Mutagenetix > Incidental Mutation

Incidental Mutation 'RF053:Mamld1'

605195

Institutional Source

Beutler Lab

Gene Symbol

Mamld1

Ensembl Gene

ENSMUSG00000059401

Gene Name

mastermind-like domain containing 1

Synonyms

G630014P10Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

RF053 (G1)

Quality Score

176.468

Status

Not validated

Chromosome

Chromosomal Location

70093846-70199662 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CA to CAGAA at 70162458 bp (GRCm39)

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: 99.3%
20x: 98.6%

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: 20 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,891,294 (GRCm39)	probably benign	Het
Abra	TGGC	T	15: 41,729,695 (GRCm39)	probably benign	Het
Blm	CTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTC	7: 80,162,669 (GRCm39)	probably benign	Het
Bmp5	TGAGGAG	T	9: 75,683,656 (GRCm39)	probably benign	Het
Cngb1	GGCTCTGGCTCTGGCTCTGGCTCTG	GG	8: 96,030,276 (GRCm39)	probably null	Het
Cyb5r4	GGATGTGACAGACACACTGCCCAG	GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG	9: 86,922,475 (GRCm39)	probably benign	Het
Ehbp1l1	TCACACCACC	T	19: 5,766,030 (GRCm39)	probably benign	Het
Kdm3a	TTTTT	TTTTTT	6: 71,609,033 (GRCm39)	probably benign	Het
Krtap28-10	CAGCCACCACAGC	CAGCCACCACAGCCAAAGCCACCACAGC	1: 83,019,999 (GRCm39)	probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,771 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,414 (GRCm39)	probably benign	Het
Nefh	GACTTGGCCTCACCT	GACTTGGCCTCACCTCACCACTTGGCCTCACCT	11: 4,891,014 (GRCm39)	probably null	Het
Polr1has	CACCAC	CACCACCACCACCACCACCTCTACCAC	17: 37,275,958 (GRCm39)	probably benign	Het
Rap1gds1	TCATTTATTATGACCATAC	TC	3: 138,647,418 (GRCm39)	probably null	Het
Tcof1	C	CAGA	18: 60,968,819 (GRCm39)	probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,039 (GRCm39)	probably benign	Het
Trappc9	TGCT	TGCTGCTGCTGCTGCGGCT	15: 72,673,177 (GRCm39)	probably benign	Het
Usp2	C	CTCATGTGACCTGTTCTTCACTTAA	9: 44,000,426 (GRCm39)	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,899,735 (GRCm39)	probably benign	Het
Zfp69	GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC	GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC	4: 120,804,544 (GRCm39)	probably benign	Het

Other mutations in Mamld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02484:Mamld1	APN	X	70,162,258 (GRCm39)	missense	possibly damaging	0.93
FR4340:Mamld1	UTSW	X	70,162,452 (GRCm39)	small insertion	probably benign
FR4737:Mamld1	UTSW	X	70,162,445 (GRCm39)	small insertion	probably benign
FR4737:Mamld1	UTSW	X	70,162,441 (GRCm39)	small insertion	probably benign
FR4976:Mamld1	UTSW	X	70,162,424 (GRCm39)	small insertion	probably benign
FR4976:Mamld1	UTSW	X	70,162,418 (GRCm39)	small insertion	probably benign
R2133:Mamld1	UTSW	X	70,162,998 (GRCm39)	missense	probably benign	0.00
R2277:Mamld1	UTSW	X	70,162,421 (GRCm39)	small deletion	probably benign
RF003:Mamld1	UTSW	X	70,162,426 (GRCm39)	small insertion	probably benign
RF004:Mamld1	UTSW	X	70,162,437 (GRCm39)	nonsense	probably null
RF014:Mamld1	UTSW	X	70,162,451 (GRCm39)	small insertion	probably benign
RF015:Mamld1	UTSW	X	70,162,447 (GRCm39)	small insertion	probably benign
RF015:Mamld1	UTSW	X	70,162,426 (GRCm39)	small insertion	probably benign
RF018:Mamld1	UTSW	X	70,162,455 (GRCm39)	small insertion	probably benign
RF022:Mamld1	UTSW	X	70,162,426 (GRCm39)	small insertion	probably benign
RF025:Mamld1	UTSW	X	70,162,432 (GRCm39)	small insertion	probably benign
RF030:Mamld1	UTSW	X	70,162,434 (GRCm39)	nonsense	probably null
RF033:Mamld1	UTSW	X	70,162,439 (GRCm39)	small insertion	probably benign
RF034:Mamld1	UTSW	X	70,162,441 (GRCm39)	small insertion	probably benign
RF035:Mamld1	UTSW	X	70,162,456 (GRCm39)	small insertion	probably benign
RF035:Mamld1	UTSW	X	70,162,418 (GRCm39)	small insertion	probably benign
RF035:Mamld1	UTSW	X	70,162,444 (GRCm39)	small insertion	probably benign
RF036:Mamld1	UTSW	X	70,162,434 (GRCm39)	small insertion	probably benign
RF036:Mamld1	UTSW	X	70,162,441 (GRCm39)	small insertion	probably benign
RF036:Mamld1	UTSW	X	70,162,446 (GRCm39)	small insertion	probably benign
RF038:Mamld1	UTSW	X	70,162,452 (GRCm39)	small insertion	probably benign
RF039:Mamld1	UTSW	X	70,162,446 (GRCm39)	small insertion	probably benign
RF039:Mamld1	UTSW	X	70,162,432 (GRCm39)	small insertion	probably benign
RF040:Mamld1	UTSW	X	70,162,420 (GRCm39)	small insertion	probably benign
RF041:Mamld1	UTSW	X	70,162,435 (GRCm39)	small insertion	probably benign
RF041:Mamld1	UTSW	X	70,162,432 (GRCm39)	small insertion	probably benign
RF042:Mamld1	UTSW	X	70,162,459 (GRCm39)	small insertion	probably benign
RF042:Mamld1	UTSW	X	70,162,418 (GRCm39)	small insertion	probably benign
RF043:Mamld1	UTSW	X	70,162,441 (GRCm39)	small insertion	probably benign
RF047:Mamld1	UTSW	X	70,162,445 (GRCm39)	small insertion	probably benign
RF048:Mamld1	UTSW	X	70,162,458 (GRCm39)	nonsense	probably null
RF049:Mamld1	UTSW	X	70,162,451 (GRCm39)	small insertion	probably benign
RF049:Mamld1	UTSW	X	70,162,439 (GRCm39)	small insertion	probably benign
RF055:Mamld1	UTSW	X	70,162,443 (GRCm39)	small insertion	probably benign
RF059:Mamld1	UTSW	X	70,162,438 (GRCm39)	small insertion	probably benign
RF060:Mamld1	UTSW	X	70,162,438 (GRCm39)	small insertion	probably benign
RF060:Mamld1	UTSW	X	70,162,437 (GRCm39)	nonsense	probably null
RF061:Mamld1	UTSW	X	70,162,456 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GATATCTGCTCTGCCTACCAG -3'
(R):5'- AGACATGGAGGCCATCTTCTG -3'

Sequencing Primer
(F):5'- GCTCTGCCTACCAGCACCC -3'
(R):5'- TGGGGGCTTGGCTCAGAAAC -3'

Posted On

2019-12-04