Mutagenetix > Incidental Mutation

Incidental Mutation 'R2004:Midn'

223422

Institutional Source

Beutler Lab

Gene Symbol

Midn

Ensembl Gene

ENSMUSG00000035621

Gene Name

midnolin

Synonyms

3000003C15Rik

MMRRC Submission

040013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2004 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

79984106-79994202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79990983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 331 (N331S)

Ref Sequence

ENSEMBL: ENSMUSP00000046967 (fasta)

Gene Model

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

AlphaFold

Q3TPJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042057
AA Change: N331S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046967
Gene: ENSMUSG00000035621
AA Change: N331S

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: N288S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097091
Gene: ENSMUSG00000035621
AA Change: N288S

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

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: 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: 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: 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: 97.2%
20x: 94.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,092,561 (GRCm39)	Y146*	probably null	Het
Adcy2	A	G	13: 68,944,722 (GRCm39)	L220P	probably damaging	Het
Agl	T	C	3: 116,574,914 (GRCm39)	Y660C	probably damaging	Het
Ak1	A	G	2: 32,519,622 (GRCm39)	T17A	probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ankrd11	A	T	8: 123,629,161 (GRCm39)		probably null	Het
Ap5b1	T	C	19: 5,620,502 (GRCm39)	S641P	possibly damaging	Het
Apoc4	A	G	7: 19,415,304 (GRCm39)	M1T	probably null	Het
Arhgap5	T	C	12: 52,564,817 (GRCm39)	V596A	probably benign	Het
Ascc3	A	G	10: 50,493,838 (GRCm39)	E91G	probably damaging	Het
Bach2	T	A	4: 32,580,055 (GRCm39)	V637E	probably benign	Het
Bicd2	T	G	13: 49,532,881 (GRCm39)	L489R	possibly damaging	Het
Bltp1	C	T	3: 36,949,527 (GRCm39)	T2I	possibly damaging	Het
Boc	A	T	16: 44,322,007 (GRCm39)		probably null	Het
Cbln2	T	A	18: 86,734,791 (GRCm39)	V188D	probably damaging	Het
Ccl11	A	C	11: 81,953,123 (GRCm39)	T94P	probably damaging	Het
Cd109	A	T	9: 78,611,044 (GRCm39)	H1220L	probably benign	Het
Cd226	A	G	18: 89,265,435 (GRCm39)	I125V	probably benign	Het
Cep135	T	A	5: 76,780,176 (GRCm39)		probably null	Het
Cgnl1	T	G	9: 71,537,821 (GRCm39)	E1233A	probably damaging	Het
Ckap5	T	A	2: 91,437,891 (GRCm39)	D1597E	possibly damaging	Het
Clptm1	A	G	7: 19,380,762 (GRCm39)	I63T	possibly damaging	Het
Cpsf7	C	T	19: 10,518,073 (GRCm39)	P428S	probably damaging	Het
Cuedc1	C	T	11: 88,068,216 (GRCm39)	P155S	probably damaging	Het
Dgkb	T	C	12: 38,134,228 (GRCm39)	Y45H	probably damaging	Het
Dglucy	T	C	12: 100,823,181 (GRCm39)	F459L	probably damaging	Het
Dmp1	T	A	5: 104,359,790 (GRCm39)	D155E	possibly damaging	Het
Dnah1	T	A	14: 31,023,813 (GRCm39)	I960F	possibly damaging	Het
Drosha	G	T	15: 12,915,467 (GRCm39)	M795I	probably damaging	Het
Dsg1b	A	G	18: 20,529,532 (GRCm39)	T326A	probably damaging	Het
Dusp16	T	G	6: 134,695,802 (GRCm39)	N343T	probably benign	Het
Faim2	T	C	15: 99,398,127 (GRCm39)	S274G	possibly damaging	Het
Fhip2a	G	T	19: 57,370,324 (GRCm39)	V523L	probably benign	Het
Fndc1	T	C	17: 8,023,761 (GRCm39)	R65G	probably damaging	Het
Fnip2	A	T	3: 79,419,632 (GRCm39)		probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Herc2	T	C	7: 55,787,607 (GRCm39)	F1755L	probably damaging	Het
Hivep1	C	T	13: 42,313,625 (GRCm39)	T1955I	possibly damaging	Het
Ift20	T	C	11: 78,431,797 (GRCm39)	I97T	probably damaging	Het
Il36rn	T	C	2: 24,171,376 (GRCm39)	C155R	probably damaging	Het
Lca5l	T	A	16: 95,963,849 (GRCm39)	K358N	probably damaging	Het
Lca5l	T	C	16: 95,977,218 (GRCm39)	N196S	possibly damaging	Het
Maf1	G	A	15: 76,237,563 (GRCm39)	D175N	probably damaging	Het
Mical3	T	C	6: 120,928,283 (GRCm39)	K996E	probably damaging	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mlx	A	G	11: 100,979,805 (GRCm39)	Q162R	possibly damaging	Het
Nalf1	A	G	8: 9,820,607 (GRCm39)	S138P	probably benign	Het
Ngp	T	C	9: 110,249,929 (GRCm39)	C76R	probably damaging	Het
Nin	C	T	12: 70,072,251 (GRCm39)	G1210D	probably benign	Het
Nlgn1	A	G	3: 25,488,034 (GRCm39)	I738T	probably benign	Het
Nop53	A	C	7: 15,672,153 (GRCm39)	F465C	probably damaging	Het
Npas3	A	G	12: 54,114,680 (GRCm39)	D503G	possibly damaging	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Nup42	G	T	5: 24,386,989 (GRCm39)	G260*	probably null	Het
Ogdh	G	C	11: 6,284,626 (GRCm39)	R200P	possibly damaging	Het
Or4b13	T	A	2: 90,083,036 (GRCm39)	I99L	probably benign	Het
Or52n20	A	G	7: 104,320,808 (GRCm39)	T300A	possibly damaging	Het
Or5m13b	T	G	2: 85,753,939 (GRCm39)		probably null	Het
Or6ae1	C	T	7: 139,742,729 (GRCm39)	V45I	probably damaging	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Or7g33	A	T	9: 19,448,688 (GRCm39)	C179*	probably null	Het
Ovgp1	T	A	3: 105,894,309 (GRCm39)		probably benign	Het
Papln	T	A	12: 83,819,992 (GRCm39)	C150S	probably damaging	Het
Pde1c	A	T	6: 56,135,996 (GRCm39)	L316Q	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Piezo2	G	T	18: 63,277,997 (GRCm39)	D302E	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plin1	A	G	7: 79,375,378 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,688,484 (GRCm39)	I698T	probably damaging	Het
Ppp1r12c	G	T	7: 4,485,974 (GRCm39)	C572*	probably null	Het
Ptgis	T	C	2: 167,056,769 (GRCm39)	M273V	possibly damaging	Het
Samd14	C	A	11: 94,914,110 (GRCm39)	T283K	probably damaging	Het
Scnn1g	A	T	7: 121,337,411 (GRCm39)	K91*	probably null	Het
Slc24a4	A	G	12: 102,180,166 (GRCm39)	Q95R	probably damaging	Het
Slfn9	T	G	11: 82,879,027 (GRCm39)	D34A	probably benign	Het
Smarca4	A	T	9: 21,588,776 (GRCm39)	I1193F	probably damaging	Het
Spata31e5	A	G	1: 28,816,260 (GRCm39)	W591R	probably damaging	Het
Sphkap	T	C	1: 83,255,632 (GRCm39)	M706V	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stxbp1	T	C	2: 32,688,201 (GRCm39)	D488G	probably damaging	Het
Sugp2	C	T	8: 70,695,306 (GRCm39)		probably null	Het
Tekt5	T	C	16: 10,213,070 (GRCm39)	I72V	probably benign	Het
Themis	T	A	10: 28,658,720 (GRCm39)	N582K	probably benign	Het
Tmed11	C	A	5: 108,934,000 (GRCm39)	M65I	possibly damaging	Het
Top3a	G	T	11: 60,633,315 (GRCm39)	P927Q	probably damaging	Het
Trpa1	A	T	1: 14,976,207 (GRCm39)	N165K	possibly damaging	Het
Tsfm	A	G	10: 126,866,663 (GRCm39)	S2P	probably damaging	Het
Wdr47	C	A	3: 108,534,758 (GRCm39)	S559*	probably null	Het
Wnt2b	T	C	3: 104,860,331 (GRCm39)	Y192C	probably damaging	Het
Zfp280b	A	G	10: 75,874,370 (GRCm39)	D83G	probably benign	Het
Zfp345	T	C	2: 150,314,038 (GRCm39)	T500A	possibly damaging	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	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
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
R2483:Midn	UTSW	10	79,986,144 (GRCm39)	missense	probably benign	0.16
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'- CTTGAGTAGCTAGGATGACAGG -3'
(R):5'- ACATTCGAATCTGGCTCTGGC -3'

Sequencing Primer
(F):5'- CTAGGATGACAGGTGCATAGC -3'
(R):5'- CCAGCTTTTCACAGGAGGTAG -3'

Posted On

2014-08-25