Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Midn'

323337

Institutional Source

Beutler Lab

Gene Symbol

Midn

Ensembl Gene

ENSMUSG00000035621

Gene Name

midnolin

Synonyms

3000003C15Rik

MMRRC Submission

041656-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79984106-79994202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79987553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 21 (T21I)

Ref Sequence

ENSEMBL: ENSMUSP00000119787 (fasta)

Gene Model

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

AlphaFold

Q3TPJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042057
AA Change: T128I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046967
Gene: ENSMUSG00000035621
AA Change: T128I

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

possibly damaging
Transcript: ENSMUST00000099492
AA Change: T128I

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097091
Gene: ENSMUSG00000035621
AA Change: T128I

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 damaging
Transcript: ENSMUST00000144526
AA Change: T21I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120988
Gene: ENSMUSG00000035621
AA Change: T21I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146516
AA Change: T21I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119962
Gene: ENSMUSG00000035621
AA Change: T21I

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 damaging
Transcript: ENSMUST00000153477
AA Change: T21I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119787
Gene: ENSMUSG00000035621
AA Change: T21I

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,678,035 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Huwe1	C	A	X: 150,671,444 (GRCm39)	T1012K	probably benign	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,526,927 (GRCm39)	V734F	probably benign	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tgm3	G	T	2: 129,880,333 (GRCm39)	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,501,120 (GRCm39)	M920L	probably benign	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmpo	A	T	10: 90,998,818 (GRCm39)	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,809,793 (GRCm39)		probably benign	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	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
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
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
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'- TGCAAAGAGCTCTCCCACTG -3'
(R):5'- TGTCTCAAGGTCAGGTGGTC -3'

Sequencing Primer
(F):5'- AGCTCTCCCACTGCCCCTAG -3'
(R):5'- CTCAAGGTCAGGTGGTCAGGTG -3'

Posted On

2015-06-20