Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Mamld1'

604345

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 #

RF030 (G1)

Quality Score

214.468

Status

Not validated

Chromosome

Chromosomal Location

71050256-71156056 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

CAG to CAGTAG at 71118828 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 null
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 null
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: 99.5%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,425,226		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,235		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,560,913		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,560,927		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 20,943,900		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,386,848		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,141,253		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,502,722		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,500,869		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,409		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,767,182		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 156,045,529		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gab3	CTTTT	CT	X: 74,999,977		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,005		probably benign	Het
Gab3	TCT	TCTCCT	X: 75,000,008		probably benign	Het
Gab3	TTC	TTCGTC	X: 75,000,025		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,026		probably benign	Het
Gm35339	AGGAGGAGG	AG	15: 76,363,165		probably null	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,427,156		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,408,641		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,459,034		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647		probably benign	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,586,377		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 93,018,141		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 93,018,344		probably benign	Het
Lrmp	ATTG	ATTGAGCACGTTG	6: 145,173,788		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,306,311		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,306,317		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,989		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,076,111		probably null	Het
Pdik1l	C	CCACCAA	4: 134,279,516		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,558,502		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,858,480		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,301		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,785,311		probably benign	Het
Six5	CGGA	C	7: 19,094,800		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,833,568		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,833,574		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,835,723		probably benign	Het
Tfeb	AGC	AGCCGC	17: 47,786,111		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,113		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Thegl	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,016,401		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,801,325		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,560,067		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	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	71118839	small insertion	probably benign
FR4737:Mamld1	UTSW	X	71118835	small insertion	probably benign
FR4976:Mamld1	UTSW	X	71118818	small insertion	probably benign
FR4976:Mamld1	UTSW	X	71118812	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	71118841	small insertion	probably benign
RF015:Mamld1	UTSW	X	71118820	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
RF033:Mamld1	UTSW	X	71118833	small insertion	probably benign
RF034:Mamld1	UTSW	X	71118835	small insertion	probably benign
RF035:Mamld1	UTSW	X	71118850	small insertion	probably benign
RF035:Mamld1	UTSW	X	71118838	small insertion	probably benign
RF035:Mamld1	UTSW	X	71118812	small insertion	probably benign
RF036:Mamld1	UTSW	X	71118835	small insertion	probably benign
RF036:Mamld1	UTSW	X	71118840	small insertion	probably benign
RF036:Mamld1	UTSW	X	71118828	small insertion	probably benign
RF038:Mamld1	UTSW	X	71118846	small insertion	probably benign
RF039:Mamld1	UTSW	X	71118840	small insertion	probably benign
RF039:Mamld1	UTSW	X	71118826	small insertion	probably benign
RF040:Mamld1	UTSW	X	71118814	small insertion	probably benign
RF041:Mamld1	UTSW	X	71118829	small insertion	probably benign
RF041:Mamld1	UTSW	X	71118826	small insertion	probably benign
RF042:Mamld1	UTSW	X	71118853	small insertion	probably benign
RF042:Mamld1	UTSW	X	71118812	small insertion	probably benign
RF043:Mamld1	UTSW	X	71118835	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	71118845	small insertion	probably benign
RF049:Mamld1	UTSW	X	71118833	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	71118832	small insertion	probably benign
RF060:Mamld1	UTSW	X	71118831	nonsense	probably null
RF061:Mamld1	UTSW	X	71118850	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GATATCTGCTCTGCCTACCAGC -3'
(R):5'- GACATGGAGGCCATCTTCTG -3'

Sequencing Primer
(F):5'- TACCAGCACCCCAGGGC -3'
(R):5'- CTTGGCTCAGAAACAAAATGTGAC -3'

Posted On

2019-12-04