Mutagenetix > Incidental Mutation

Incidental Mutation 'RF014:Mamld1'

603450

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 #

RF014 (G1)

Quality Score

180.468

Status

Not validated

Chromosome

Chromosomal Location

70093846-70199662 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCACCA at 70162451 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: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,820 (GRCm39)		probably benign	Het
A2ml1	T	C	6: 128,547,031 (GRCm39)	N366S	probably damaging	Het
Abca5	T	C	11: 110,170,580 (GRCm39)		probably null	Het
Acaca	T	C	11: 84,122,550 (GRCm39)	V323A	probably benign	Het
Agbl3	T	A	6: 34,776,293 (GRCm39)	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,507,276 (GRCm39)	S170T	possibly damaging	Het
Amhr2	A	T	15: 102,361,589 (GRCm39)	S467C	probably benign	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 108,999,348 (GRCm39)		probably benign	Het
Best3	A	T	10: 116,840,410 (GRCm39)	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,129,704 (GRCm39)		probably benign	Het
Ccdc186	A	G	19: 56,801,904 (GRCm39)	L71S	probably benign	Het
Ces1d	C	A	8: 93,902,793 (GRCm39)		probably null	Het
Chga	AGC	AGCGGC	12: 102,527,652 (GRCm39)		probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,664 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,436,225 (GRCm39)	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 129,986,860 (GRCm39)		probably benign	Het
Cpxm2	G	T	7: 131,672,592 (GRCm39)	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,286,760 (GRCm39)	S3364P	probably benign	Het
Edc4	C	T	8: 106,611,232 (GRCm39)	T61M	probably benign	Het
Fndc5	A	G	4: 129,035,960 (GRCm39)	H199R	probably benign	Het
Gm43302	T	A	5: 105,422,623 (GRCm39)	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,812,270 (GRCm39)		probably benign	Het
Irf9	C	T	14: 55,843,334 (GRCm39)	R179*	probably null	Het
Jakmip1	A	T	5: 37,331,870 (GRCm39)	K850M	possibly damaging	Het
Kalrn	G	A	16: 33,860,303 (GRCm39)	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,019,972 (GRCm39)		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 94,984,263 (GRCm39)		probably benign	Het
Lctl	A	G	9: 64,026,212 (GRCm39)	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,450,665 (GRCm39)		probably benign	Het
Luzp2	A	T	7: 54,821,953 (GRCm39)	I157F	probably damaging	Het
Lyz3	A	G	10: 117,070,322 (GRCm39)	*152Q	probably null	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Mbd3l1	A	T	9: 18,396,296 (GRCm39)	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,314,803 (GRCm39)	Q461L	probably benign	Het
Mto1	G	T	9: 78,355,598 (GRCm39)	R7L	probably benign	Het
Muc4	A	T	16: 32,570,676 (GRCm39)	S579C	probably damaging	Het
Ngfr	T	C	11: 95,469,027 (GRCm39)	Y117C	probably damaging	Het
Or10aa3	A	T	1: 173,878,553 (GRCm39)	I205F	possibly damaging	Het
Or13a23-ps1	A	T	7: 140,118,690 (GRCm39)	M87L	probably benign	Het
Or8d2b	C	A	9: 38,789,196 (GRCm39)	H241Q	probably benign	Het
Plch2	A	G	4: 155,091,577 (GRCm39)	S179P	probably damaging	Het
Pogz	T	G	3: 94,785,558 (GRCm39)	S838A	possibly damaging	Het
Polr1has	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 37,275,952 (GRCm39)		probably benign	Het
Pot1b	T	A	17: 55,981,106 (GRCm39)	T303S	probably benign	Het
Pou2f2	T	A	7: 24,815,162 (GRCm39)	I72L	unknown	Het
Ptpn4	A	G	1: 119,612,195 (GRCm39)		probably null	Het
Ptprs	A	T	17: 56,723,935 (GRCm39)	I1686N	probably damaging	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf14	T	A	18: 38,442,623 (GRCm39)	V308E	probably damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,518 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,439 (GRCm39)	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Spmap2l	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,164,247 (GRCm39)		probably benign	Het
Stox1	T	A	10: 62,500,025 (GRCm39)	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)		probably benign	Het
Trim33	T	C	3: 103,236,408 (GRCm39)	V506A	possibly damaging	Het
Uckl1	T	C	2: 181,211,987 (GRCm39)	D373G	probably benign	Het
Vmn2r94	G	T	17: 18,473,549 (GRCm39)	C492*	probably null	Het
Wdr33	A	G	18: 32,014,326 (GRCm39)	D396G	probably damaging	Het
Ypel1	C	T	16: 16,915,282 (GRCm39)	V109M	probably damaging	Het
Zbtb11	A	T	16: 55,800,960 (GRCm39)	I105L	probably damaging	Het
Zbtb40	A	T	4: 136,744,617 (GRCm39)	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,156,518 (GRCm39)	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,013,429 (GRCm39)		probably benign	Het
Zfp87	A	G	13: 74,523,173 (GRCm39)	F15S	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
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
RF053:Mamld1	UTSW	X	70,162,458 (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'- GATATCTGCTCTGCCTACCAGC -3'
(R):5'- ACATGGAGGCCATCTTCTGG -3'

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

Posted On

2019-12-04