Mutagenetix > Incidental Mutation

Incidental Mutation 'R1110:Kdm5d'

96726

Institutional Source

Beutler Lab

Gene Symbol

Kdm5d

Ensembl Gene

ENSMUSG00000056673

Gene Name

lysine demethylase 5D

Synonyms

Smcy, HY, Jarid1d

MMRRC Submission

039183-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1110 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

897566-943813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 910539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 250 (L250H)

Ref Sequence

ENSEMBL: ENSMUSP00000139636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055032] [ENSMUST00000186696] [ENSMUST00000186726] [ENSMUST00000189069]

AlphaFold

Q62240

Predicted Effect

probably damaging
Transcript: ENSMUST00000055032
AA Change: L250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061095
Gene: ENSMUSG00000056673
AA Change: L250H

Domain	Start	End	E-Value	Type
JmjN	13	54	3.45e-23	SMART
ARID	76	165	4.84e-36	SMART
BRIGHT	80	170	4.48e-38	SMART
PHD	325	371	8.56e-13	SMART
JmjC	467	633	2.52e-63	SMART
Pfam:zf-C5HC2	706	758	5.2e-18	PFAM
Pfam:PLU-1	771	1096	1.4e-89	PFAM
low complexity region	1147	1156	N/A	INTRINSIC
low complexity region	1164	1181	N/A	INTRINSIC
PHD	1182	1243	2.54e-6	SMART
coiled coil region	1290	1318	N/A	INTRINSIC
low complexity region	1340	1351	N/A	INTRINSIC
low complexity region	1395	1406	N/A	INTRINSIC
low complexity region	1453	1459	N/A	INTRINSIC
low complexity region	1525	1541	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186696
AA Change: L250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140663
Gene: ENSMUSG00000056673
AA Change: L250H

Domain	Start	End	E-Value	Type
JmjN	13	54	3.45e-23	SMART
ARID	76	165	4.84e-36	SMART
BRIGHT	80	170	4.48e-38	SMART
PHD	325	371	8.56e-13	SMART
JmjC	467	633	2.52e-63	SMART
low complexity region	675	689	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186726
AA Change: L250H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140462
Gene: ENSMUSG00000056673
AA Change: L250H

Domain	Start	End	E-Value	Type
JmjN	13	54	1.4e-25	SMART
ARID	76	165	3.8e-40	SMART
BRIGHT	80	170	2.3e-40	SMART
Blast:ARID	175	260	1e-41	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188910

Predicted Effect

probably damaging
Transcript: ENSMUST00000189069
AA Change: L250H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139636
Gene: ENSMUSG00000056673
AA Change: L250H

Domain	Start	End	E-Value	Type
JmjN	13	54	3.45e-23	SMART
ARID	76	165	4.84e-36	SMART
BRIGHT	80	170	4.48e-38	SMART
Blast:ARID	175	298	1e-46	BLAST
PHD	325	371	8.56e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189626

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	A	4: 155,989,856 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Arhgef39	T	C	4: 43,496,834 (GRCm39)	T327A	probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdh18	A	G	15: 23,474,403 (GRCm39)	T758A	probably benign	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dock2	A	T	11: 34,206,535 (GRCm39)	F1354I	possibly damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Dzip1	T	C	14: 119,126,717 (GRCm39)	N527S	probably benign	Het
Eomes	A	G	9: 118,313,667 (GRCm39)	I571V	probably benign	Het
Fbxl13	T	C	5: 21,689,034 (GRCm39)	D758G	probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gm9755	A	T	8: 67,967,710 (GRCm39)		noncoding transcript	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Igdcc4	A	G	9: 65,034,208 (GRCm39)	H674R	possibly damaging	Het
Kif1a	T	C	1: 92,951,175 (GRCm39)		probably benign	Het
Kmt2c	T	C	5: 25,519,360 (GRCm39)	N2250S	probably benign	Het
Kmt2e	C	T	5: 23,707,653 (GRCm39)	H1739Y	probably damaging	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Myh10	T	C	11: 68,682,676 (GRCm39)		probably benign	Het
Myom2	G	A	8: 15,172,413 (GRCm39)	E1171K	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Parp6	G	T	9: 59,556,847 (GRCm39)	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pibf1	C	T	14: 99,350,409 (GRCm39)	R186C	probably damaging	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Reln	A	T	5: 22,239,773 (GRCm39)	D831E	probably benign	Het
Samd9l	T	A	6: 3,374,267 (GRCm39)	D998V	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Setbp1	G	A	18: 78,901,075 (GRCm39)	T864I	probably damaging	Het
Slc9a1	T	A	4: 133,097,859 (GRCm39)	M2K	probably benign	Het
Sorbs2	A	G	8: 46,248,767 (GRCm39)	T593A	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Urgcp	T	C	11: 5,666,004 (GRCm39)	N778S	probably benign	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Xntrpc	A	G	7: 101,732,181 (GRCm39)	R365G	possibly damaging	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	Het

Other mutations in Kdm5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0013:Kdm5d	UTSW	Y	941,715 (GRCm39)	missense	probably benign	0.37
R0013:Kdm5d	UTSW	Y	941,715 (GRCm39)	missense	probably benign	0.37
R0426:Kdm5d	UTSW	Y	942,437 (GRCm39)	splice site	probably benign
R0486:Kdm5d	UTSW	Y	927,107 (GRCm39)	missense	probably damaging	1.00
R0620:Kdm5d	UTSW	Y	927,330 (GRCm39)	missense	probably damaging	0.98
R0781:Kdm5d	UTSW	Y	910,539 (GRCm39)	missense	probably damaging	1.00
R1015:Kdm5d	UTSW	Y	941,687 (GRCm39)	missense	possibly damaging	0.95
R1163:Kdm5d	UTSW	Y	898,029 (GRCm39)	missense	probably benign	0.18
R1203:Kdm5d	UTSW	Y	941,011 (GRCm39)	missense	probably damaging	1.00
R1238:Kdm5d	UTSW	Y	941,282 (GRCm39)	missense	probably damaging	1.00
R1723:Kdm5d	UTSW	Y	927,753 (GRCm39)	missense	probably damaging	1.00
R1842:Kdm5d	UTSW	Y	927,798 (GRCm39)	missense	probably damaging	1.00
R1885:Kdm5d	UTSW	Y	940,781 (GRCm39)	splice site	probably null
R2131:Kdm5d	UTSW	Y	941,483 (GRCm39)	missense	probably benign	0.02
R2571:Kdm5d	UTSW	Y	940,932 (GRCm39)	missense	probably benign	0.11
R2931:Kdm5d	UTSW	Y	942,992 (GRCm39)	missense	probably benign	0.18
R3123:Kdm5d	UTSW	Y	900,558 (GRCm39)	missense	possibly damaging	0.63
R3919:Kdm5d	UTSW	Y	939,914 (GRCm39)	missense	probably damaging	1.00
R4018:Kdm5d	UTSW	Y	910,441 (GRCm39)	splice site	probably benign
R4031:Kdm5d	UTSW	Y	916,910 (GRCm39)	missense	probably damaging	1.00
R4403:Kdm5d	UTSW	Y	899,830 (GRCm39)	missense	probably damaging	1.00
R4571:Kdm5d	UTSW	Y	927,110 (GRCm39)	missense	probably damaging	1.00
R4583:Kdm5d	UTSW	Y	914,134 (GRCm39)	missense	probably damaging	1.00
R4962:Kdm5d	UTSW	Y	940,624 (GRCm39)	missense	probably damaging	1.00
R5105:Kdm5d	UTSW	Y	941,752 (GRCm39)	missense	probably benign	0.00
R5249:Kdm5d	UTSW	Y	916,692 (GRCm39)	missense	probably damaging	1.00
R5367:Kdm5d	UTSW	Y	941,645 (GRCm39)	missense	probably benign	0.05
R5373:Kdm5d	UTSW	Y	927,995 (GRCm39)	missense	probably benign	0.09
R5374:Kdm5d	UTSW	Y	927,995 (GRCm39)	missense	probably benign	0.09
R5876:Kdm5d	UTSW	Y	900,525 (GRCm39)	missense	probably damaging	1.00
R5909:Kdm5d	UTSW	Y	941,306 (GRCm39)	missense	probably benign	0.01
R6014:Kdm5d	UTSW	Y	921,528 (GRCm39)	missense	probably benign	0.45
R6109:Kdm5d	UTSW	Y	921,501 (GRCm39)	missense	probably damaging	1.00
R6251:Kdm5d	UTSW	Y	921,693 (GRCm39)	missense	probably damaging	1.00
R6349:Kdm5d	UTSW	Y	916,847 (GRCm39)	missense	probably damaging	0.99
R6450:Kdm5d	UTSW	Y	927,056 (GRCm39)	missense	probably damaging	1.00
R6595:Kdm5d	UTSW	Y	939,829 (GRCm39)	missense	probably benign
R6628:Kdm5d	UTSW	Y	900,525 (GRCm39)	missense	probably damaging	1.00
R6745:Kdm5d	UTSW	Y	927,112 (GRCm39)	missense	probably benign	0.28
R6867:Kdm5d	UTSW	Y	927,425 (GRCm39)	missense	probably benign
R6963:Kdm5d	UTSW	Y	937,975 (GRCm39)	missense	probably benign	0.01
R7163:Kdm5d	UTSW	Y	899,940 (GRCm39)	missense	probably damaging	1.00
R7374:Kdm5d	UTSW	Y	941,491 (GRCm39)	missense	probably benign	0.41
R7483:Kdm5d	UTSW	Y	914,044 (GRCm39)	missense	possibly damaging	0.50
R7501:Kdm5d	UTSW	Y	941,488 (GRCm39)	missense	probably damaging	1.00
R7815:Kdm5d	UTSW	Y	940,702 (GRCm39)	missense	probably damaging	1.00
R7835:Kdm5d	UTSW	Y	900,558 (GRCm39)	missense	possibly damaging	0.63
R8057:Kdm5d	UTSW	Y	927,355 (GRCm39)	missense	possibly damaging	0.48
R8080:Kdm5d	UTSW	Y	910,742 (GRCm39)	missense	probably benign	0.01
R8130:Kdm5d	UTSW	Y	940,658 (GRCm39)	missense	possibly damaging	0.75
R8213:Kdm5d	UTSW	Y	941,515 (GRCm39)	missense	probably damaging	1.00
R8261:Kdm5d	UTSW	Y	936,929 (GRCm39)	missense	probably damaging	0.99
R8344:Kdm5d	UTSW	Y	942,477 (GRCm39)	missense	probably benign	0.05
R8348:Kdm5d	UTSW	Y	914,056 (GRCm39)	missense	probably benign	0.00
R8445:Kdm5d	UTSW	Y	916,874 (GRCm39)	missense	probably damaging	1.00
R8448:Kdm5d	UTSW	Y	914,056 (GRCm39)	missense	probably benign	0.00
R8754:Kdm5d	UTSW	Y	941,594 (GRCm39)	missense	probably damaging	1.00
R9203:Kdm5d	UTSW	Y	940,981 (GRCm39)	missense	probably damaging	0.99
R9259:Kdm5d	UTSW	Y	942,640 (GRCm39)	missense	possibly damaging	0.84
R9541:Kdm5d	UTSW	Y	910,801 (GRCm39)	missense	probably damaging	1.00
R9668:Kdm5d	UTSW	Y	943,075 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GATAGCTTATCTGGGGCTGCATTGAC -3'
(R):5'- CCCCTTCACTACAATAGTTGCAGGGC -3'

Sequencing Primer
(F):5'- GCTGCATTGACTTTTCTAAGGTATTC -3'
(R):5'- CAGGGCATGTCACTTCTTCT -3'

Posted On

2014-01-05