Mutagenetix > Incidental Mutation

Incidental Mutation 'R6336:Kdm5a'

510756

Institutional Source

Beutler Lab

Gene Symbol

Kdm5a

Ensembl Gene

ENSMUSG00000030180

Gene Name

lysine demethylase 5A

Synonyms

Rbbp2, Jarid1a, RBP2

MMRRC Submission

044490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120341085-120421535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120375939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 565 (T565K)

Ref Sequence

ENSEMBL: ENSMUSP00000145021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005108] [ENSMUST00000132009] [ENSMUST00000135802]

AlphaFold

Q3UXZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005108
AA Change: T565K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000005108
Gene: ENSMUSG00000030180
AA Change: T565K

Domain	Start	End	E-Value	Type
JmjN	18	59	4.06e-20	SMART
ARID	81	170	4.76e-35	SMART
BRIGHT	85	175	2.48e-31	SMART
PHD	295	341	1.16e-14	SMART
Blast:JmjC	384	436	2e-22	BLAST
JmjC	437	603	5.88e-73	SMART
low complexity region	638	651	N/A	INTRINSIC
Pfam:zf-C5HC2	676	729	1.3e-21	PFAM
Pfam:PLU-1	740	1072	1.2e-104	PFAM
low complexity region	1091	1119	N/A	INTRINSIC
PHD	1163	1216	1.37e-11	SMART
low complexity region	1269	1280	N/A	INTRINSIC
low complexity region	1337	1351	N/A	INTRINSIC
low complexity region	1403	1414	N/A	INTRINSIC
low complexity region	1494	1512	N/A	INTRINSIC
coiled coil region	1534	1579	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132009
AA Change: T565K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145375
Gene: ENSMUSG00000030180
AA Change: T565K

Domain	Start	End	E-Value	Type
JmjN	18	59	4.06e-20	SMART
ARID	81	170	4.76e-35	SMART
BRIGHT	85	175	2.48e-31	SMART
PHD	295	341	1.16e-14	SMART
JmjC	437	603	1.47e-64	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135802
AA Change: T565K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145021
Gene: ENSMUSG00000030180
AA Change: T565K

Domain	Start	End	E-Value	Type
JmjN	18	59	1.7e-22	SMART
ARID	81	170	3.6e-39	SMART
BRIGHT	85	175	1.2e-33	SMART
PHD	295	341	7.3e-17	SMART
Blast:JmjC	384	436	2e-22	BLAST
JmjC	437	603	2.2e-75	SMART
low complexity region	638	651	N/A	INTRINSIC
Pfam:zf-C5HC2	676	728	6.3e-15	PFAM
Pfam:PLU-1	741	811	9.8e-16	PFAM

Meta Mutation Damage Score

0.5855

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (45/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatalsurvival is sensitive to genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	T	5: 113,331,349 (GRCm39)	P955Q	possibly damaging	Het
Adgrv1	T	C	13: 81,534,100 (GRCm39)	N5827S	probably benign	Het
Akt3	T	C	1: 176,859,278 (GRCm39)	D431G	probably damaging	Het
Anapc16	A	T	10: 59,824,651 (GRCm39)	V76D	possibly damaging	Het
Ankib1	A	T	5: 3,750,377 (GRCm39)	Y755*	probably null	Het
Ankrd6	A	G	4: 32,860,411 (GRCm39)	S11P	probably damaging	Het
Card6	T	A	15: 5,128,646 (GRCm39)	K917*	probably null	Het
Ccdc152	T	C	15: 3,330,611 (GRCm39)	I21M	probably damaging	Het
Ccdc40	A	G	11: 119,122,819 (GRCm39)	E207G	possibly damaging	Het
Clca3a2	G	T	3: 144,512,239 (GRCm39)	A499E	probably benign	Het
Cntnap5b	C	T	1: 100,286,394 (GRCm39)	A383V	probably benign	Het
Ddo	T	C	10: 40,509,027 (GRCm39)	V89A	probably damaging	Het
Depdc5	T	C	5: 33,121,851 (GRCm39)	176	probably null	Het
Dlgap1	T	A	17: 71,122,284 (GRCm39)	D904E	probably damaging	Het
Ephb4	T	A	5: 137,370,347 (GRCm39)	L849H	probably damaging	Het
Fbxl13	A	G	5: 21,728,545 (GRCm39)		probably null	Het
Fer1l6	C	A	15: 58,431,081 (GRCm39)	Y245*	probably null	Het
Foxred2	A	G	15: 77,839,964 (GRCm39)	Y109H	probably damaging	Het
Gabarapl1	A	G	6: 129,514,491 (GRCm39)	D43G	probably benign	Het
Gabrb1	A	C	5: 72,187,241 (GRCm39)	E178A	possibly damaging	Het
Gbp11	A	G	5: 105,473,355 (GRCm39)			Het
Grin3b	C	A	10: 79,812,295 (GRCm39)	A845E	probably damaging	Het
Hoxd4	A	G	2: 74,557,705 (GRCm39)	Y28C	probably damaging	Het
Igsf10	G	A	3: 59,237,760 (GRCm39)	T807M	probably benign	Het
Kcnt1	A	G	2: 25,778,767 (GRCm39)		probably null	Het
Map7d1	A	G	4: 126,130,475 (GRCm39)	S412P	probably damaging	Het
Mok	A	G	12: 110,800,558 (GRCm39)		probably null	Het
Mto1	A	T	9: 78,381,117 (GRCm39)	I73F	probably damaging	Het
Mtss2	G	A	8: 111,458,796 (GRCm39)	D310N	probably damaging	Het
Ncf2	T	C	1: 152,709,821 (GRCm39)	Y393H	probably damaging	Het
Or13c25	A	T	4: 52,911,459 (GRCm39)	C112S	probably damaging	Het
Or2f1b	T	C	6: 42,739,591 (GRCm39)	S202P	probably damaging	Het
Or2y14	G	T	11: 49,405,369 (GRCm39)	K301N	probably damaging	Het
Or4f47	A	C	2: 111,972,751 (GRCm39)	I154L	probably benign	Het
Or4k49	A	G	2: 111,494,964 (GRCm39)	H131R	possibly damaging	Het
Or52z1	T	C	7: 103,437,452 (GRCm39)	T11A	possibly damaging	Het
Phxr2	T	A	10: 98,961,952 (GRCm39)		probably benign	Het
Potefam3f	A	G	8: 20,499,951 (GRCm39)	K242E	unknown	Het
Rnf17	A	G	14: 56,658,626 (GRCm39)		probably null	Het
Serpinb9d	T	C	13: 33,378,677 (GRCm39)	M41T	probably damaging	Het
Slc12a5	T	A	2: 164,834,384 (GRCm39)		probably null	Het
Slc22a6	G	A	19: 8,599,494 (GRCm39)	R331H	probably benign	Het
Spg11	G	C	2: 121,943,440 (GRCm39)		probably null	Het
Src	T	A	2: 157,299,075 (GRCm39)	V24E	probably benign	Het
Srgap1	A	T	10: 121,761,846 (GRCm39)	Y101N	probably benign	Het
Vmn2r30	T	A	7: 7,337,307 (GRCm39)	T110S	probably benign	Het
Vwa3a	A	G	7: 120,361,646 (GRCm39)	E119G	possibly damaging	Het
Whamm	T	A	7: 81,241,512 (GRCm39)	D274E	probably damaging	Het

Other mutations in Kdm5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Kdm5a	APN	6	120,362,680 (GRCm39)	critical splice donor site	probably null	0.00
IGL00706:Kdm5a	APN	6	120,383,597 (GRCm39)	missense	possibly damaging	0.44
IGL01361:Kdm5a	APN	6	120,375,977 (GRCm39)	missense	probably damaging	1.00
IGL01402:Kdm5a	APN	6	120,367,640 (GRCm39)	nonsense	probably null	0.00
IGL01924:Kdm5a	APN	6	120,371,216 (GRCm39)	critical splice donor site	probably null	0.00
IGL01935:Kdm5a	APN	6	120,385,284 (GRCm39)	missense	probably benign	0.02
IGL02165:Kdm5a	APN	6	120,392,251 (GRCm39)	missense	probably damaging	1.00
IGL02472:Kdm5a	APN	6	120,383,691 (GRCm39)	splice site	probably benign
IGL02506:Kdm5a	APN	6	120,409,110 (GRCm39)	missense	probably damaging	0.99
IGL02604:Kdm5a	APN	6	120,408,941 (GRCm39)	missense	probably benign
IGL02633:Kdm5a	APN	6	120,341,680 (GRCm39)	missense	probably damaging	1.00
IGL02876:Kdm5a	APN	6	120,367,605 (GRCm39)	unclassified	probably benign
IGL03009:Kdm5a	APN	6	120,407,047 (GRCm39)	missense	probably damaging	0.98
IGL03027:Kdm5a	APN	6	120,351,951 (GRCm39)	splice site	probably null
IGL03164:Kdm5a	APN	6	120,415,980 (GRCm39)	missense	probably damaging	1.00
IGL03236:Kdm5a	APN	6	120,415,949 (GRCm39)	missense	probably damaging	0.98
IGL03276:Kdm5a	APN	6	120,379,669 (GRCm39)	splice site	probably benign
Anastasia	UTSW	6	120,407,192 (GRCm39)	nonsense	probably null
Augmented	UTSW	6	120,406,977 (GRCm39)	intron	probably benign
Calla_lily	UTSW	6	120,381,983 (GRCm39)	missense	probably damaging	1.00
crocus	UTSW	6	120,375,999 (GRCm39)	missense	probably null	0.98
Magnolia	UTSW	6	120,375,939 (GRCm39)	missense	probably damaging	0.99
Saffron	UTSW	6	120,366,581 (GRCm39)	missense	probably benign	0.19
Selbst	UTSW	6	120,365,066 (GRCm39)	nonsense	probably null
R0320:Kdm5a	UTSW	6	120,366,581 (GRCm39)	missense	probably benign	0.19
R0462:Kdm5a	UTSW	6	120,379,561 (GRCm39)	missense	probably damaging	1.00
R0601:Kdm5a	UTSW	6	120,379,632 (GRCm39)	missense	possibly damaging	0.76
R0628:Kdm5a	UTSW	6	120,392,200 (GRCm39)	missense	probably damaging	1.00
R1024:Kdm5a	UTSW	6	120,375,999 (GRCm39)	missense	probably null	0.98
R2013:Kdm5a	UTSW	6	120,408,951 (GRCm39)	missense	probably benign	0.09
R2015:Kdm5a	UTSW	6	120,408,951 (GRCm39)	missense	probably benign	0.09
R2061:Kdm5a	UTSW	6	120,358,578 (GRCm39)	missense	probably benign
R2188:Kdm5a	UTSW	6	120,383,601 (GRCm39)	missense	possibly damaging	0.59
R3923:Kdm5a	UTSW	6	120,358,625 (GRCm39)	missense	probably benign	0.01
R4013:Kdm5a	UTSW	6	120,371,067 (GRCm39)	missense	probably damaging	1.00
R4016:Kdm5a	UTSW	6	120,371,067 (GRCm39)	missense	probably damaging	1.00
R4017:Kdm5a	UTSW	6	120,371,067 (GRCm39)	missense	probably damaging	1.00
R4030:Kdm5a	UTSW	6	120,382,074 (GRCm39)	nonsense	probably null
R4646:Kdm5a	UTSW	6	120,351,938 (GRCm39)	missense	possibly damaging	0.55
R4737:Kdm5a	UTSW	6	120,382,976 (GRCm39)	intron	probably benign
R4779:Kdm5a	UTSW	6	120,346,060 (GRCm39)	unclassified	probably benign
R4836:Kdm5a	UTSW	6	120,389,363 (GRCm39)	missense	probably damaging	1.00
R5129:Kdm5a	UTSW	6	120,381,983 (GRCm39)	missense	probably damaging	1.00
R5182:Kdm5a	UTSW	6	120,365,066 (GRCm39)	nonsense	probably null
R5183:Kdm5a	UTSW	6	120,406,977 (GRCm39)	intron	probably benign
R5572:Kdm5a	UTSW	6	120,389,336 (GRCm39)	missense	possibly damaging	0.69
R6110:Kdm5a	UTSW	6	120,389,267 (GRCm39)	missense	probably damaging	1.00
R6132:Kdm5a	UTSW	6	120,351,892 (GRCm39)	missense	probably damaging	1.00
R6198:Kdm5a	UTSW	6	120,415,958 (GRCm39)	missense	probably benign	0.37
R6246:Kdm5a	UTSW	6	120,408,871 (GRCm39)	missense	probably damaging	0.97
R6343:Kdm5a	UTSW	6	120,359,894 (GRCm39)	missense	probably benign	0.01
R6612:Kdm5a	UTSW	6	120,407,189 (GRCm39)	missense	probably damaging	0.99
R6647:Kdm5a	UTSW	6	120,389,422 (GRCm39)	missense	probably benign	0.25
R7068:Kdm5a	UTSW	6	120,407,176 (GRCm39)	missense	probably benign	0.40
R7369:Kdm5a	UTSW	6	120,408,965 (GRCm39)	missense	possibly damaging	0.67
R7380:Kdm5a	UTSW	6	120,382,879 (GRCm39)	missense	probably benign	0.35
R7411:Kdm5a	UTSW	6	120,403,776 (GRCm39)	missense	probably damaging	1.00
R7521:Kdm5a	UTSW	6	120,409,148 (GRCm39)	nonsense	probably null
R7570:Kdm5a	UTSW	6	120,404,803 (GRCm39)	missense	probably damaging	0.99
R7647:Kdm5a	UTSW	6	120,404,747 (GRCm39)	missense	probably benign	0.01
R7704:Kdm5a	UTSW	6	120,404,025 (GRCm39)	missense	probably damaging	1.00
R7796:Kdm5a	UTSW	6	120,367,724 (GRCm39)	missense	probably damaging	1.00
R7875:Kdm5a	UTSW	6	120,375,979 (GRCm39)	nonsense	probably null
R8265:Kdm5a	UTSW	6	120,383,557 (GRCm39)	missense	possibly damaging	0.72
R8297:Kdm5a	UTSW	6	120,358,516 (GRCm39)	missense	probably benign	0.00
R8336:Kdm5a	UTSW	6	120,396,407 (GRCm39)	missense	probably benign	0.00
R8471:Kdm5a	UTSW	6	120,407,192 (GRCm39)	nonsense	probably null
R8872:Kdm5a	UTSW	6	120,365,101 (GRCm39)	missense	probably damaging	1.00
R8890:Kdm5a	UTSW	6	120,366,624 (GRCm39)	missense	probably damaging	1.00
R9028:Kdm5a	UTSW	6	120,416,092 (GRCm39)	missense	probably benign
R9064:Kdm5a	UTSW	6	120,403,869 (GRCm39)	small deletion	probably benign
R9114:Kdm5a	UTSW	6	120,382,887 (GRCm39)	nonsense	probably null
R9316:Kdm5a	UTSW	6	120,381,973 (GRCm39)	missense	probably damaging	1.00
R9353:Kdm5a	UTSW	6	120,404,730 (GRCm39)	missense	probably benign	0.01
R9412:Kdm5a	UTSW	6	120,365,991 (GRCm39)	missense	probably damaging	1.00
R9416:Kdm5a	UTSW	6	120,365,056 (GRCm39)	missense	probably damaging	1.00
R9431:Kdm5a	UTSW	6	120,392,253 (GRCm39)	missense	probably damaging	1.00
R9711:Kdm5a	UTSW	6	120,367,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCAGAAGCAGAGACAGGTGGAA -3'
(R):5'- GAACAGACCCAGTCAGCAGTACA -3'

Sequencing Primer
(F):5'- TTGAGTTTGAGACCAACCTG -3'
(R):5'- CCAGTCAGCAGTACAGAAGT -3'

Posted On

2018-04-02