Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:Xkr9'

658569

Institutional Source

Beutler Lab

Gene Symbol

Xkr9

Ensembl Gene

ENSMUSG00000067813

Gene Name

X-linked Kx blood group related 9

Synonyms

LOC381246

MMRRC Submission

067947-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13738995-13771947 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13771603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 373 (D373G)

Ref Sequence

ENSEMBL: ENSMUSP00000085900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088542]

AlphaFold

Q5GH62

Predicted Effect

probably benign
Transcript: ENSMUST00000088542
AA Change: D373G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: D373G

Domain	Start	End	E-Value	Type
Pfam:XK-related	9	346	2.8e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,423 (GRCm39)	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,644,968 (GRCm39)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,735,346 (GRCm39)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,879,532 (GRCm39)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,502,041 (GRCm39)	V191A	probably benign	Het
Ankrd52	T	C	10: 128,225,359 (GRCm39)	L911P	probably damaging	Het
C5ar1	A	G	7: 15,982,076 (GRCm39)	S315P	probably damaging	Het
Cubn	A	G	2: 13,313,331 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,941,277 (GRCm39)	S276P	probably benign	Het
Dnah14	T	A	1: 181,481,203 (GRCm39)	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,712,508 (GRCm39)	G171R	probably damaging	Het
Dusp13b	C	A	14: 21,793,538 (GRCm39)	G208*	probably null	Het
Ebf3	A	C	7: 136,802,853 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,171,270 (GRCm39)		probably null	Het
Fbxo27	A	G	7: 28,392,767 (GRCm39)	D16G	probably benign	Het
G6pc3	A	G	11: 102,083,934 (GRCm39)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,121,513 (GRCm39)	V995I	probably null	Het
Hmcn2	C	A	2: 31,244,726 (GRCm39)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,144,499 (GRCm39)	L62P	probably damaging	Het
Ints7	T	C	1: 191,314,603 (GRCm39)	S63P	probably damaging	Het
Lyset	T	A	12: 102,710,431 (GRCm39)		probably null	Het
Mcf2l	C	A	8: 12,930,089 (GRCm39)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,590,586 (GRCm39)	I109S	probably benign	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,490,734 (GRCm39)		probably null	Het
Nanog	A	T	6: 122,690,475 (GRCm39)	L268F	possibly damaging	Het
Or12j5	T	A	7: 140,084,315 (GRCm39)	D19V	probably benign	Het
Or14a259	A	T	7: 86,013,471 (GRCm39)	C25S	probably benign	Het
Otud4	T	A	8: 80,385,896 (GRCm39)	N256K	probably damaging	Het
P2rx1	A	T	11: 72,899,779 (GRCm39)	D128V	probably benign	Het
Pappa	G	A	4: 65,254,001 (GRCm39)	V1552I	probably benign	Het
Pax8	A	T	2: 24,333,034 (GRCm39)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,412,204 (GRCm39)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,169 (GRCm39)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,947,911 (GRCm39)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,450,910 (GRCm39)	N217K	probably benign	Het
Slc2a13	T	A	15: 91,457,105 (GRCm39)	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,526,506 (GRCm39)	M9T	probably benign	Het
Sord	G	A	2: 122,087,423 (GRCm39)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,890,792 (GRCm39)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,849,157 (GRCm39)	D956E	probably benign	Het
Topbp1	T	A	9: 103,186,176 (GRCm39)		probably null	Het
Tst	T	C	15: 78,289,453 (GRCm39)	E194G	probably damaging	Het
Ttk	T	A	9: 83,739,380 (GRCm39)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,384,607 (GRCm39)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,388,714 (GRCm39)	A500T	probably benign	Het
Utrn	A	T	10: 12,545,930 (GRCm39)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,718,615 (GRCm39)	Q656L	probably damaging	Het
Wdr7	A	G	18: 64,120,231 (GRCm39)	N1424S	probably benign	Het
Zfp984	T	A	4: 147,840,668 (GRCm39)	Y61F	probably benign	Het

Other mutations in Xkr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01990:Xkr9	APN	1	13,771,203 (GRCm39)	missense	probably benign	0.00
IGL02090:Xkr9	APN	1	13,771,600 (GRCm39)	missense	probably damaging	1.00
IGL02405:Xkr9	APN	1	13,742,997 (GRCm39)	splice site	probably benign
IGL02523:Xkr9	APN	1	13,754,474 (GRCm39)	missense	probably benign	0.01
IGL02792:Xkr9	APN	1	13,771,027 (GRCm39)	missense	probably damaging	1.00
IGL02820:Xkr9	APN	1	13,771,173 (GRCm39)	missense	probably benign
IGL02821:Xkr9	APN	1	13,742,799 (GRCm39)	missense	probably damaging	1.00
IGL03170:Xkr9	APN	1	13,771,036 (GRCm39)	missense	possibly damaging	0.72
IGL03222:Xkr9	APN	1	13,771,505 (GRCm39)	nonsense	probably null
R0044:Xkr9	UTSW	1	13,754,286 (GRCm39)	nonsense	probably null
R0044:Xkr9	UTSW	1	13,754,286 (GRCm39)	nonsense	probably null
R0595:Xkr9	UTSW	1	13,771,008 (GRCm39)	missense	probably benign	0.02
R1337:Xkr9	UTSW	1	13,771,348 (GRCm39)	missense	possibly damaging	0.94
R1670:Xkr9	UTSW	1	13,771,167 (GRCm39)	missense	probably damaging	0.97
R5007:Xkr9	UTSW	1	13,771,387 (GRCm39)	missense	probably damaging	0.98
R6133:Xkr9	UTSW	1	13,754,359 (GRCm39)	missense	probably benign	0.01
R6302:Xkr9	UTSW	1	13,742,726 (GRCm39)	missense	probably damaging	1.00
R8153:Xkr9	UTSW	1	13,754,363 (GRCm39)	missense	probably benign	0.10
R8440:Xkr9	UTSW	1	13,771,603 (GRCm39)	missense	probably benign	0.31
R8823:Xkr9	UTSW	1	13,742,832 (GRCm39)	missense	probably benign	0.43
R8985:Xkr9	UTSW	1	13,770,990 (GRCm39)	missense	probably benign
R9084:Xkr9	UTSW	1	13,742,733 (GRCm39)	missense	probably benign	0.15
R9441:Xkr9	UTSW	1	13,771,587 (GRCm39)	missense	possibly damaging	0.94
R9658:Xkr9	UTSW	1	13,771,318 (GRCm39)	missense	probably damaging	1.00
X0025:Xkr9	UTSW	1	13,742,858 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- AATCTTGACTGTATTCTGGATCTACCC -3'
(R):5'- AGACTTTTGGAACCAGCGAG -3'

Sequencing Primer
(F):5'- ACTGTATTCTGGATCTACCCTCTTTC -3'
(R):5'- TTACATAGCATGTGCAGGCC -3'

Posted On

2021-01-18