Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Midn'

250679

Institutional Source

Beutler Lab

Gene Symbol

Midn

Ensembl Gene

ENSMUSG00000035621

Gene Name

midnolin

Synonyms

3000003C15Rik

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79984106-79994202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79986144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 78 (D78G)

Ref Sequence

ENSEMBL: ENSMUSP00000097091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003156] [ENSMUST00000042057] [ENSMUST00000099492] [ENSMUST00000105366] [ENSMUST00000105367] [ENSMUST00000144526] [ENSMUST00000151202] [ENSMUST00000146516] [ENSMUST00000153477]

AlphaFold

Q3TPJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000003156

SMART Domains

Protein: ENSMUSP00000003156
Gene: ENSMUSG00000003072

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:ATP-synt_DE_N	38	119	2.2e-21	PFAM
low complexity region	144	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042057
AA Change: D78G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046967
Gene: ENSMUSG00000035621
AA Change: D78G

Domain	Start	End	E-Value	Type
UBQ	32	102	3.39e-7	SMART
low complexity region	130	143	N/A	INTRINSIC
low complexity region	197	211	N/A	INTRINSIC
low complexity region	238	262	N/A	INTRINSIC
low complexity region	283	302	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	434	453	N/A	INTRINSIC
low complexity region	465	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099492
AA Change: D78G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097091
Gene: ENSMUSG00000035621
AA Change: D78G

Domain	Start	End	E-Value	Type
UBQ	32	102	3.39e-7	SMART
low complexity region	154	168	N/A	INTRINSIC
low complexity region	195	219	N/A	INTRINSIC
low complexity region	240	259	N/A	INTRINSIC
low complexity region	355	366	N/A	INTRINSIC
low complexity region	391	410	N/A	INTRINSIC
low complexity region	422	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105366

SMART Domains

Protein: ENSMUSP00000101005
Gene: ENSMUSG00000003072

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:ATP-synt_DE_N	38	103	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105367

SMART Domains

Protein: ENSMUSP00000101006
Gene: ENSMUSG00000003072

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:ATP-synt_DE_N	38	119	2.2e-21	PFAM
low complexity region	144	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124179

Predicted Effect

probably benign
Transcript: ENSMUST00000144526

SMART Domains

Protein: ENSMUSP00000120988
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151202

SMART Domains

Protein: ENSMUSP00000115717
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
Blast:UBQ	32	67	4e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000146516

SMART Domains

Protein: ENSMUSP00000119962
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	88	112	N/A	INTRINSIC
low complexity region	133	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153477

SMART Domains

Protein: ENSMUSP00000119787
Gene: ENSMUSG00000035621

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that contains an ubiquitin-like domain. This protein may be involved in the regulation of brain development as inferred by its high expression level in the embryonic midbrain. This protein has been found to negatively regulate glucokinase activity and insulin secretion in pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate and small ovary. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Ano6	A	T	15: 95,863,855 (GRCm39)	T792S	probably benign	Het
Atm	A	T	9: 53,421,566 (GRCm39)	V715D	probably damaging	Het
Avl9	A	G	6: 56,713,828 (GRCm39)	D362G	probably benign	Het
Bin1	T	A	18: 32,547,280 (GRCm39)	S152R	probably damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Btrc	A	G	19: 45,504,497 (GRCm39)	D397G	probably damaging	Het
Cables2	A	T	2: 179,902,222 (GRCm39)	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,389,221 (GRCm39)	L228P	probably damaging	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cdh26	A	T	2: 178,108,382 (GRCm39)	S327C	probably damaging	Het
Cep78	T	C	19: 15,938,344 (GRCm39)	K535E	probably damaging	Het
Ces1a	A	G	8: 93,753,969 (GRCm39)	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,741,347 (GRCm39)	R2524I	probably damaging	Het
Cracd	A	T	5: 77,004,256 (GRCm39)	I206F	probably damaging	Het
Dctn1	G	A	6: 83,171,169 (GRCm39)	R661H	probably damaging	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Emx1	T	C	6: 85,165,237 (GRCm39)	S105P	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Fam193a	A	T	5: 34,623,102 (GRCm39)	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,347,028 (GRCm39)	Q207R	probably benign	Het
Gm5460	G	A	14: 33,767,775 (GRCm39)	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,783,660 (GRCm39)	I249T	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igfn1	T	C	1: 135,897,275 (GRCm39)	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,161,245 (GRCm39)	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,076,710 (GRCm39)	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,357,758 (GRCm39)	C94G	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Myh1	A	T	11: 67,102,052 (GRCm39)	M811L	probably benign	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,755,565 (GRCm39)	T979A	probably benign	Het
Myo18b	A	T	5: 113,006,274 (GRCm39)	C879S	probably damaging	Het
Myom1	A	G	17: 71,384,807 (GRCm39)	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,215,542 (GRCm39)	C74R	possibly damaging	Het
Obscn	A	G	11: 58,970,972 (GRCm39)	F2514L	probably damaging	Het
Or4a69	G	A	2: 89,313,471 (GRCm39)	Q3*	probably null	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcdha5	G	T	18: 37,094,542 (GRCm39)	M350I	probably benign	Het
Pcdha5	G	A	18: 37,094,834 (GRCm39)	V448M	probably damaging	Het
Pex12	C	T	11: 83,188,455 (GRCm39)	R180H	possibly damaging	Het
Pip4p1	C	G	14: 51,167,749 (GRCm39)	V59L	probably damaging	Het
Pkd1l1	A	T	11: 8,912,701 (GRCm39)	V168E	probably damaging	Het
Prokr2	T	A	2: 132,223,095 (GRCm39)	D149V	probably damaging	Het
Rnf123	A	G	9: 107,940,720 (GRCm39)	V707A	probably benign	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,406,117 (GRCm39)	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,309,260 (GRCm39)		probably null	Het
Shfl	A	T	9: 20,784,473 (GRCm39)	I186F	possibly damaging	Het
Skic3	A	G	13: 76,330,986 (GRCm39)	E1472G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Snapc1	A	G	12: 74,011,417 (GRCm39)	T28A	probably benign	Het
Soat1	T	C	1: 156,258,669 (GRCm39)	Y528C	probably damaging	Het
Spem1	G	A	11: 69,712,344 (GRCm39)	R107C	possibly damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,016,388 (GRCm39)	N691K	probably damaging	Het
Syne2	A	T	12: 76,142,311 (GRCm39)	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tenm3	G	A	8: 48,693,305 (GRCm39)	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,030,809 (GRCm39)	V1048D	probably damaging	Het
Vav3	T	C	3: 109,248,482 (GRCm39)	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Wwp2	A	G	8: 108,275,167 (GRCm39)	D388G	probably damaging	Het
Xirp2	A	T	2: 67,355,336 (GRCm39)	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,360,701 (GRCm39)		probably benign	Het

Other mutations in Midn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01586:Midn	APN	10	79,992,477 (GRCm39)	unclassified	probably benign
IGL01969:Midn	APN	10	79,991,093 (GRCm39)	missense	probably benign	0.00
IGL02824:Midn	APN	10	79,989,486 (GRCm39)	missense	possibly damaging	0.91
Dunkel	UTSW	10	79,989,918 (GRCm39)	missense	probably damaging	0.96
full_moon	UTSW	10	79,985,946 (GRCm39)	missense	possibly damaging	0.66
Midnight	UTSW	10	79,990,291 (GRCm39)	missense	probably damaging	0.98
Sepia	UTSW	10	79,987,238 (GRCm39)	missense	probably null	0.26
R0684:Midn	UTSW	10	79,992,336 (GRCm39)	missense	probably damaging	1.00
R1517:Midn	UTSW	10	79,989,957 (GRCm39)	missense	probably damaging	0.96
R1926:Midn	UTSW	10	79,987,495 (GRCm39)	missense	probably damaging	1.00
R2004:Midn	UTSW	10	79,990,983 (GRCm39)	missense	probably benign	0.13
R2016:Midn	UTSW	10	79,985,949 (GRCm39)	missense	possibly damaging	0.91
R2340:Midn	UTSW	10	79,985,946 (GRCm39)	missense	possibly damaging	0.66
R3622:Midn	UTSW	10	79,986,144 (GRCm39)	missense	probably benign	0.16
R3624:Midn	UTSW	10	79,986,144 (GRCm39)	missense	probably benign	0.16
R4296:Midn	UTSW	10	79,987,553 (GRCm39)	missense	probably damaging	1.00
R4740:Midn	UTSW	10	79,987,238 (GRCm39)	missense	probably null	0.26
R4930:Midn	UTSW	10	79,991,189 (GRCm39)	missense	probably benign
R4977:Midn	UTSW	10	79,986,018 (GRCm39)	missense	probably damaging	1.00
R5423:Midn	UTSW	10	79,991,027 (GRCm39)	missense	probably benign	0.15
R6149:Midn	UTSW	10	79,990,291 (GRCm39)	missense	probably damaging	0.98
R6542:Midn	UTSW	10	79,992,418 (GRCm39)	missense	probably damaging	0.97
R6826:Midn	UTSW	10	79,989,961 (GRCm39)	nonsense	probably null
R7478:Midn	UTSW	10	79,991,156 (GRCm39)	missense	possibly damaging	0.53
R8025:Midn	UTSW	10	79,991,126 (GRCm39)	missense	probably benign	0.00
R8819:Midn	UTSW	10	79,990,234 (GRCm39)	missense	probably damaging	1.00
R8820:Midn	UTSW	10	79,990,234 (GRCm39)	missense	probably damaging	1.00
R8870:Midn	UTSW	10	79,985,939 (GRCm39)	missense	probably damaging	0.96
R9040:Midn	UTSW	10	79,989,918 (GRCm39)	missense	probably damaging	0.96
R9228:Midn	UTSW	10	79,990,275 (GRCm39)	missense	probably damaging	1.00
R9399:Midn	UTSW	10	79,992,210 (GRCm39)	nonsense	probably null
R9784:Midn	UTSW	10	79,992,247 (GRCm39)	missense	probably damaging	1.00
X0018:Midn	UTSW	10	79,989,831 (GRCm39)	missense	possibly damaging	0.90
Z1176:Midn	UTSW	10	79,989,462 (GRCm39)	missense	probably benign
Z1177:Midn	UTSW	10	79,986,074 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCCCGGCTAGGATTGGAG -3'
(R):5'- GTATTTCCCGTGCACCCTGG -3'

Sequencing Primer
(F):5'- TAGGATTGGAGGCGACCC -3'
(R):5'- GGCCCAAGCAAGTAAGGCC -3'

Posted On

2014-12-04