1.00
IGL01137:Kir3dl1	APN	X	135,427,360 (GRCm39)	missense	probably damaging	1.00
R0626:Kir3dl1	UTSW	X	135,434,594 (GRCm39)	splice site	probably null
R2265:Kir3dl1	UTSW	X	135,425,784 (GRCm39)	missense	probably benign
R2268:Kir3dl1	UTSW	X	135,425,784 (GRCm39)	missense	probably benign
R5725:Kir3dl1	UTSW	X	135,427,231 (GRCm39)	missense	probably damaging	0.96
R5739:Kir3dl1	UTSW	X	135,427,231 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACACAGGGTCAATGACAGG -3'
(R):5'- GATGTCAATGGGGTCACTGGAG -3'

Sequencing Primer
(F):5'- CACAGGGTCAATGACAGGGAAAAC -3'
(R):5'- CACTGGAGTCTGACCATTCATAGG -3'

Posted On

2016-11-21