Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02010:Xkr6'

183322

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xkr6

Ensembl Gene

ENSMUSG00000035067

Gene Name

X-linked Kx blood group related 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02010

Quality Score

Status

Chromosome

Chromosomal Location

63843952-64058258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64056653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 188 (T188M)

Ref Sequence

ENSEMBL: ENSMUSP00000112691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119973] [ENSMUST00000120820]

AlphaFold

E9Q6C8

Predicted Effect

probably benign
Transcript: ENSMUST00000119973
AA Change: T444M

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113708
Gene: ENSMUSG00000035067
AA Change: T444M

Domain	Start	End	E-Value	Type
low complexity region	25	51	N/A	INTRINSIC
Pfam:XK-related	127	498	1.1e-125	PFAM
low complexity region	627	638	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120820
AA Change: T188M

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112691
Gene: ENSMUSG00000035067
AA Change: T188M

Domain	Start	End	E-Value	Type
Pfam:XK-related	1	242	4.9e-105	PFAM
low complexity region	371	382	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,110,442 (GRCm39)	D569G	probably benign	Het
Abhd17b	C	T	19: 21,661,485 (GRCm39)	T224I	probably benign	Het
Atf6b	T	A	17: 34,873,626 (GRCm39)	S695R	probably benign	Het
Cdh6	A	C	15: 13,034,276 (GRCm39)		probably benign	Het
Cep290	G	T	10: 100,344,569 (GRCm39)	C462F	probably benign	Het
Cep290	T	C	10: 100,397,207 (GRCm39)	S2156P	probably benign	Het
Cfap20dc	A	T	14: 8,578,384 (GRCm38)	H119Q	possibly damaging	Het
Cit	T	C	5: 116,014,006 (GRCm39)	F240L	probably damaging	Het
Col1a2	T	A	6: 4,512,416 (GRCm39)		probably null	Het
Ctcf	T	A	8: 106,391,597 (GRCm39)	H297Q	probably damaging	Het
Dhx29	T	C	13: 113,103,168 (GRCm39)		probably null	Het
Dhx37	T	G	5: 125,495,777 (GRCm39)	T835P	possibly damaging	Het
Enc1	C	T	13: 97,381,588 (GRCm39)	L33F	possibly damaging	Het
Epyc	T	A	10: 97,485,563 (GRCm39)	M1K	probably null	Het
F10	T	C	8: 13,098,292 (GRCm39)	I165T	probably damaging	Het
Fam124a	T	C	14: 62,824,728 (GRCm39)	L74P	probably damaging	Het
Fam234b	A	G	6: 135,186,405 (GRCm39)	S138G	probably benign	Het
Fam81a	T	C	9: 70,006,419 (GRCm39)	K198E	probably benign	Het
Fbn2	T	C	18: 58,170,794 (GRCm39)	Y2199C	probably damaging	Het
Fign	A	C	2: 63,810,744 (GRCm39)	S175R	probably damaging	Het
Grik1	T	C	16: 87,848,396 (GRCm39)	N124S	possibly damaging	Het
Hdac9	G	T	12: 34,481,944 (GRCm39)	L175M	probably damaging	Het
Hephl1	A	C	9: 15,001,852 (GRCm39)	Y163*	probably null	Het
Hes1	G	A	16: 29,886,128 (GRCm39)	G244D	probably damaging	Het
Hexb	A	G	13: 97,313,353 (GRCm39)	L501P	probably benign	Het
Igkv5-43	T	C	6: 69,752,936 (GRCm39)	I49V	probably benign	Het
Ipo5	T	C	14: 121,170,789 (GRCm39)	S491P	probably benign	Het
Jakmip2	C	T	18: 43,692,158 (GRCm39)		probably null	Het
Lrfn5	A	G	12: 61,886,469 (GRCm39)	T86A	probably damaging	Het
Lrp1b	T	C	2: 41,358,954 (GRCm39)	T640A	probably damaging	Het
M6pr	G	T	6: 122,292,085 (GRCm39)	R139L	possibly damaging	Het
Myl9	A	T	2: 156,620,579 (GRCm39)	N39Y	probably damaging	Het
Nlrp3	A	G	11: 59,440,361 (GRCm39)	D646G	probably benign	Het
Nlrp5	A	T	7: 23,116,797 (GRCm39)	M174L	probably benign	Het
Nnmt	T	A	9: 48,503,331 (GRCm39)	I232F	probably damaging	Het
Nrg1	T	C	8: 32,408,171 (GRCm39)	T21A	probably benign	Het
Or5t15	C	T	2: 86,681,541 (GRCm39)	C167Y	possibly damaging	Het
Or6c65	A	G	10: 129,604,136 (GRCm39)	Y257C	probably benign	Het
Pcare	T	A	17: 72,056,459 (GRCm39)	T1073S	probably benign	Het
Pcdh7	T	G	5: 58,286,597 (GRCm39)	N1224K	probably benign	Het
Pde4a	T	C	9: 21,114,850 (GRCm39)		probably null	Het
Pfkfb3	T	C	2: 11,488,805 (GRCm39)	T320A	probably benign	Het
Plekhm2	T	C	4: 141,364,730 (GRCm39)		probably benign	Het
Rabgap1l	C	T	1: 160,299,641 (GRCm39)	R584H	probably damaging	Het
Rnf157	T	A	11: 116,287,052 (GRCm39)	N57I	probably damaging	Het
Rtf1	G	A	2: 119,531,747 (GRCm39)		probably null	Het
Sap130	C	A	18: 31,782,655 (GRCm39)	R189S	probably damaging	Het
Slc34a1	T	G	13: 24,003,025 (GRCm39)	V225G	probably benign	Het
Smg1	T	C	7: 117,785,369 (GRCm39)		probably benign	Het
Tecta	G	A	9: 42,248,489 (GRCm39)	T1971I	probably damaging	Het
Tlcd5	A	T	9: 43,022,859 (GRCm39)	V165E	probably damaging	Het
Tmem263	T	A	10: 84,950,274 (GRCm39)	S22T	probably benign	Het
Tnrc18	A	T	5: 142,773,049 (GRCm39)	F410L	unknown	Het
Ttc27	T	G	17: 75,087,906 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,668 (GRCm39)	C101S	probably damaging	Het
Wdr17	T	C	8: 55,112,738 (GRCm39)	K781E	probably damaging	Het

Other mutations in Xkr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Xkr6	APN	14	64,056,664 (GRCm39)	missense	probably damaging	0.96
IGL01419:Xkr6	APN	14	64,056,325 (GRCm39)	missense	probably benign	0.39
IGL01450:Xkr6	APN	14	64,035,664 (GRCm39)	missense	probably damaging	0.98
IGL02352:Xkr6	APN	14	64,057,156 (GRCm39)	missense	unknown
IGL02359:Xkr6	APN	14	64,057,156 (GRCm39)	missense	unknown
R0148:Xkr6	UTSW	14	64,056,998 (GRCm39)	missense	unknown
R0521:Xkr6	UTSW	14	64,056,871 (GRCm39)	missense	probably benign	0.28
R1555:Xkr6	UTSW	14	64,056,374 (GRCm39)	missense	unknown
R1619:Xkr6	UTSW	14	64,056,766 (GRCm39)	missense	probably benign	0.39
R1874:Xkr6	UTSW	14	64,035,745 (GRCm39)	missense	unknown
R2864:Xkr6	UTSW	14	64,057,205 (GRCm39)	missense	unknown
R2960:Xkr6	UTSW	14	63,844,586 (GRCm39)	missense	possibly damaging	0.71
R3014:Xkr6	UTSW	14	64,056,793 (GRCm39)	missense	unknown
R4888:Xkr6	UTSW	14	64,056,953 (GRCm39)	missense	unknown
R5019:Xkr6	UTSW	14	64,056,515 (GRCm39)	missense	unknown
R5193:Xkr6	UTSW	14	64,056,356 (GRCm39)	missense	possibly damaging	0.92
R5354:Xkr6	UTSW	14	64,056,353 (GRCm39)	missense	possibly damaging	0.48
R5485:Xkr6	UTSW	14	64,056,833 (GRCm39)	missense	unknown
R5825:Xkr6	UTSW	14	64,056,481 (GRCm39)	missense	probably benign	0.39
R5885:Xkr6	UTSW	14	63,844,360 (GRCm39)	missense	probably damaging	0.99
R6074:Xkr6	UTSW	14	63,844,519 (GRCm39)	missense	possibly damaging	0.67
R6861:Xkr6	UTSW	14	64,057,093 (GRCm39)	missense	probably benign	0.39
R7289:Xkr6	UTSW	14	64,035,748 (GRCm39)	missense	unknown
R7477:Xkr6	UTSW	14	63,844,129 (GRCm39)	missense	possibly damaging	0.84
R7525:Xkr6	UTSW	14	64,056,610 (GRCm39)	missense	probably benign	0.39
R7528:Xkr6	UTSW	14	64,056,610 (GRCm39)	missense	probably benign	0.39
R7529:Xkr6	UTSW	14	64,056,610 (GRCm39)	missense	probably benign	0.39
R7646:Xkr6	UTSW	14	63,844,423 (GRCm39)	missense	probably damaging	0.99
R7686:Xkr6	UTSW	14	63,844,295 (GRCm39)	missense	possibly damaging	0.96
R7697:Xkr6	UTSW	14	63,844,628 (GRCm39)	missense	probably damaging	0.99
R8331:Xkr6	UTSW	14	64,056,392 (GRCm39)	missense	unknown
R8702:Xkr6	UTSW	14	64,057,103 (GRCm39)	missense	unknown
R9169:Xkr6	UTSW	14	63,844,067 (GRCm39)	missense	possibly damaging	0.83
Z1176:Xkr6	UTSW	14	63,844,394 (GRCm39)	missense	probably benign	0.08

Posted On

2014-05-07