Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Mnx1'

670987

Institutional Source

Beutler Lab

Gene Symbol

Mnx1

Ensembl Gene

ENSMUSG00000001566

Gene Name

motor neuron and pancreas homeobox 1

Synonyms

HB9, MNR2, Hlxb9

MMRRC Submission

068635-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29678821-29683468 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 29683372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001608] [ENSMUST00000165512]

AlphaFold

Q9QZW9

Predicted Effect

probably benign
Transcript: ENSMUST00000001608

SMART Domains

Protein: ENSMUSP00000001608
Gene: ENSMUSG00000001566

Domain	Start	End	E-Value	Type
low complexity region	39	64	N/A	INTRINSIC
low complexity region	90	158	N/A	INTRINSIC
low complexity region	168	176	N/A	INTRINSIC
HOX	241	303	1.39e-25	SMART
low complexity region	346	366	N/A	INTRINSIC
low complexity region	380	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165512

SMART Domains

Protein: ENSMUSP00000129503
Gene: ENSMUSG00000001566

Domain	Start	End	E-Value	Type
low complexity region	39	64	N/A	INTRINSIC
low complexity region	90	158	N/A	INTRINSIC
low complexity region	168	176	N/A	INTRINSIC
HOX	241	303	1.39e-25	SMART
low complexity region	346	366	N/A	INTRINSIC
low complexity region	380	392	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice die at birth exhibiting pancreas dorsal lobe agenesis, small pancreatic islets, and aberrant beta-cell function and motor axon guidance. Mice homozygous for other reporter/null alleles show neonatal death, atelectasis, and impaired motor neuron and pancreas differentiation. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(5)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,793,697 (GRCm39)	I382T	probably damaging	Het
Adam39	G	T	8: 41,279,613 (GRCm39)	R668L	probably benign	Het
Adam6b	T	C	12: 113,455,310 (GRCm39)	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,836,522 (GRCm39)	E692G	probably damaging	Het
Asxl2	T	C	12: 3,546,536 (GRCm39)	L440P	probably benign	Het
Atosb	G	A	4: 43,033,546 (GRCm39)	P536S	probably damaging	Het
Bmf	A	G	2: 118,377,386 (GRCm39)	F121L	probably damaging	Het
Cblif	C	A	19: 11,727,599 (GRCm39)	A141E	probably damaging	Het
Cdk9	A	T	2: 32,598,269 (GRCm39)	F262L	probably benign	Het
Clock	T	A	5: 76,410,574 (GRCm39)	D99V	probably damaging	Het
Dnah14	A	T	1: 181,642,189 (GRCm39)	T102S		Het
Eps15	T	C	4: 109,162,908 (GRCm39)	V67A	probably benign	Het
Fam171b	T	A	2: 83,643,103 (GRCm39)	L4H	probably damaging	Het
Fcho2	T	A	13: 98,951,769 (GRCm39)		probably benign	Het
Gal3st4	C	T	5: 138,269,251 (GRCm39)	V70M	probably damaging	Het
Garin2	C	T	12: 78,761,924 (GRCm39)	T196M	probably damaging	Het
Got1l1	C	A	8: 27,690,749 (GRCm39)		probably null	Het
Gpr146	A	G	5: 139,378,549 (GRCm39)	Y117C	probably damaging	Het
Gpr158	G	A	2: 21,558,137 (GRCm39)	V346M	probably damaging	Het
Herc1	C	A	9: 66,372,768 (GRCm39)	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,890,226 (GRCm39)	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,835,104 (GRCm39)		probably benign	Het
Ift70a1	C	A	2: 75,811,898 (GRCm39)	E62*	probably null	Het
Lama4	T	G	10: 38,924,048 (GRCm39)	I485M	probably benign	Het
Lrp4	C	T	2: 91,325,300 (GRCm39)	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,463,549 (GRCm39)	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,821,773 (GRCm39)	Q692*	probably null	Het
Mark2	G	T	19: 7,258,580 (GRCm39)	H570N	probably benign	Het
Mlph	T	C	1: 90,870,682 (GRCm39)		probably benign	Het
Nkx2-2	A	T	2: 147,019,813 (GRCm39)	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,050,919 (GRCm39)	I1058V	probably benign	Het
Nwd2	T	C	5: 63,963,047 (GRCm39)	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,508,669 (GRCm39)	N509I	possibly damaging	Het
Or1e27-ps1	T	C	11: 73,555,471 (GRCm39)	L12P	probably damaging	Het
Or4c121	T	C	2: 89,024,231 (GRCm39)	Y49C	probably benign	Het
Or4f14b	G	C	2: 111,775,073 (GRCm39)	H243D	probably damaging	Het
Pabpc6	T	C	17: 9,888,332 (GRCm39)	N73S	probably damaging	Het
Parp12	A	G	6: 39,065,984 (GRCm39)	F580L	probably benign	Het
Parvg	C	A	15: 84,213,160 (GRCm39)	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,582,541 (GRCm39)	V549A	probably damaging	Het
Pde8b	T	A	13: 95,179,534 (GRCm39)	H374L	probably benign	Het
Pgap4	T	C	4: 49,587,067 (GRCm39)	T34A	possibly damaging	Het
Phf2	C	T	13: 48,970,981 (GRCm39)		probably benign	Het
Pld4	T	C	12: 112,729,924 (GRCm39)	F69L	probably benign	Het
Qrich2	T	C	11: 116,347,456 (GRCm39)	I1123V	unknown	Het
Rida	C	T	15: 34,495,242 (GRCm39)	V8M	possibly damaging	Het
Rnf19b	T	A	4: 128,952,478 (GRCm39)	C139S	probably damaging	Het
Rp1	T	C	1: 4,095,091 (GRCm39)	I1254M	unknown	Het
Rpl3l	A	G	17: 24,947,447 (GRCm39)	T2A	possibly damaging	Het
Serpinb6e	A	T	13: 34,022,942 (GRCm39)	I147N	possibly damaging	Het
Slc12a4	G	A	8: 106,673,390 (GRCm39)	T727I	probably damaging	Het
Slc25a16	C	T	10: 62,764,119 (GRCm39)	R59*	probably null	Het
Strc	T	A	2: 121,208,286 (GRCm39)	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tll1	T	A	8: 64,538,499 (GRCm39)	T382S	probably damaging	Het
Tmprss6	T	A	15: 78,328,328 (GRCm39)	D556V	probably damaging	Het
Ttc13	A	G	8: 125,401,099 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,767,244 (GRCm39)	K709*	probably null	Het
Vcan	A	T	13: 89,840,230 (GRCm39)	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,659,669 (GRCm39)	I81V	probably benign	Het
Zxdc	A	G	6: 90,346,986 (GRCm39)	T116A	probably benign	Het

Other mutations in Mnx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01602:Mnx1	APN	5	29,682,591 (GRCm39)	missense	unknown
IGL01605:Mnx1	APN	5	29,682,591 (GRCm39)	missense	unknown
3370:Mnx1	UTSW	5	29,679,885 (GRCm39)	missense	unknown
PIT4472001:Mnx1	UTSW	5	29,679,105 (GRCm39)	missense	unknown
R1752:Mnx1	UTSW	5	29,682,727 (GRCm39)	missense	unknown
R1785:Mnx1	UTSW	5	29,679,187 (GRCm39)	missense	unknown
R1786:Mnx1	UTSW	5	29,679,187 (GRCm39)	missense	unknown
R1854:Mnx1	UTSW	5	29,682,780 (GRCm39)	missense	unknown
R1866:Mnx1	UTSW	5	29,679,043 (GRCm39)	missense	unknown
R1893:Mnx1	UTSW	5	29,682,828 (GRCm39)	missense	unknown
R1899:Mnx1	UTSW	5	29,678,955 (GRCm39)	missense	unknown
R2131:Mnx1	UTSW	5	29,679,187 (GRCm39)	missense	unknown
R4698:Mnx1	UTSW	5	29,679,057 (GRCm39)	missense	unknown
R4713:Mnx1	UTSW	5	29,683,129 (GRCm39)	missense	probably damaging	1.00
R5171:Mnx1	UTSW	5	29,679,851 (GRCm39)	missense	unknown
R6126:Mnx1	UTSW	5	29,683,110 (GRCm39)	missense	possibly damaging	0.94
R7427:Mnx1	UTSW	5	29,679,211 (GRCm39)	missense	unknown
Z1176:Mnx1	UTSW	5	29,679,172 (GRCm39)	nonsense	probably null
Z1176:Mnx1	UTSW	5	29,679,086 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGATACTGTAGTCGCGAGG -3'
(R):5'- GTCGCTTGAGCTCTTGAGAG -3'

Sequencing Primer
(F):5'- TACTGTAGTCGCGAGGGAAGTG -3'
(R):5'- TCATACCAGTGAGTGGAG -3'

Posted On

2021-04-30