Mutagenetix > Incidental Mutation

Incidental Mutation 'R5270:Kdm3b'

400247

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

042835-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R5270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34960467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1351 (S1351P)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043775
AA Change: S1351P

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

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: S1351P

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

noncoding transcript
Transcript: ENSMUST00000223567

Predicted Effect

probably benign
Transcript: ENSMUST00000225195
AA Change: S1151P

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.1096

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,282,650 (GRCm39)	V585A	possibly damaging	Het
Adam6a	A	T	12: 113,507,747 (GRCm39)	H40L	possibly damaging	Het
Adamts20	G	A	15: 94,180,400 (GRCm39)	P1752S	probably benign	Het
Atp5if1	A	G	4: 132,260,611 (GRCm39)	F27L	probably damaging	Het
B230104I21Rik	A	G	4: 154,434,050 (GRCm39)		probably benign	Het
Ciz1	C	A	2: 32,264,511 (GRCm39)		probably null	Het
Crb1	T	A	1: 139,164,602 (GRCm39)	Y1174F	probably damaging	Het
Csf2rb2	A	T	15: 78,176,182 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,918,312 (GRCm39)	M433K	probably benign	Het
Dock4	A	G	12: 40,783,270 (GRCm39)	I735V	probably benign	Het
Dpp6	C	T	5: 27,839,532 (GRCm39)	S349L	probably damaging	Het
Epg5	T	A	18: 78,026,778 (GRCm39)	N1256K	possibly damaging	Het
Epha4	A	G	1: 77,483,244 (GRCm39)	V255A	probably damaging	Het
Gabrb1	A	T	5: 72,265,669 (GRCm39)	D155V	probably damaging	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Hcrt	T	C	11: 100,652,823 (GRCm39)	T64A	probably damaging	Het
Henmt1	G	A	3: 108,867,530 (GRCm39)	R355H	probably benign	Het
Hrh1	C	A	6: 114,458,179 (GRCm39)	R487S	possibly damaging	Het
Ints2	T	C	11: 86,106,621 (GRCm39)	S930G	probably damaging	Het
Irs2	G	A	8: 11,056,678 (GRCm39)	Q585*	probably null	Het
Kcns1	C	A	2: 164,010,249 (GRCm39)	R170L	probably benign	Het
Ly9	T	C	1: 171,428,730 (GRCm39)	T297A	probably damaging	Het
M6pr	G	A	6: 122,292,048 (GRCm39)	D127N	possibly damaging	Het
Macir	T	C	1: 97,573,720 (GRCm39)	Q115R	probably damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Nit2	G	A	16: 56,977,494 (GRCm39)	P179S	probably damaging	Het
Per1	T	C	11: 68,994,424 (GRCm39)	M516T	probably benign	Het
Pkdrej	A	T	15: 85,702,528 (GRCm39)	I1136N	probably damaging	Het
Pramel27	A	G	4: 143,578,468 (GRCm39)	M243V	probably damaging	Het
Prdm9	G	T	17: 15,773,625 (GRCm39)	T257K	probably benign	Het
Prkdc	T	C	16: 15,552,819 (GRCm39)	L2085P	probably damaging	Het
Rasgrf1	A	C	9: 89,908,747 (GRCm39)	E1240D	probably benign	Het
Rrh	T	C	3: 129,606,998 (GRCm39)	I142V	probably benign	Het
Saal1	G	T	7: 46,351,157 (GRCm39)		probably benign	Het
Sdcbp2	A	G	2: 151,426,812 (GRCm39)	I70V	probably benign	Het
Skida1	C	A	2: 18,052,460 (GRCm39)	A231S	probably benign	Het
Smtnl2	T	A	11: 72,290,743 (GRCm39)	T401S	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spag4	G	T	2: 155,907,853 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,283 (GRCm39)	M179V	probably benign	Het
Tm9sf1	G	T	14: 55,873,938 (GRCm39)	T520N	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Vmn1r47	A	T	6: 89,999,525 (GRCm39)	Q219L	probably damaging	Het
Vmn2r104	A	T	17: 20,258,528 (GRCm39)	C539S	probably damaging	Het
Wdr17	G	T	8: 55,096,221 (GRCm39)	S1024R	probably benign	Het
Zc3h4	A	G	7: 16,168,440 (GRCm39)	T850A	unknown	Het
Zfa-ps	A	G	10: 52,419,552 (GRCm39)		noncoding transcript	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Zfp353-ps	G	T	8: 42,534,572 (GRCm39)		noncoding transcript	Het
Zfp607a	A	T	7: 27,577,730 (GRCm39)	K267*	probably null	Het

Other mutations in Kdm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Kdm3b	APN	18	34,942,462 (GRCm39)	missense	probably benign	0.03
IGL01357:Kdm3b	APN	18	34,926,067 (GRCm39)	missense	probably damaging	1.00
IGL01615:Kdm3b	APN	18	34,962,284 (GRCm39)	missense	probably damaging	1.00
IGL01980:Kdm3b	APN	18	34,967,289 (GRCm39)	missense	probably damaging	1.00
IGL02277:Kdm3b	APN	18	34,956,717 (GRCm39)	missense	probably damaging	1.00
IGL02346:Kdm3b	APN	18	34,967,291 (GRCm39)	missense	probably damaging	1.00
IGL02417:Kdm3b	APN	18	34,941,630 (GRCm39)	missense	probably benign	0.03
IGL02531:Kdm3b	APN	18	34,928,782 (GRCm39)	missense	probably benign
IGL02589:Kdm3b	APN	18	34,945,471 (GRCm39)	missense	possibly damaging	0.89
IGL02793:Kdm3b	APN	18	34,962,072 (GRCm39)	missense	probably damaging	0.99
IGL03121:Kdm3b	APN	18	34,928,762 (GRCm39)	missense	probably damaging	0.98
IGL03123:Kdm3b	APN	18	34,942,544 (GRCm39)	critical splice donor site	probably null
IGL03128:Kdm3b	APN	18	34,960,480 (GRCm39)	missense	probably damaging	1.00
Affable	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	1.00
Dotage	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
Endearing	UTSW	18	34,960,381 (GRCm39)	splice site	probably null
Oldtimer	UTSW	18	34,956,752 (GRCm39)	nonsense	probably null
PIT4382001:Kdm3b	UTSW	18	34,942,140 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Kdm3b	UTSW	18	34,926,168 (GRCm39)	nonsense	probably null
R0068:Kdm3b	UTSW	18	34,957,827 (GRCm39)	missense	probably benign	0.18
R0068:Kdm3b	UTSW	18	34,957,827 (GRCm39)	missense	probably benign	0.18
R0233:Kdm3b	UTSW	18	34,942,473 (GRCm39)	missense	probably damaging	0.97
R0265:Kdm3b	UTSW	18	34,928,716 (GRCm39)	splice site	probably benign
R0306:Kdm3b	UTSW	18	34,937,070 (GRCm39)	missense	probably benign	0.35
R0941:Kdm3b	UTSW	18	34,936,605 (GRCm39)	missense	probably damaging	0.99
R0970:Kdm3b	UTSW	18	34,942,092 (GRCm39)	missense	probably damaging	1.00
R1061:Kdm3b	UTSW	18	34,929,915 (GRCm39)	missense	probably damaging	1.00
R1104:Kdm3b	UTSW	18	34,952,864 (GRCm39)	missense	probably damaging	1.00
R1221:Kdm3b	UTSW	18	34,941,298 (GRCm39)	missense	possibly damaging	0.57
R1486:Kdm3b	UTSW	18	34,967,357 (GRCm39)	missense	probably damaging	1.00
R1523:Kdm3b	UTSW	18	34,926,226 (GRCm39)	critical splice donor site	probably null
R1558:Kdm3b	UTSW	18	34,942,149 (GRCm39)	missense	probably damaging	1.00
R1585:Kdm3b	UTSW	18	34,942,345 (GRCm39)	missense	probably damaging	1.00
R1601:Kdm3b	UTSW	18	34,941,784 (GRCm39)	missense	probably damaging	1.00
R1650:Kdm3b	UTSW	18	34,942,168 (GRCm39)	missense	possibly damaging	0.93
R1772:Kdm3b	UTSW	18	34,936,557 (GRCm39)	missense	probably benign	0.01
R1853:Kdm3b	UTSW	18	34,966,446 (GRCm39)	missense	probably damaging	1.00
R1934:Kdm3b	UTSW	18	34,946,597 (GRCm39)	missense	probably benign	0.04
R1959:Kdm3b	UTSW	18	34,945,448 (GRCm39)	missense	possibly damaging	0.55
R2079:Kdm3b	UTSW	18	34,936,570 (GRCm39)	missense	probably damaging	1.00
R2102:Kdm3b	UTSW	18	34,963,200 (GRCm39)	missense	probably damaging	1.00
R2121:Kdm3b	UTSW	18	34,929,833 (GRCm39)	splice site	probably benign
R2281:Kdm3b	UTSW	18	34,941,472 (GRCm39)	missense	probably damaging	1.00
R3719:Kdm3b	UTSW	18	34,941,724 (GRCm39)	missense	probably damaging	1.00
R3755:Kdm3b	UTSW	18	34,941,349 (GRCm39)	missense	probably benign
R3857:Kdm3b	UTSW	18	34,966,440 (GRCm39)	missense	probably benign
R4165:Kdm3b	UTSW	18	34,928,797 (GRCm39)	missense	probably benign	0.01
R4166:Kdm3b	UTSW	18	34,928,797 (GRCm39)	missense	probably benign	0.01
R4372:Kdm3b	UTSW	18	34,960,497 (GRCm39)	missense	probably benign	0.00
R4672:Kdm3b	UTSW	18	34,941,630 (GRCm39)	missense	probably benign
R4933:Kdm3b	UTSW	18	34,943,446 (GRCm39)	missense	probably damaging	1.00
R4969:Kdm3b	UTSW	18	34,955,428 (GRCm39)	missense	probably damaging	1.00
R5009:Kdm3b	UTSW	18	34,957,763 (GRCm39)	missense	probably benign	0.42
R5059:Kdm3b	UTSW	18	34,910,250 (GRCm39)	missense	possibly damaging	0.83
R5092:Kdm3b	UTSW	18	34,946,515 (GRCm39)	missense	probably benign	0.16
R5816:Kdm3b	UTSW	18	34,961,522 (GRCm39)	missense	probably damaging	0.99
R5970:Kdm3b	UTSW	18	34,962,342 (GRCm39)	missense	probably damaging	1.00
R6244:Kdm3b	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	1.00
R6705:Kdm3b	UTSW	18	34,952,926 (GRCm39)	missense	probably damaging	1.00
R6723:Kdm3b	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	0.99
R6909:Kdm3b	UTSW	18	34,960,381 (GRCm39)	splice site	probably null
R6958:Kdm3b	UTSW	18	34,941,336 (GRCm39)	missense	probably benign	0.00
R7026:Kdm3b	UTSW	18	34,955,517 (GRCm39)	missense	possibly damaging	0.90
R7289:Kdm3b	UTSW	18	34,927,557 (GRCm39)	missense	probably benign	0.00
R7488:Kdm3b	UTSW	18	34,957,934 (GRCm39)	missense	probably damaging	0.97
R7587:Kdm3b	UTSW	18	34,930,080 (GRCm39)	splice site	probably null
R7695:Kdm3b	UTSW	18	34,927,612 (GRCm39)	missense	possibly damaging	0.86
R7846:Kdm3b	UTSW	18	34,942,293 (GRCm39)	missense	possibly damaging	0.94
R7984:Kdm3b	UTSW	18	34,956,752 (GRCm39)	nonsense	probably null
R7997:Kdm3b	UTSW	18	34,941,336 (GRCm39)	missense	probably benign	0.00
R8035:Kdm3b	UTSW	18	34,941,781 (GRCm39)	missense	probably damaging	1.00
R8064:Kdm3b	UTSW	18	34,946,460 (GRCm39)	critical splice acceptor site	probably null
R8141:Kdm3b	UTSW	18	34,961,599 (GRCm39)	nonsense	probably null
R8302:Kdm3b	UTSW	18	34,967,388 (GRCm39)	missense	probably damaging	1.00
R8328:Kdm3b	UTSW	18	34,926,123 (GRCm39)	missense	probably damaging	1.00
R8443:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8513:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8515:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8523:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8717:Kdm3b	UTSW	18	34,952,840 (GRCm39)	missense	probably damaging	0.98
R8725:Kdm3b	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
R8727:Kdm3b	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
R8762:Kdm3b	UTSW	18	34,937,157 (GRCm39)	missense	probably benign
R8835:Kdm3b	UTSW	18	34,941,802 (GRCm39)	missense	probably damaging	1.00
R8918:Kdm3b	UTSW	18	34,970,650 (GRCm39)	missense	probably damaging	1.00
R9015:Kdm3b	UTSW	18	34,963,212 (GRCm39)	missense	probably damaging	1.00
R9144:Kdm3b	UTSW	18	34,927,558 (GRCm39)	missense	probably benign
R9246:Kdm3b	UTSW	18	34,941,480 (GRCm39)	nonsense	probably null
R9376:Kdm3b	UTSW	18	34,970,718 (GRCm39)	missense	probably damaging	0.99
X0028:Kdm3b	UTSW	18	34,932,319 (GRCm39)	splice site	probably null
X0067:Kdm3b	UTSW	18	34,956,570 (GRCm39)	missense	probably benign	0.00
Z1176:Kdm3b	UTSW	18	34,942,122 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTTAAGTCAGGGTCTCACTC -3'
(R):5'- TCCAACACTCTCGGAAGATCTTC -3'

Sequencing Primer
(F):5'- ACAAAAGGTTGAGGACTTTATGATAG -3'
(R):5'- GAAGATCTTCCAGTTATTTTTGTTGC -3'

Posted On

2016-07-06