Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Xkr5'

259852

Institutional Source

Beutler Lab

Gene Symbol

Xkr5

Ensembl Gene

ENSMUSG00000039814

Gene Name

X-linked Kx blood group related 5

Synonyms

5430438H03Rik

MMRRC Submission

040708-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18982745-19000991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18984474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 190 (E190G)

Ref Sequence

ENSEMBL: ENSMUSP00000061748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055503] [ENSMUST00000095438] [ENSMUST00000143913] [ENSMUST00000152974]

AlphaFold

Q5GH66

Predicted Effect

probably benign
Transcript: ENSMUST00000055503
AA Change: E190G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: E190G

Domain	Start	End	E-Value	Type
Pfam:XK-related	1	155	1.4e-46	PFAM
low complexity region	240	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095438
AA Change: E356G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: E356G

Domain	Start	End	E-Value	Type
Pfam:XK-related	5	321	1.6e-87	PFAM
low complexity region	406	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143913

SMART Domains

Protein: ENSMUSP00000121958
Gene: ENSMUSG00000039814

Domain	Start	End	E-Value	Type
Pfam:XK-related	2	109	2.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144987

Predicted Effect

probably benign
Transcript: ENSMUST00000152974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157795

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	probably benign	Het

Other mutations in Xkr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Xkr5	APN	8	18,983,514 (GRCm39)	missense	probably damaging	1.00
IGL02153:Xkr5	APN	8	18,983,683 (GRCm39)	missense	probably benign	0.09
IGL02637:Xkr5	APN	8	18,984,099 (GRCm39)	missense	probably benign	0.00
IGL02968:Xkr5	APN	8	18,983,641 (GRCm39)	missense	probably benign	0.13
IGL02983:Xkr5	APN	8	18,983,848 (GRCm39)	missense	probably benign	0.00
IGL03222:Xkr5	APN	8	18,987,315 (GRCm39)	missense	probably damaging	0.98
PIT4431001:Xkr5	UTSW	8	18,984,361 (GRCm39)	missense	possibly damaging	0.67
R0336:Xkr5	UTSW	8	18,990,652 (GRCm39)	missense	possibly damaging	0.93
R0638:Xkr5	UTSW	8	18,983,563 (GRCm39)	missense	probably benign	0.00
R1644:Xkr5	UTSW	8	18,984,141 (GRCm39)	missense	probably benign	0.03
R1703:Xkr5	UTSW	8	18,989,134 (GRCm39)	missense	probably benign	0.15
R1777:Xkr5	UTSW	8	18,989,148 (GRCm39)	missense	probably benign	0.33
R1972:Xkr5	UTSW	8	18,991,997 (GRCm39)	missense	probably damaging	1.00
R4274:Xkr5	UTSW	8	18,984,183 (GRCm39)	missense	probably benign	0.00
R4603:Xkr5	UTSW	8	18,983,733 (GRCm39)	missense	possibly damaging	0.70
R4742:Xkr5	UTSW	8	18,998,746 (GRCm39)	makesense	probably null
R5019:Xkr5	UTSW	8	18,992,126 (GRCm39)	missense	probably benign	0.00
R5103:Xkr5	UTSW	8	18,983,659 (GRCm39)	missense	probably benign	0.00
R5331:Xkr5	UTSW	8	18,983,484 (GRCm39)	utr 3 prime	probably benign
R5649:Xkr5	UTSW	8	18,983,982 (GRCm39)	missense	probably benign	0.00
R5883:Xkr5	UTSW	8	18,990,806 (GRCm39)	missense	probably damaging	1.00
R6005:Xkr5	UTSW	8	18,984,521 (GRCm39)	missense	probably benign	0.00
R6393:Xkr5	UTSW	8	18,998,716 (GRCm39)	missense	probably damaging	1.00
R6615:Xkr5	UTSW	8	18,983,569 (GRCm39)	missense	probably benign	0.05
R7488:Xkr5	UTSW	8	18,983,608 (GRCm39)	nonsense	probably null
R8011:Xkr5	UTSW	8	18,998,736 (GRCm39)	nonsense	probably null
R8678:Xkr5	UTSW	8	18,984,048 (GRCm39)	missense	probably benign	0.01
R8928:Xkr5	UTSW	8	18,983,787 (GRCm39)	missense	probably benign	0.01
R9572:Xkr5	UTSW	8	18,984,166 (GRCm39)	missense	probably benign	0.41
R9579:Xkr5	UTSW	8	18,983,785 (GRCm39)	missense	probably benign	0.02
R9622:Xkr5	UTSW	8	18,984,247 (GRCm39)	missense	probably benign	0.02
R9762:Xkr5	UTSW	8	18,990,749 (GRCm39)	missense	probably benign	0.00
Z1177:Xkr5	UTSW	8	18,990,801 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCGAGTTTCAGCAACAGC -3'
(R):5'- GTAGCCACTGAACCTGTCACTC -3'

Sequencing Primer
(F):5'- TTTCAGCAACAGCCAGTGG -3'
(R):5'- GGTGTCCCGGAACATAACTCTATG -3'

Posted On

2015-01-23