Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Mamld1'

604940

Institutional Source

Beutler Lab

Gene Symbol

Mamld1

Ensembl Gene

ENSMUSG00000059401

Gene Name

mastermind-like domain containing 1

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

RF043 (G1)

Quality Score

206.468

Status

Not validated

Chromosome

Chromosomal Location

71050256-71156056 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

AGC to AGCTGC at 71118835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082088] [ENSMUST00000114629]

AlphaFold

P0C6A2

Predicted Effect

probably benign
Transcript: ENSMUST00000082088

SMART Domains

Protein: ENSMUSP00000080737
Gene: ENSMUSG00000059401

Domain	Start	End	E-Value	Type
low complexity region	153	163	N/A	INTRINSIC
low complexity region	241	257	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
internal_repeat_1	363	414	3.74e-7	PROSPERO
internal_repeat_1	418	466	3.74e-7	PROSPERO
low complexity region	571	588	N/A	INTRINSIC
low complexity region	592	637	N/A	INTRINSIC
low complexity region	643	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114629

SMART Domains

Protein: ENSMUSP00000110276
Gene: ENSMUSG00000059401

Domain	Start	End	E-Value	Type
low complexity region	153	163	N/A	INTRINSIC
low complexity region	241	257	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
internal_repeat_1	363	414	2.31e-7	PROSPERO
internal_repeat_1	418	466	2.31e-7	PROSPERO
low complexity region	571	588	N/A	INTRINSIC
low complexity region	592	637	N/A	INTRINSIC
low complexity region	643	658	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice exhibit normal male genitalia and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,272,561		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,560,917		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,411		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 87,040,431		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,583,697		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Emid1	G	T	11: 5,144,322	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 72,270,048		probably benign	Het
Gar1	AACTGCC	A	3: 129,830,688		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,089,459		probably null	Het
Hic1	GGGA	G	11: 75,169,455		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,570,613		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,634,721		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,640,509		probably null	Het
Lrch1	TGGTGGTG	T	14: 74,947,575		probably null	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,390,243		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 48,021,509		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,941,016		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,627,592		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,110,250		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,914,448		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,608,932		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,836		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,314,014		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,149,395		probably benign	Het
Sgpp1	ACACAC	A	12: 75,722,625		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,614,870		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846		probably benign	Het
Stard8	GGA	GGATGA	X: 99,066,520		probably benign	Het
Stard8	GA	GAGCA	X: 99,066,527		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,061,596		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,305		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het

Other mutations in Mamld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02484:Mamld1	APN	X	71118652	missense	possibly damaging	0.93
FR4340:Mamld1	UTSW	X	71118846	small insertion	probably benign
FR4737:Mamld1	UTSW	X	71118835	small insertion	probably benign
FR4737:Mamld1	UTSW	X	71118839	small insertion	probably benign
FR4976:Mamld1	UTSW	X	71118812	small insertion	probably benign
FR4976:Mamld1	UTSW	X	71118818	small insertion	probably benign
R2133:Mamld1	UTSW	X	71119392	missense	probably benign	0.00
R2277:Mamld1	UTSW	X	71118815	small deletion	probably benign
RF003:Mamld1	UTSW	X	71118820	small insertion	probably benign
RF004:Mamld1	UTSW	X	71118831	nonsense	probably null
RF014:Mamld1	UTSW	X	71118845	small insertion	probably benign
RF015:Mamld1	UTSW	X	71118820	small insertion	probably benign
RF015:Mamld1	UTSW	X	71118841	small insertion	probably benign
RF018:Mamld1	UTSW	X	71118849	small insertion	probably benign
RF022:Mamld1	UTSW	X	71118820	small insertion	probably benign
RF025:Mamld1	UTSW	X	71118826	small insertion	probably benign
RF030:Mamld1	UTSW	X	71118828	nonsense	probably null
RF033:Mamld1	UTSW	X	71118833	small insertion	probably benign
RF034:Mamld1	UTSW	X	71118835	small insertion	probably benign
RF035:Mamld1	UTSW	X	71118812	small insertion	probably benign
RF035:Mamld1	UTSW	X	71118838	small insertion	probably benign
RF035:Mamld1	UTSW	X	71118850	small insertion	probably benign
RF036:Mamld1	UTSW	X	71118828	small insertion	probably benign
RF036:Mamld1	UTSW	X	71118835	small insertion	probably benign
RF036:Mamld1	UTSW	X	71118840	small insertion	probably benign
RF038:Mamld1	UTSW	X	71118846	small insertion	probably benign
RF039:Mamld1	UTSW	X	71118826	small insertion	probably benign
RF039:Mamld1	UTSW	X	71118840	small insertion	probably benign
RF040:Mamld1	UTSW	X	71118814	small insertion	probably benign
RF041:Mamld1	UTSW	X	71118826	small insertion	probably benign
RF041:Mamld1	UTSW	X	71118829	small insertion	probably benign
RF042:Mamld1	UTSW	X	71118812	small insertion	probably benign
RF042:Mamld1	UTSW	X	71118853	small insertion	probably benign
RF047:Mamld1	UTSW	X	71118839	small insertion	probably benign
RF048:Mamld1	UTSW	X	71118852	nonsense	probably null
RF049:Mamld1	UTSW	X	71118833	small insertion	probably benign
RF049:Mamld1	UTSW	X	71118845	small insertion	probably benign
RF053:Mamld1	UTSW	X	71118852	small insertion	probably benign
RF055:Mamld1	UTSW	X	71118837	small insertion	probably benign
RF059:Mamld1	UTSW	X	71118832	small insertion	probably benign
RF060:Mamld1	UTSW	X	71118831	nonsense	probably null
RF060:Mamld1	UTSW	X	71118832	small insertion	probably benign
RF061:Mamld1	UTSW	X	71118850	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGTCAAAAGCCCTCAAGGAC -3'
(R):5'- GGCTTGGCTCAGAAACAAAATG -3'

Sequencing Primer
(F):5'- AAGGACACCTGATATCTGCTCTG -3'
(R):5'- AAAATGTGACAAGGGCTTGGTGTTG -3'

Posted On

2019-12-04