Mutagenetix > Incidental Mutation

Incidental Mutation 'R6302:Xkr4'

509253

Institutional Source

Beutler Lab

Gene Symbol

Xkr4

Ensembl Gene

ENSMUSG00000051951

Gene Name

X-linked Kx blood group related 4

Synonyms

MMRRC Submission

044467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3276124-3741721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3286961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 410 (T410A)

Ref Sequence

ENSEMBL: ENSMUSP00000070648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070533]

AlphaFold

Q5GH67

Predicted Effect

probably damaging
Transcript: ENSMUST00000070533
AA Change: T410A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: T410A

Domain	Start	End	E-Value	Type
low complexity region	49	99	N/A	INTRINSIC
Pfam:XK-related	111	513	2.6e-128	PFAM
low complexity region	573	586	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162897

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	T	4: 144,396,760 (GRCm39)	S324*	probably null	Het
Actl11	T	G	9: 107,806,772 (GRCm39)	V365G	probably benign	Het
Adgrg6	T	A	10: 14,317,227 (GRCm39)	D531V	probably benign	Het
Ankrd11	A	G	8: 123,616,728 (GRCm39)	S2354P	probably benign	Het
Ano9	A	T	7: 140,684,221 (GRCm39)	W514R	probably damaging	Het
Arfgef3	A	T	10: 18,528,589 (GRCm39)	V266E	probably damaging	Het
Bahcc1	T	C	11: 120,167,634 (GRCm39)	I1345T	probably damaging	Het
Bpifb4	G	A	2: 153,801,587 (GRCm39)	M355I	probably benign	Het
Catsperb	T	C	12: 101,554,402 (GRCm39)	S699P	possibly damaging	Het
Cdh23	T	G	10: 60,140,872 (GRCm39)	I3161L	possibly damaging	Het
Chd3	T	C	11: 69,244,604 (GRCm39)	T1257A	probably damaging	Het
Cnnm4	C	T	1: 36,539,036 (GRCm39)	T638I	probably benign	Het
Cspg4b	A	G	13: 113,504,646 (GRCm39)	D1925G	probably damaging	Het
Cyp26c1	A	G	19: 37,674,936 (GRCm39)	T86A	probably damaging	Het
Cyp3a63-ps	A	G	5: 145,564,847 (GRCm39)		noncoding transcript	Het
Dnah14	T	A	1: 181,428,771 (GRCm39)	I259N	possibly damaging	Het
Dnah17	T	C	11: 118,019,981 (GRCm39)	D22G	probably benign	Het
Epn2	T	G	11: 61,437,312 (GRCm39)	T87P	probably damaging	Het
Fbxl18	A	G	5: 142,874,578 (GRCm39)	L81P	probably damaging	Het
Gas1	A	T	13: 60,323,970 (GRCm39)	D221E	probably damaging	Het
Gm8356	T	C	14: 17,691,275 (GRCm39)	Y130C	probably damaging	Het
Gpr151	T	G	18: 42,712,459 (GRCm39)	K73T	probably damaging	Het
Helq	A	C	5: 100,946,305 (GRCm39)	V12G	probably damaging	Het
Inpp4b	A	G	8: 82,494,806 (GRCm39)	T74A	probably benign	Het
Kirrel3	G	A	9: 34,919,045 (GRCm39)	V234I	probably damaging	Het
Kxd1	T	A	8: 70,972,713 (GRCm39)		probably null	Het
Lif	T	C	11: 4,218,924 (GRCm39)	Y68H	probably damaging	Het
Map6	A	G	7: 98,985,314 (GRCm39)	Q406R	probably damaging	Het
Mcoln3	A	T	3: 145,830,527 (GRCm39)	M86L	probably benign	Het
Mei1	T	A	15: 81,987,439 (GRCm39)	Y834*	probably null	Het
Mroh1	T	C	15: 76,320,319 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,777,065 (GRCm39)	I2319T	possibly damaging	Het
Myo7b	T	G	18: 32,127,439 (GRCm39)	D621A	probably damaging	Het
Naip5	C	T	13: 100,359,674 (GRCm39)	A521T	possibly damaging	Het
Nek7	T	C	1: 138,426,351 (GRCm39)	D254G	probably damaging	Het
Nsd2	A	G	5: 34,024,921 (GRCm39)	R560G	possibly damaging	Het
Or2t46	T	C	11: 58,472,464 (GRCm39)	F265L	probably benign	Het
Or52x1	A	T	7: 104,852,926 (GRCm39)	L208H	probably damaging	Het
Pbx1	T	A	1: 168,018,910 (GRCm39)	T312S	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,610,097 (GRCm39)	S390G	probably damaging	Het
Plcxd3	C	T	15: 4,546,239 (GRCm39)	T81M	probably damaging	Het
Pmf1	C	T	3: 88,307,017 (GRCm39)		probably null	Het
Rabep1	T	C	11: 70,825,947 (GRCm39)	V739A	probably damaging	Het
Rex2	A	G	4: 147,142,451 (GRCm39)	D313G	possibly damaging	Het
Rpia	C	T	6: 70,750,485 (GRCm39)	V216I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec13	T	A	6: 113,712,167 (GRCm39)	H56L	probably damaging	Het
Sec16a	A	T	2: 26,315,817 (GRCm39)	V1733D	probably damaging	Het
Sim2	G	A	16: 93,898,089 (GRCm39)	A108T	probably damaging	Het
Slc27a5	T	C	7: 12,722,479 (GRCm39)	D665G	probably damaging	Het
Slc38a6	T	A	12: 73,383,849 (GRCm39)	V180E	probably damaging	Het
Smarcad1	T	G	6: 65,052,122 (GRCm39)	N38K	possibly damaging	Het
Spem2	T	C	11: 69,709,091 (GRCm39)	T45A	possibly damaging	Het
Svil	T	C	18: 5,057,432 (GRCm39)	S714P	probably benign	Het
Taar7b	T	A	10: 23,876,158 (GRCm39)	S108T	possibly damaging	Het
Tbl3	T	C	17: 24,923,645 (GRCm39)	K256E	probably benign	Het
Tcam1	T	G	11: 106,177,276 (GRCm39)	C423G	probably damaging	Het
Trpm4	A	T	7: 44,977,143 (GRCm39)		probably null	Het
Ttyh2	T	C	11: 114,592,662 (GRCm39)	C231R	probably damaging	Het
Ugt3a1	C	T	15: 9,365,397 (GRCm39)	P337S	probably damaging	Het
Vmn2r83	A	C	10: 79,304,837 (GRCm39)	T16P	possibly damaging	Het
Vps52	T	C	17: 34,182,189 (GRCm39)	F589S	probably damaging	Het
Xkr9	A	G	1: 13,742,726 (GRCm39)	T4A	probably damaging	Het
Yars2	T	C	16: 16,122,438 (GRCm39)	L268P	probably damaging	Het
Zbtb41	C	A	1: 139,357,027 (GRCm39)	N427K	possibly damaging	Het
Zeb2	T	C	2: 44,887,771 (GRCm39)	T414A	probably benign	Het

Other mutations in Xkr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03398:Xkr4	APN	1	3,286,798 (GRCm39)	missense	probably damaging	1.00
R0200:Xkr4	UTSW	1	3,740,886 (GRCm39)	missense	probably benign	0.00
R0829:Xkr4	UTSW	1	3,741,469 (GRCm39)	missense	possibly damaging	0.59
R0830:Xkr4	UTSW	1	3,740,968 (GRCm39)	missense	possibly damaging	0.48
R0959:Xkr4	UTSW	1	3,286,897 (GRCm39)	missense	probably damaging	1.00
R1242:Xkr4	UTSW	1	3,286,360 (GRCm39)	missense	probably damaging	1.00
R1257:Xkr4	UTSW	1	3,287,036 (GRCm39)	missense	probably benign	0.29
R2002:Xkr4	UTSW	1	3,741,318 (GRCm39)	missense	probably benign
R3896:Xkr4	UTSW	1	3,286,414 (GRCm39)	missense	probably damaging	0.99
R4006:Xkr4	UTSW	1	3,491,998 (GRCm39)	missense	probably benign	0.01
R4173:Xkr4	UTSW	1	3,286,711 (GRCm39)	missense	probably damaging	1.00
R4770:Xkr4	UTSW	1	3,286,714 (GRCm39)	missense	probably damaging	1.00
R4868:Xkr4	UTSW	1	3,287,074 (GRCm39)	missense	probably damaging	1.00
R5103:Xkr4	UTSW	1	3,740,911 (GRCm39)	missense	probably benign
R5548:Xkr4	UTSW	1	3,287,153 (GRCm39)	missense	probably damaging	1.00
R5602:Xkr4	UTSW	1	3,286,751 (GRCm39)	missense	probably benign	0.18
R5608:Xkr4	UTSW	1	3,741,603 (GRCm39)	start gained	probably benign
R5668:Xkr4	UTSW	1	3,741,258 (GRCm39)	missense	probably damaging	1.00
R5901:Xkr4	UTSW	1	3,286,901 (GRCm39)	missense	probably damaging	0.99
R6296:Xkr4	UTSW	1	3,286,793 (GRCm39)	missense	probably benign	0.01
R6326:Xkr4	UTSW	1	3,741,261 (GRCm39)	missense	possibly damaging	0.75
R6341:Xkr4	UTSW	1	3,741,001 (GRCm39)	missense	probably benign
R6911:Xkr4	UTSW	1	3,741,544 (GRCm39)	missense	possibly damaging	0.91
R7086:Xkr4	UTSW	1	3,287,185 (GRCm39)	missense	probably damaging	1.00
R7249:Xkr4	UTSW	1	3,287,033 (GRCm39)	missense	probably damaging	1.00
R7571:Xkr4	UTSW	1	3,740,911 (GRCm39)	missense	probably benign	0.00
R7881:Xkr4	UTSW	1	3,286,487 (GRCm39)	missense	probably damaging	1.00
R7952:Xkr4	UTSW	1	3,740,842 (GRCm39)	missense	possibly damaging	0.94
R8332:Xkr4	UTSW	1	3,492,122 (GRCm39)	missense	probably damaging	1.00
R9076:Xkr4	UTSW	1	3,286,358 (GRCm39)	nonsense	probably null
R9134:Xkr4	UTSW	1	3,740,860 (GRCm39)	missense	probably benign
R9618:Xkr4	UTSW	1	3,741,201 (GRCm39)	missense	probably damaging	1.00
R9663:Xkr4	UTSW	1	3,286,519 (GRCm39)	missense	probably benign	0.01
Z1176:Xkr4	UTSW	1	3,741,205 (GRCm39)	missense	probably damaging	1.00
Z1176:Xkr4	UTSW	1	3,741,204 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGATGGCAAATGCATCTG -3'
(R):5'- TCCTACCAGAAGGCTCTTCG -3'

Sequencing Primer
(F):5'- CTTTGTAGAGGTACCAGAGTGCACTC -3'
(R):5'- AGAAGGCTCTTCGGGACTC -3'

Posted On

2018-04-02