Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:Kir3dl1'

244119

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

MMRRC Submission

040265-MU

Accession Numbers

Essential gene?

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

Stock #

R2265 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

135418748-135435055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135425784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 53 (R53G)

Ref Sequence

ENSEMBL: ENSMUSP00000108729 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113104

SMART Domains

Protein: ENSMUSP00000108728
Gene: ENSMUSG00000031424

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

probably benign
Transcript: ENSMUST00000113105
AA Change: R53G

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

SMART Domains

Protein: ENSMUSP00000108729
Gene: ENSMUSG00000031424
AA Change: R53G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 12,042,328 (GRCm39)		probably null	Het
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Adam24	T	A	8: 41,133,110 (GRCm39)	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,205,791 (GRCm39)	S103P	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Alg11	T	A	8: 22,555,630 (GRCm39)	V255E	probably benign	Het
Aox1	C	A	1: 58,120,679 (GRCm39)	D857E	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,484 (GRCm39)	T242A	probably benign	Het
Cdca7	T	C	2: 72,312,834 (GRCm39)	L190P	probably benign	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,915 (GRCm39)	I126F	possibly damaging	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Cops3	T	C	11: 59,718,716 (GRCm39)	T193A	probably benign	Het
Dbr1	G	A	9: 99,461,463 (GRCm39)	V153M	probably damaging	Het
Ddx4	A	G	13: 112,757,810 (GRCm39)	Y290H	probably benign	Het
Dgkb	T	A	12: 38,240,107 (GRCm39)	S461R	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,919,857 (GRCm39)	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxo1	T	C	3: 52,253,333 (GRCm39)	S499P	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,452,962 (GRCm39)	I552S	probably benign	Het
Imp4	T	A	1: 34,482,928 (GRCm39)	I173N	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Kcnh6	G	A	11: 105,924,643 (GRCm39)	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnip3	G	T	2: 127,306,981 (GRCm39)	A173D	probably benign	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,367,633 (GRCm39)	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,124 (GRCm39)	N185D	probably benign	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,500,185 (GRCm39)	D937G	probably benign	Het
Myo18b	A	G	5: 112,930,539 (GRCm39)	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or2m12	A	G	16: 19,105,305 (GRCm39)	Y63H	probably damaging	Het
Or4f54	A	G	2: 111,123,524 (GRCm39)	T304A	probably benign	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or52n20	T	C	7: 104,320,067 (GRCm39)	F53L	probably benign	Het
Or8k28	T	C	2: 86,286,558 (GRCm39)	Y19C	possibly damaging	Het
Ovch2	A	T	7: 107,383,782 (GRCm39)	M521K	probably damaging	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,630,736 (GRCm39)	H177L	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,487,797 (GRCm39)	S230A	possibly damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Rad9b	T	C	5: 122,489,405 (GRCm39)	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,194 (GRCm39)	I286F	probably damaging	Het
Rtel1	T	A	2: 180,996,161 (GRCm39)	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,938,788 (GRCm39)	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,780,188 (GRCm39)	C109S	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,788,074 (GRCm39)	C833F	possibly damaging	Het
Vash2	T	C	1: 190,682,410 (GRCm39)	N347D	probably damaging	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Zfp616	T	C	11: 73,976,289 (GRCm39)	Y853H	possibly 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
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
R5741:Kir3dl1	UTSW	X	135,427,231 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACCTCTCCCATTAGAACAGGGATC -3'
(R):5'- CAGAGGCTCACTATGTGCTGAC -3'

Sequencing Primer
(F):5'- GAACAGGGATCGTTTAATTCACAG -3'
(R):5'- GAGGCTCACTATGTGCTGACAATAC -3'

Posted On

2014-10-16