Mutagenetix > Incidental Mutations

Incidental Mutation 'R8141:Kdm3b'

632559

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

JHDM2B, Jmjd1b, 5830462I21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34777047-34838660 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 34828546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1459 (K1459*)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000225195]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000043775
AA Change: K1459*

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: K1459*

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Blast:JmjC	149	944	N/A	BLAST
Blast:JmjC	946	1064	5e-40	BLAST
Blast:JmjC	1069	1471	N/A	BLAST
JmjC	1499	1722	2.43e-65	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000225195
AA Change: K1259*

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.3%
20x: 90.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,258,405	T229A	probably benign	Het
4930438A08Rik	A	G	11: 58,286,585	E40G		Het
Actn2	T	C	13: 12,288,630	D428G	probably damaging	Het
Arl14epl	C	A	18: 46,926,343	N8K	probably benign	Het
Bend7	T	C	2: 4,752,825	V226A	probably benign	Het
C1s1	A	T	6: 124,531,362	L556Q	probably damaging	Het
Casr	T	C	16: 36,494,811	K966E	probably damaging	Het
Ccm2l	T	C	2: 153,070,871	L110P	probably damaging	Het
Cdhr4	G	A	9: 107,996,792	R59H		Het
Celf3	C	A	3: 94,488,543	N410K	probably damaging	Het
Cpne6	T	C	14: 55,512,609	C66R	possibly damaging	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam53b	A	C	7: 132,760,029	V90G	probably damaging	Het
Fat3	T	A	9: 15,997,066	I2547F	possibly damaging	Het
Foxk1	A	G	5: 142,453,961	Y524C	probably damaging	Het
Gm884	T	C	11: 103,621,029	T38A	unknown	Het
Gpr87	A	G	3: 59,179,599	S162P	probably damaging	Het
Grasp	T	A	15: 101,231,909	C358S	possibly damaging	Het
Ifi204	A	G	1: 173,755,623	V343A	possibly damaging	Het
Igsf10	A	G	3: 59,330,528	L744P	probably damaging	Het
Iqub	T	A	6: 24,491,609	K359N	probably benign	Het
Kirrel	C	T	3: 87,086,428	W507*	probably null	Het
Klra17	T	C	6: 129,872,329	D94G	probably damaging	Het
Llgl1	G	C	11: 60,710,316	E693D	probably benign	Het
Lypd4	A	T	7: 24,864,829	D201E	possibly damaging	Het
Nin	A	G	12: 70,030,021	S1794P		Het
Olfr430	T	C	1: 174,069,922	L208P	probably damaging	Het
Oog2	T	C	4: 144,194,207	L70P	probably damaging	Het
Pacsin1	G	T	17: 27,707,060	R282S	possibly damaging	Het
Pcdhb9	T	A	18: 37,402,308	Y452N	probably damaging	Het
Pdgfra	T	C	5: 75,177,726	V547A	possibly damaging	Het
Plcb4	T	C	2: 135,939,249	F209L	probably damaging	Het
Pnpla6	T	C	8: 3,521,384	S158P	probably benign	Het
Prlhr	C	G	19: 60,467,309	R273P	probably damaging	Het
Prss41	G	A	17: 23,837,633	P196L	probably damaging	Het
Ptpn22	A	G	3: 103,886,327	E598G	possibly damaging	Het
Rasal2	T	C	1: 157,164,670	D569G	possibly damaging	Het
Sf3b3	A	C	8: 110,820,851	M715R	possibly damaging	Het
Ska1	T	C	18: 74,206,836	N13S	probably benign	Het
Spocd1	A	C	4: 129,929,704	E98A		Het
Sycp1	G	T	3: 102,935,569	A28E	possibly damaging	Het
Syf2	C	T	4: 134,936,871	R199C	probably damaging	Het
Syne2	A	G	12: 76,061,668	D942G	possibly damaging	Het
Tmem63a	A	G	1: 180,974,211	T764A	probably benign	Het
Ttf1	C	T	2: 29,067,226	Q503*	probably null	Het
Usp13	T	C	3: 32,894,876	V454A	possibly damaging	Het
Usp47	A	G	7: 112,053,265	T50A	possibly damaging	Het
Wdr66	T	G	5: 123,286,430	V726G	possibly damaging	Het
Zadh2	T	C	18: 84,094,526	L109P	probably benign	Het
Zfyve26	A	T	12: 79,268,557	C1382S	possibly damaging	Het

Other mutations in Kdm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Kdm3b	APN	18	34809409	missense	probably benign	0.03
IGL01357:Kdm3b	APN	18	34793014	missense	probably damaging	1.00
IGL01615:Kdm3b	APN	18	34829231	missense	probably damaging	1.00
IGL01980:Kdm3b	APN	18	34834236	missense	probably damaging	1.00
IGL02277:Kdm3b	APN	18	34823664	missense	probably damaging	1.00
IGL02346:Kdm3b	APN	18	34834238	missense	probably damaging	1.00
IGL02417:Kdm3b	APN	18	34808577	missense	probably benign	0.03
IGL02531:Kdm3b	APN	18	34795729	missense	probably benign
IGL02589:Kdm3b	APN	18	34812418	missense	possibly damaging	0.89
IGL02793:Kdm3b	APN	18	34829019	missense	probably damaging	0.99
IGL03121:Kdm3b	APN	18	34795709	missense	probably damaging	0.98
IGL03123:Kdm3b	APN	18	34809491	critical splice donor site	probably null
IGL03128:Kdm3b	APN	18	34827427	missense	probably damaging	1.00
Affable	UTSW	18	34793005	missense	probably damaging	1.00
Dotage	UTSW	18	34827382	missense	probably damaging	1.00
Endearing	UTSW	18	34827328	splice site	probably null
Oldtimer	UTSW	18	34823699	nonsense	probably null
PIT4382001:Kdm3b	UTSW	18	34809087	missense	probably damaging	1.00
PIT4445001:Kdm3b	UTSW	18	34793115	nonsense	probably null
R0068:Kdm3b	UTSW	18	34824774	missense	probably benign	0.18
R0068:Kdm3b	UTSW	18	34824774	missense	probably benign	0.18
R0233:Kdm3b	UTSW	18	34809420	missense	probably damaging	0.97
R0265:Kdm3b	UTSW	18	34795663	splice site	probably benign
R0306:Kdm3b	UTSW	18	34804017	missense	probably benign	0.35
R0941:Kdm3b	UTSW	18	34803552	missense	probably damaging	0.99
R0970:Kdm3b	UTSW	18	34809039	missense	probably damaging	1.00
R1061:Kdm3b	UTSW	18	34796862	missense	probably damaging	1.00
R1104:Kdm3b	UTSW	18	34819811	missense	probably damaging	1.00
R1221:Kdm3b	UTSW	18	34808245	missense	possibly damaging	0.57
R1486:Kdm3b	UTSW	18	34834304	missense	probably damaging	1.00
R1523:Kdm3b	UTSW	18	34793173	critical splice donor site	probably null
R1558:Kdm3b	UTSW	18	34809096	missense	probably damaging	1.00
R1585:Kdm3b	UTSW	18	34809292	missense	probably damaging	1.00
R1601:Kdm3b	UTSW	18	34808731	missense	probably damaging	1.00
R1650:Kdm3b	UTSW	18	34809115	missense	possibly damaging	0.93
R1772:Kdm3b	UTSW	18	34803504	missense	probably benign	0.01
R1853:Kdm3b	UTSW	18	34833393	missense	probably damaging	1.00
R1934:Kdm3b	UTSW	18	34813544	missense	probably benign	0.04
R1959:Kdm3b	UTSW	18	34812395	missense	possibly damaging	0.55
R2079:Kdm3b	UTSW	18	34803517	missense	probably damaging	1.00
R2102:Kdm3b	UTSW	18	34830147	missense	probably damaging	1.00
R2121:Kdm3b	UTSW	18	34796780	splice site	probably benign
R2281:Kdm3b	UTSW	18	34808419	missense	probably damaging	1.00
R3719:Kdm3b	UTSW	18	34808671	missense	probably damaging	1.00
R3755:Kdm3b	UTSW	18	34808296	missense	probably benign
R3857:Kdm3b	UTSW	18	34833387	missense	probably benign
R4165:Kdm3b	UTSW	18	34795744	missense	probably benign	0.01
R4166:Kdm3b	UTSW	18	34795744	missense	probably benign	0.01
R4372:Kdm3b	UTSW	18	34827444	missense	probably benign	0.00
R4672:Kdm3b	UTSW	18	34808577	missense	probably benign
R4933:Kdm3b	UTSW	18	34810393	missense	probably damaging	1.00
R4969:Kdm3b	UTSW	18	34822375	missense	probably damaging	1.00
R5009:Kdm3b	UTSW	18	34824710	missense	probably benign	0.42
R5059:Kdm3b	UTSW	18	34777197	missense	possibly damaging	0.83
R5092:Kdm3b	UTSW	18	34813462	missense	probably benign	0.16
R5270:Kdm3b	UTSW	18	34827414	missense	probably damaging	1.00
R5816:Kdm3b	UTSW	18	34828469	missense	probably damaging	0.99
R5970:Kdm3b	UTSW	18	34829289	missense	probably damaging	1.00
R6244:Kdm3b	UTSW	18	34793005	missense	probably damaging	1.00
R6705:Kdm3b	UTSW	18	34819873	missense	probably damaging	1.00
R6723:Kdm3b	UTSW	18	34793005	missense	probably damaging	0.99
R6909:Kdm3b	UTSW	18	34827328	splice site	probably null
R6958:Kdm3b	UTSW	18	34808283	missense	probably benign	0.00
R7026:Kdm3b	UTSW	18	34822464	missense	possibly damaging	0.90
R7289:Kdm3b	UTSW	18	34794504	missense	probably benign	0.00
R7488:Kdm3b	UTSW	18	34824881	missense	probably damaging	0.97
R7587:Kdm3b	UTSW	18	34797027	splice site	probably null
R7695:Kdm3b	UTSW	18	34794559	missense	possibly damaging	0.86
R7846:Kdm3b	UTSW	18	34809240	missense	possibly damaging	0.94
R7984:Kdm3b	UTSW	18	34823699	nonsense	probably null
R7997:Kdm3b	UTSW	18	34808283	missense	probably benign	0.00
R8035:Kdm3b	UTSW	18	34808728	missense	probably damaging	1.00
R8064:Kdm3b	UTSW	18	34813407	critical splice acceptor site	probably null
R8302:Kdm3b	UTSW	18	34834335	missense	probably damaging	1.00
R8328:Kdm3b	UTSW	18	34793070	missense	probably damaging	1.00
R8443:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8513:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8515:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8523:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8717:Kdm3b	UTSW	18	34819787	missense	probably damaging	0.98
R8725:Kdm3b	UTSW	18	34827382	missense	probably damaging	1.00
R8727:Kdm3b	UTSW	18	34827382	missense	probably damaging	1.00
R8762:Kdm3b	UTSW	18	34804104	missense	probably benign
R8835:Kdm3b	UTSW	18	34808749	missense	probably damaging	1.00
R8918:Kdm3b	UTSW	18	34837597	missense	probably damaging	1.00
R9015:Kdm3b	UTSW	18	34830159	missense	probably damaging	1.00
R9144:Kdm3b	UTSW	18	34794505	missense	probably benign
R9246:Kdm3b	UTSW	18	34808427	nonsense	probably null
R9376:Kdm3b	UTSW	18	34837665	missense	probably damaging	0.99
X0028:Kdm3b	UTSW	18	34799266	splice site	probably null
X0067:Kdm3b	UTSW	18	34823517	missense	probably benign	0.00
Z1176:Kdm3b	UTSW	18	34809069	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AATTCTCATGGAGCACAGCATG -3'
(R):5'- AACCTAAGTCTTCCATGAAGCG -3'

Sequencing Primer
(F):5'- CACAGCATGTGTAGATGGTTCTC -3'
(R):5'- CTGCTCTGGGATGACAGGACTG -3'

Posted On

2020-06-30