Mutagenetix > Incidental Mutation

Incidental Mutation 'R1463:Dmbt1'

159227

Institutional Source

Beutler Lab

Gene Symbol

Dmbt1

Ensembl Gene

ENSMUSG00000047517

Gene Name

deleted in malignant brain tumors 1

Synonyms

CRP-[a], Crpd, gp300, vomeroglandin, CRP-[b], ebnerin, MUCLIN, hensin

MMRRC Submission

039517-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R1463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131032053-131121630 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 131109637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084509] [ENSMUST00000084509] [ENSMUST00000124096] [ENSMUST00000208311] [ENSMUST00000208311] [ENSMUST00000213064]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000084509

SMART Domains

Protein: ENSMUSP00000081556
Gene: ENSMUSG00000047517

Domain	Start	End	E-Value	Type
SR	37	137	5.54e-59	SMART
SR	186	286	3.6e-58	SMART
SR	324	424	1.21e-59	SMART
SR	463	563	2.97e-59	SMART
SR	602	702	3.36e-58	SMART
SR	741	841	5.17e-59	SMART
low complexity region	848	879	N/A	INTRINSIC
CUB	884	993	4.22e-41	SMART
CUB	1000	1109	7.35e-41	SMART
CUB	1126	1235	3.73e-42	SMART
CUB	1242	1351	2.02e-38	SMART
SR	1371	1471	3.92e-59	SMART
low complexity region	1476	1488	N/A	INTRINSIC
CUB	1494	1603	6.7e-44	SMART
ZP	1612	1860	8.11e-74	SMART
transmembrane domain	1906	1928	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000084509

SMART Domains

Protein: ENSMUSP00000081556
Gene: ENSMUSG00000047517

Domain	Start	End	E-Value	Type
SR	37	137	5.54e-59	SMART
SR	186	286	3.6e-58	SMART
SR	324	424	1.21e-59	SMART
SR	463	563	2.97e-59	SMART
SR	602	702	3.36e-58	SMART
SR	741	841	5.17e-59	SMART
low complexity region	848	879	N/A	INTRINSIC
CUB	884	993	4.22e-41	SMART
CUB	1000	1109	7.35e-41	SMART
CUB	1126	1235	3.73e-42	SMART
CUB	1242	1351	2.02e-38	SMART
SR	1371	1471	3.92e-59	SMART
low complexity region	1476	1488	N/A	INTRINSIC
CUB	1494	1603	6.7e-44	SMART
ZP	1612	1860	8.11e-74	SMART
transmembrane domain	1906	1928	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000208311

Predicted Effect

probably null
Transcript: ENSMUST00000208311

Predicted Effect

probably null
Transcript: ENSMUST00000213064

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for one null allele display embryonic lethality and an abnormal inner cell mass. Mice homozygous for a different null allele are viable and fertile with an increased susceptibility to induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,073		probably benign	Het
4931408C20Rik	G	T	1: 26,682,141	Y1319*	probably null	Het
Abca5	A	T	11: 110,314,558	I299N	probably damaging	Het
Abcc8	T	C	7: 46,154,512	T413A	probably benign	Het
Actc1	G	A	2: 114,049,529	S201F	probably damaging	Het
Adam30	G	A	3: 98,162,525	C558Y	probably damaging	Het
Adcy4	T	A	14: 55,778,939	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,510,596	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,930,151	M117L	probably benign	Het
AI597479	T	C	1: 43,113,229	V229A	probably damaging	Het
Ascc1	T	C	10: 60,062,516	V267A	probably benign	Het
Asxl3	A	G	18: 22,516,753	S600G	possibly damaging	Het
Atg14	T	C	14: 47,548,994	I268V	probably benign	Het
Bcas1	C	T	2: 170,418,664	V32I	probably benign	Het
Cacna1c	G	T	6: 118,593,994	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,379,054	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,406,446	T240M	probably damaging	Het
Cd163	A	G	6: 124,311,447	E279G	probably damaging	Het
Cdx2	C	T	5: 147,306,660	S108N	probably benign	Het
Cenpf	A	T	1: 189,654,739	N1781K	probably damaging	Het
Cgref1	T	A	5: 30,935,994		probably benign	Het
Clcn4	C	T	7: 7,296,764	W22*	probably null	Het
Cntn2	A	G	1: 132,521,137		probably null	Het
Cntn5	C	T	9: 9,673,796		probably null	Het
Cpeb3	A	G	19: 37,139,100	M377T	probably benign	Het
Cryge	T	A	1: 65,048,838	R135*	probably null	Het
Ctdsp2	C	A	10: 126,993,921		probably benign	Het
Ctsll3	G	A	13: 60,801,275		probably benign	Het
Cuzd1	C	A	7: 131,316,642	G189C	probably damaging	Het
Dnajc13	A	T	9: 104,178,940	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,816,325		probably null	Het
Dock6	T	C	9: 21,831,906	H701R	probably damaging	Het
Edem3	A	G	1: 151,807,510	T646A	possibly damaging	Het
Esrra	A	C	19: 6,912,455	D160E	probably benign	Het
Fbn2	T	C	18: 58,010,380	T2868A	probably benign	Het
Galnt7	T	A	8: 57,652,858	M41L	probably benign	Het
Gbf1	T	C	19: 46,271,545		probably benign	Het
Glyat	A	G	19: 12,648,103	N63S	probably damaging	Het
Gm9376	A	T	14: 118,267,482	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,366,720	V222A	probably damaging	Het
Ifna12	T	G	4: 88,602,956	D118A	possibly damaging	Het
Inpp5j	T	C	11: 3,501,147	M501V	probably benign	Het
Itpr3	C	T	17: 27,117,154		probably benign	Het
Ivns1abp	A	G	1: 151,361,540	N527S	probably benign	Het
Kif13a	T	C	13: 46,929,612	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,330,153	*748Q	probably null	Het
Klf8	C	T	X: 153,384,681	Q241*	probably null	Het
Kras	A	T	6: 145,225,061		probably benign	Het
Lamc3	C	A	2: 31,887,411	T23K	probably benign	Het
Lrrc74b	T	A	16: 17,559,873	H47L	probably benign	Het
Ly75	A	G	2: 60,368,757		probably null	Het
Map3k21	G	A	8: 125,942,137	G821S	probably benign	Het
Mettl14	A	G	3: 123,374,073		probably benign	Het
Mettl5	T	C	2: 69,885,246		probably benign	Het
Mier3	A	G	13: 111,711,755	D301G	probably damaging	Het
Mipep	T	C	14: 60,788,146		probably benign	Het
Mmp21	T	C	7: 133,675,859		probably null	Het
Msh4	A	G	3: 153,857,570	L723P	probably damaging	Het
Muc5b	T	C	7: 141,859,080	V1921A	unknown	Het
Myo1e	G	A	9: 70,338,756	E410K	possibly damaging	Het
Nav2	T	G	7: 49,535,962	I951S	probably damaging	Het
Npc1	G	A	18: 12,191,830	T1202I	probably damaging	Het
Olfr1441	C	T	19: 12,422,888	T193I	probably benign	Het
Olfr218	A	G	1: 173,203,367	K4E	probably benign	Het
Olfr324	A	G	11: 58,598,121	R242G	probably damaging	Het
Patl2	C	T	2: 122,123,735	V452M	probably benign	Het
Pcdh18	A	G	3: 49,755,405	V487A	probably damaging	Het
Pdzph1	C	T	17: 58,932,445	A963T	probably damaging	Het
Pkd1l1	C	T	11: 8,916,302	V518M	probably damaging	Het
Plcd3	A	G	11: 103,078,373	F256S	probably damaging	Het
Proc	T	C	18: 32,133,438	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,400,862		probably null	Het
Pth2r	A	T	1: 65,363,277	R312W	probably damaging	Het
Rbbp6	C	T	7: 122,992,453	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,146,520	E364G	probably damaging	Het
Rxrb	G	A	17: 34,034,160	C185Y	probably damaging	Het
Sept2	T	A	1: 93,499,315	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,138,710	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,255,116	F175S	probably benign	Het
Slc19a2	C	T	1: 164,257,197	H219Y	probably damaging	Het
Slfn9	A	T	11: 82,981,698	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,298	E144G	probably null	Het
Sp2	A	G	11: 96,963,456		probably benign	Het
Spag9	C	T	11: 94,116,837	L1117F	probably damaging	Het
Syndig1l	A	T	12: 84,680,363		probably benign	Het
Sypl	A	T	12: 32,974,333		probably benign	Het
Tmem169	T	C	1: 72,300,696	M95T	probably benign	Het
Tmem206	T	C	1: 191,328,289		probably benign	Het
Tnfrsf17	A	G	16: 11,315,202	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,827,515		probably benign	Het
Uap1	G	C	1: 170,150,383	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,446,557		probably benign	Het
Urb2	T	C	8: 124,030,908	V1118A	probably benign	Het
Usp54	T	C	14: 20,550,190	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,360,730	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,687,732	L75F	probably benign	Het
Wdr78	T	A	4: 103,087,418	L245F	possibly damaging	Het
Wisp1	T	A	15: 66,919,271	N307K	possibly damaging	Het
Yes1	T	A	5: 32,651,702	S137R	probably benign	Het
Zfp804b	A	G	5: 7,179,372		probably benign	Het

Other mutations in Dmbt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Dmbt1	APN	7	131079540	intron	probably benign
IGL00161:Dmbt1	APN	7	131109628	missense	probably damaging	1.00
IGL00331:Dmbt1	APN	7	131099290	missense	possibly damaging	0.46
IGL00769:Dmbt1	APN	7	131082500	missense	probably damaging	0.99
IGL00792:Dmbt1	APN	7	131097607	missense	possibly damaging	0.66
IGL00823:Dmbt1	APN	7	131058158	missense	probably benign	0.26
IGL01072:Dmbt1	APN	7	131085368	splice site	probably benign
IGL01317:Dmbt1	APN	7	131041191	missense	probably damaging	1.00
IGL01335:Dmbt1	APN	7	131088767	missense	possibly damaging	0.95
IGL01372:Dmbt1	APN	7	131103679	missense	possibly damaging	0.90
IGL01511:Dmbt1	APN	7	131116728	missense	possibly damaging	0.49
IGL01627:Dmbt1	APN	7	131081185	missense	probably benign	0.14
IGL01890:Dmbt1	APN	7	131074419	intron	probably benign
IGL02160:Dmbt1	APN	7	131082688	missense	probably damaging	1.00
IGL02186:Dmbt1	APN	7	131093256	splice site	probably benign
IGL02197:Dmbt1	APN	7	131085422	splice site	probably benign
IGL02332:Dmbt1	APN	7	131066613	intron	probably benign
IGL02427:Dmbt1	APN	7	131088085	splice site	probably null
IGL02726:Dmbt1	APN	7	131074410	intron	probably benign
IGL02967:Dmbt1	APN	7	131071189	missense	possibly damaging	0.70
IGL03003:Dmbt1	APN	7	131082679	missense	probably benign	0.05
IGL03089:Dmbt1	APN	7	131111049	missense	probably damaging	0.99
cavity	UTSW	7	131112236	missense	unknown
lacunar	UTSW	7	131097631	missense	probably damaging	0.97
BB005:Dmbt1	UTSW	7	131037890	missense	probably benign	0.16
BB015:Dmbt1	UTSW	7	131037890	missense	probably benign	0.16
H8562:Dmbt1	UTSW	7	131112076	nonsense	probably null
K3955:Dmbt1	UTSW	7	131119564	missense	probably damaging	0.98
R0051:Dmbt1	UTSW	7	131119496	missense	possibly damaging	0.79
R0051:Dmbt1	UTSW	7	131119496	missense	possibly damaging	0.79
R0257:Dmbt1	UTSW	7	131106393	missense	probably damaging	1.00
R0388:Dmbt1	UTSW	7	131096049	splice site	probably benign
R0427:Dmbt1	UTSW	7	131040902	nonsense	probably null
R0478:Dmbt1	UTSW	7	131041187	missense	possibly damaging	0.93
R0502:Dmbt1	UTSW	7	131097673	splice site	probably null
R0538:Dmbt1	UTSW	7	131049901	splice site	probably benign
R0626:Dmbt1	UTSW	7	131102081	missense	probably damaging	0.97
R0631:Dmbt1	UTSW	7	131097653	missense	possibly damaging	0.90
R0948:Dmbt1	UTSW	7	131093117	missense	possibly damaging	0.95
R1169:Dmbt1	UTSW	7	131074524	critical splice donor site	probably null
R1413:Dmbt1	UTSW	7	131050214	missense	probably damaging	1.00
R1458:Dmbt1	UTSW	7	131044487	splice site	probably benign
R1509:Dmbt1	UTSW	7	131074331	intron	probably benign
R1990:Dmbt1	UTSW	7	131058288	missense	probably damaging	0.98
R2018:Dmbt1	UTSW	7	131110989	missense	possibly damaging	0.93
R2019:Dmbt1	UTSW	7	131110989	missense	possibly damaging	0.93
R2042:Dmbt1	UTSW	7	131106359	missense	probably damaging	0.99
R2056:Dmbt1	UTSW	7	131106170	missense	possibly damaging	0.80
R2057:Dmbt1	UTSW	7	131106170	missense	possibly damaging	0.80
R2058:Dmbt1	UTSW	7	131106170	missense	possibly damaging	0.80
R2059:Dmbt1	UTSW	7	131106170	missense	possibly damaging	0.80
R2061:Dmbt1	UTSW	7	131099133	missense	possibly damaging	0.66
R2092:Dmbt1	UTSW	7	131050018	missense	probably damaging	1.00
R2102:Dmbt1	UTSW	7	131102032	missense	probably damaging	0.97
R2155:Dmbt1	UTSW	7	131097575	missense	possibly damaging	0.66
R2243:Dmbt1	UTSW	7	131046562	missense	probably benign	0.03
R2256:Dmbt1	UTSW	7	131090494	missense	probably benign	0.01
R2391:Dmbt1	UTSW	7	131106468	missense	probably damaging	1.00
R2394:Dmbt1	UTSW	7	131094734	nonsense	probably null
R3014:Dmbt1	UTSW	7	131032097	intron	probably benign
R3155:Dmbt1	UTSW	7	131050157	nonsense	probably null
R3176:Dmbt1	UTSW	7	131088071	missense	probably benign	0.19
R3276:Dmbt1	UTSW	7	131088071	missense	probably benign	0.19
R3442:Dmbt1	UTSW	7	131106249	missense	probably damaging	1.00
R3807:Dmbt1	UTSW	7	131112090	missense	possibly damaging	0.77
R4060:Dmbt1	UTSW	7	131074202	intron	probably benign
R4396:Dmbt1	UTSW	7	131116632	missense	probably damaging	0.98
R4453:Dmbt1	UTSW	7	131040934	missense	probably damaging	1.00
R5001:Dmbt1	UTSW	7	131050012	missense	probably damaging	1.00
R5051:Dmbt1	UTSW	7	131094742	missense	probably benign	0.01
R5156:Dmbt1	UTSW	7	131097670	critical splice donor site	probably null
R5225:Dmbt1	UTSW	7	131094735	missense	possibly damaging	0.84
R5281:Dmbt1	UTSW	7	131082619	missense	probably damaging	1.00
R5308:Dmbt1	UTSW	7	131041021	missense	probably damaging	1.00
R5447:Dmbt1	UTSW	7	131119511	missense	probably damaging	0.99
R5467:Dmbt1	UTSW	7	131040993	missense	probably damaging	1.00
R5497:Dmbt1	UTSW	7	131063403	intron	probably benign
R5526:Dmbt1	UTSW	7	131041190	missense	probably damaging	1.00
R5554:Dmbt1	UTSW	7	131099300	nonsense	probably null
R5566:Dmbt1	UTSW	7	131106273	missense	probably damaging	1.00
R5595:Dmbt1	UTSW	7	131054067	missense	probably benign	0.17
R6154:Dmbt1	UTSW	7	131109641	splice site	probably null
R6188:Dmbt1	UTSW	7	131097631	missense	probably damaging	0.97
R6214:Dmbt1	UTSW	7	131066733	missense	possibly damaging	0.95
R6215:Dmbt1	UTSW	7	131066733	missense	possibly damaging	0.95
R6391:Dmbt1	UTSW	7	131058254	missense	probably damaging	1.00
R6397:Dmbt1	UTSW	7	131103578	missense	possibly damaging	0.46
R6436:Dmbt1	UTSW	7	131116641	missense	probably benign	0.01
R6603:Dmbt1	UTSW	7	131046510	splice site	probably null
R6719:Dmbt1	UTSW	7	131119603	missense	possibly damaging	0.83
R6781:Dmbt1	UTSW	7	131046561	missense	probably benign	0.16
R7148:Dmbt1	UTSW	7	131066734	nonsense	probably null
R7191:Dmbt1	UTSW	7	131044520	missense	unknown
R7269:Dmbt1	UTSW	7	131066621	missense	unknown
R7288:Dmbt1	UTSW	7	131083789	nonsense	probably null
R7296:Dmbt1	UTSW	7	131112132	missense	unknown
R7349:Dmbt1	UTSW	7	131041124	missense	unknown
R7386:Dmbt1	UTSW	7	131112236	missense	unknown
R7428:Dmbt1	UTSW	7	131108463	missense	possibly damaging	0.53
R7481:Dmbt1	UTSW	7	131079511	critical splice acceptor site	probably null
R7486:Dmbt1	UTSW	7	131066462	missense	unknown
R7513:Dmbt1	UTSW	7	131090512	missense	unknown
R7553:Dmbt1	UTSW	7	131104867	missense	unknown
R7567:Dmbt1	UTSW	7	131061363	splice site	probably null
R7584:Dmbt1	UTSW	7	131088751	nonsense	probably null
R7736:Dmbt1	UTSW	7	131116896	missense	unknown
R7758:Dmbt1	UTSW	7	131121197	missense	unknown
R7928:Dmbt1	UTSW	7	131037890	missense	probably benign	0.16
R8080:Dmbt1	UTSW	7	131088770	missense	unknown
R8098:Dmbt1	UTSW	7	131108459	nonsense	probably null
R8125:Dmbt1	UTSW	7	131099223	missense	unknown
R8177:Dmbt1	UTSW	7	131106432	missense	possibly damaging	0.46
R8350:Dmbt1	UTSW	7	131085417	critical splice donor site	probably null
R8366:Dmbt1	UTSW	7	131066600	missense	unknown
R8378:Dmbt1	UTSW	7	131106465	missense	probably damaging	0.96
R8399:Dmbt1	UTSW	7	131082587	missense	unknown
R8400:Dmbt1	UTSW	7	131082587	missense	unknown
R8445:Dmbt1	UTSW	7	131090380	missense	unknown
R8450:Dmbt1	UTSW	7	131085417	critical splice donor site	probably null
R8511:Dmbt1	UTSW	7	131102012	missense	unknown
R8688:Dmbt1	UTSW	7	131058254	missense	unknown
R8850:Dmbt1	UTSW	7	131090404	missense	unknown
R8852:Dmbt1	UTSW	7	131041123	missense	unknown
R8871:Dmbt1	UTSW	7	131116868	missense	unknown
R8943:Dmbt1	UTSW	7	131119643	missense	possibly damaging	0.68
R8978:Dmbt1	UTSW	7	131037881	missense	possibly damaging	0.53
R9004:Dmbt1	UTSW	7	131112069	missense	unknown
R9020:Dmbt1	UTSW	7	131111058	missense	possibly damaging	0.86
R9088:Dmbt1	UTSW	7	131116689	missense	unknown
R9230:Dmbt1	UTSW	7	131037912	missense	probably benign	0.01
R9304:Dmbt1	UTSW	7	131099125	missense	unknown
R9377:Dmbt1	UTSW	7	131093102	missense	unknown
R9428:Dmbt1	UTSW	7	131066478	missense	unknown
R9474:Dmbt1	UTSW	7	131074257	missense	unknown
R9573:Dmbt1	UTSW	7	131056180	critical splice donor site	probably null
R9675:Dmbt1	UTSW	7	131110923	missense	probably damaging	0.98
R9689:Dmbt1	UTSW	7	131058285	missense	unknown
R9781:Dmbt1	UTSW	7	131037869	missense	probably benign	0.00
X0024:Dmbt1	UTSW	7	131112248	nonsense	probably null
X0062:Dmbt1	UTSW	7	131094851	missense	possibly damaging	0.81
Z1176:Dmbt1	UTSW	7	131088812	missense	unknown
Z1177:Dmbt1	UTSW	7	131082485	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCAGGGCCAGGCTAACTTTTATTG -3'
(R):5'- TGTGATCTTGCACAGATTCACCGC -3'

Sequencing Primer
(F):5'- CAGGCTAACTTTTATTGGGTTCC -3'
(R):5'- ACAGATTCACCGCCTTCC -3'

Posted On

2014-03-14