Mutagenetix > Incidental Mutation

Incidental Mutation 'R7952:Xkr4'

649592

Institutional Source

Beutler Lab

Gene Symbol

Xkr4

Ensembl Gene

ENSMUSG00000051951

Gene Name

X-linked Kx blood group related 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3205901-3671498 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3670619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 244 (S244P)

Ref Sequence

ENSEMBL: ENSMUSP00000070648 (fasta)

Gene Model

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

AlphaFold

Q5GH67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070533
AA Change: S244P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: S244P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,752,338	S516P	possibly damaging	Het
Adora1	A	G	1: 134,203,286	S216P	possibly damaging	Het
Arhgap17	G	T	7: 123,286,691	S739R	probably benign	Het
Bphl	A	G	13: 34,046,797	T75A	probably benign	Het
Ccdc73	G	A	2: 104,945,456		probably null	Het
Cela3b	T	C	4: 137,421,908	I262V	probably benign	Het
Chpf	T	C	1: 75,478,942	N55S	probably benign	Het
Chst8	A	G	7: 34,675,494	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 104,330,571	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,097,004		probably benign	Het
Cxadr	C	T	16: 78,334,235	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,748,661		probably null	Het
Dhx32	T	C	7: 133,748,996	Y115C	probably benign	Het
Dopey2	C	A	16: 93,749,960	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802	V1732A	possibly damaging	Het
Egf	C	T	3: 129,739,996	R65Q	probably damaging	Het
Fat4	T	G	3: 38,891,721	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,322,637	V588A	probably damaging	Het
Galnt3	C	T	2: 66,097,842	E237K	probably benign	Het
Gm7682	T	C	5: 94,447,043	V254A	probably benign	Het
Grik2	T	C	10: 49,422,537	I363V	probably benign	Het
Grik3	C	T	4: 125,704,547	T769I	probably damaging	Het
Hpd	A	T	5: 123,178,264	D141E	possibly damaging	Het
Hrc	A	T	7: 45,336,268	D281V	probably damaging	Het
Igfn1	A	T	1: 135,963,955	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,098,370	I502V	probably benign	Het
Kcnh8	A	T	17: 52,959,465	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,850,768	G2892R	unknown	Het
Lama4	T	G	10: 39,030,490	I284S	probably benign	Het
Madd	C	A	2: 91,162,541	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,951,211	F1421L	probably damaging	Het
Nadk	G	T	4: 155,577,067	D17Y	probably benign	Het
Nedd9	C	A	13: 41,316,955	D241Y	probably damaging	Het
Notch2	T	C	3: 98,100,236	V434A	probably benign	Het
Ofcc1	C	T	13: 40,280,305	R108Q	probably benign	Het
Olfr118	T	C	17: 37,672,817	Y265H	probably damaging	Het
Olfr578	A	G	7: 102,984,514	F217L	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prss55	A	G	14: 64,075,683	Y251H	probably damaging	Het
Rec8	T	C	14: 55,625,303	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,646,427		probably null	Het
Sec31b	A	G	19: 44,520,540	S667P	probably benign	Het
Smim17	A	G	7: 6,424,850	D45G	possibly damaging	Het
Sspo	A	G	6: 48,487,329	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,896,597	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,898,557	M1L	probably benign	Het
Tcrg-C4	T	A	13: 19,349,570	S121R		Het
Tpx2	C	T	2: 152,893,594	A714V	probably damaging	Het
Trmt1	G	A	8: 84,689,340	R9H	possibly damaging	Het
Unc13a	A	T	8: 71,658,487	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,502,327	I10N	probably damaging	Het
Zkscan14	G	T	5: 145,195,898	H274Q	probably damaging	Het

Other mutations in Xkr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03398:Xkr4	APN	1	3216575	missense	probably damaging	1.00
R0200:Xkr4	UTSW	1	3670663	missense	probably benign	0.00
R0829:Xkr4	UTSW	1	3671246	missense	possibly damaging	0.59
R0830:Xkr4	UTSW	1	3670745	missense	possibly damaging	0.48
R0959:Xkr4	UTSW	1	3216674	missense	probably damaging	1.00
R1242:Xkr4	UTSW	1	3216137	missense	probably damaging	1.00
R1257:Xkr4	UTSW	1	3216813	missense	probably benign	0.29
R2002:Xkr4	UTSW	1	3671095	missense	probably benign
R3896:Xkr4	UTSW	1	3216191	missense	probably damaging	0.99
R4006:Xkr4	UTSW	1	3421775	missense	probably benign	0.01
R4173:Xkr4	UTSW	1	3216488	missense	probably damaging	1.00
R4770:Xkr4	UTSW	1	3216491	missense	probably damaging	1.00
R4868:Xkr4	UTSW	1	3216851	missense	probably damaging	1.00
R5103:Xkr4	UTSW	1	3670688	missense	probably benign
R5548:Xkr4	UTSW	1	3216930	missense	probably damaging	1.00
R5602:Xkr4	UTSW	1	3216528	missense	probably benign	0.18
R5608:Xkr4	UTSW	1	3671380	start gained	probably benign
R5668:Xkr4	UTSW	1	3671035	missense	probably damaging	1.00
R5901:Xkr4	UTSW	1	3216678	missense	probably damaging	0.99
R6296:Xkr4	UTSW	1	3216570	missense	probably benign	0.01
R6302:Xkr4	UTSW	1	3216738	missense	probably damaging	0.99
R6326:Xkr4	UTSW	1	3671038	missense	possibly damaging	0.75
R6341:Xkr4	UTSW	1	3670778	missense	probably benign
R6911:Xkr4	UTSW	1	3671321	missense	possibly damaging	0.91
R7086:Xkr4	UTSW	1	3216962	missense	probably damaging	1.00
R7249:Xkr4	UTSW	1	3216810	missense	probably damaging	1.00
R7571:Xkr4	UTSW	1	3670688	missense	probably benign	0.00
R7881:Xkr4	UTSW	1	3216264	missense	probably damaging	1.00
R8332:Xkr4	UTSW	1	3421899	missense	probably damaging	1.00
R9076:Xkr4	UTSW	1	3216135	nonsense	probably null
R9134:Xkr4	UTSW	1	3670637	missense	probably benign
R9618:Xkr4	UTSW	1	3670978	missense	probably damaging	1.00
R9663:Xkr4	UTSW	1	3216296	missense	probably benign	0.01
Z1176:Xkr4	UTSW	1	3670981	missense	probably damaging	1.00
Z1176:Xkr4	UTSW	1	3670982	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTGGCTTACTAGTCATTAGGAAAG -3'
(R):5'- TGATTTCAGCACCGAGGACAG -3'

Sequencing Primer
(F):5'- GATTTCATGCAAAAGTAGAACAGTG -3'
(R):5'- GAGGACAGCTCCACGACC -3'

Posted On

2020-09-15