Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00907:Kir3dl1'

29572

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00907

Quality Score

Status

Chromosome

Chromosomal Location

135418748-135435055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135425911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 95 (C95Y)

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 damaging
Transcript: ENSMUST00000113105
AA Change: C95Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108729
Gene: ENSMUSG00000031424
AA Change: C95Y

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	A	G	10: 4,454,051 (GRCm38)	F379V	possibly damaging	Het
Atp8b1	T	C	18: 64,694,776 (GRCm39)	D502G	possibly damaging	Het
Brwd3	A	G	X: 107,827,852 (GRCm39)		probably benign	Het
Ccdc171	T	A	4: 83,782,486 (GRCm39)	H1259Q	probably damaging	Het
Chd7	T	C	4: 8,840,435 (GRCm39)	I1401T	probably damaging	Het
Csf1	T	C	3: 107,657,662 (GRCm39)	N76S	probably damaging	Het
Dld	A	G	12: 31,382,329 (GRCm39)		probably benign	Het
Eif5	T	A	12: 111,506,989 (GRCm39)	I141N	probably damaging	Het
Etl4	G	A	2: 20,771,289 (GRCm39)	G674D	possibly damaging	Het
Fam234a	G	A	17: 26,432,500 (GRCm39)	R550W	probably damaging	Het
Hipk2	A	G	6: 38,795,208 (GRCm39)	S347P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hsd17b2	A	T	8: 118,461,433 (GRCm39)	I157L	probably benign	Het
Ibtk	A	G	9: 85,572,384 (GRCm39)	S1269P	possibly damaging	Het
Igsf3	T	C	3: 101,334,764 (GRCm39)		probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Lamc2	A	G	1: 153,020,397 (GRCm39)	V383A	probably benign	Het
Mael	A	G	1: 166,032,418 (GRCm39)	Y314H	probably damaging	Het
Npat	T	C	9: 53,474,590 (GRCm39)	V794A	possibly damaging	Het
Nr4a2	T	A	2: 56,999,229 (GRCm39)	I340F	probably damaging	Het
Or4c103	A	G	2: 88,513,638 (GRCm39)	V146A	probably benign	Het
Or5p56	A	T	7: 107,590,097 (GRCm39)	D175V	probably damaging	Het
Or7g21	T	A	9: 19,032,528 (GRCm39)	D89E	possibly damaging	Het
Pdcd11	T	C	19: 47,096,003 (GRCm39)	V641A	probably benign	Het
Phf24	C	T	4: 42,938,667 (GRCm39)	T264I	probably benign	Het
Sars2	G	T	7: 28,452,848 (GRCm39)		probably benign	Het
Scn1a	A	C	2: 66,158,141 (GRCm39)	S411A	probably damaging	Het
Srsf5	T	C	12: 80,994,608 (GRCm39)	V112A	probably damaging	Het
Susd2	T	C	10: 75,476,765 (GRCm39)	N206S	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Ttc32	T	A	12: 9,084,953 (GRCm39)	Y58N	probably damaging	Het

Other mutations in Kir3dl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5741:Kir3dl1	UTSW	X	135,427,231 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-04-17