Mutagenetix > Incidental Mutation

Incidental Mutation 'R9320:Mroh4'

706120

Institutional Source

Beutler Lab

Gene Symbol

Mroh4

Ensembl Gene

ENSMUSG00000022603

Gene Name

maestro heat-like repeat family member 4

Synonyms

1700016M24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74477878-74508202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74483405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 644 (T644I)

Ref Sequence

ENSEMBL: ENSMUSP00000023271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023271] [ENSMUST00000137963]

AlphaFold

G3X8W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023271
AA Change: T644I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023271
Gene: ENSMUSG00000022603
AA Change: T644I

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	326	337	N/A	INTRINSIC
low complexity region	428	435	N/A	INTRINSIC
low complexity region	520	534	N/A	INTRINSIC
low complexity region	572	591	N/A	INTRINSIC
SCOP:d1ee4a_	709	852	3e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000137963
AA Change: T575I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117011
Gene: ENSMUSG00000022603
AA Change: T575I

Domain	Start	End	E-Value	Type
low complexity region	257	268	N/A	INTRINSIC
low complexity region	359	366	N/A	INTRINSIC
low complexity region	451	465	N/A	INTRINSIC
low complexity region	503	522	N/A	INTRINSIC
SCOP:d1ee4a_	640	783	3e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,320 (GRCm39)	Y1451H	probably damaging	Het
Abca7	T	A	10: 79,833,471 (GRCm39)	M8K	possibly damaging	Het
Ablim3	C	A	18: 61,972,805 (GRCm39)	R238L	probably damaging	Het
Adar	T	A	3: 89,658,368 (GRCm39)	Y1141*	probably null	Het
Arid2	T	C	15: 96,269,067 (GRCm39)	I1060T	probably damaging	Het
Armc2	A	T	10: 41,839,774 (GRCm39)	V397D	possibly damaging	Het
Astn2	A	G	4: 66,322,386 (GRCm39)	V71A	unknown	Het
Bcat2	A	G	7: 45,234,542 (GRCm39)	D141G	probably damaging	Het
Bicdl1	C	A	5: 115,862,769 (GRCm39)	R162L	probably damaging	Het
Btbd17	A	G	11: 114,684,910 (GRCm39)	I43T	possibly damaging	Het
C2cd5	A	T	6: 142,977,019 (GRCm39)	C698*	probably null	Het
Calr	T	A	8: 85,572,629 (GRCm39)	K87*	probably null	Het
Cap2	C	T	13: 46,768,818 (GRCm39)	T208I	probably benign	Het
Col14a1	A	T	15: 55,364,780 (GRCm39)	M1630L	probably benign	Het
Copg1	T	G	6: 87,887,072 (GRCm39)	S816A	possibly damaging	Het
Csf2ra	C	A	19: 61,215,280 (GRCm39)	A112S	possibly damaging	Het
Cwc27	T	A	13: 104,933,799 (GRCm39)	H241L	probably benign	Het
Dgki	T	A	6: 36,892,422 (GRCm39)	E852V	probably damaging	Het
Dpp6	T	C	5: 27,868,521 (GRCm39)		probably null	Het
Dynlrb1	T	C	2: 155,089,860 (GRCm39)		probably null	Het
Ehhadh	C	T	16: 21,592,281 (GRCm39)	V141I	probably benign	Het
Esyt3	A	G	9: 99,194,044 (GRCm39)	L865P	probably damaging	Het
Fam83h	T	A	15: 75,873,924 (GRCm39)	T1138S	possibly damaging	Het
Fzd4	T	C	7: 89,056,912 (GRCm39)	W320R	probably damaging	Het
Gimap7	A	T	6: 48,701,260 (GRCm39)	K282M	probably benign	Het
Gnai2	G	A	9: 107,492,913 (GRCm39)	T330I		Het
Gpr107	T	C	2: 31,078,728 (GRCm39)	S388P	possibly damaging	Het
Il1a	T	G	2: 129,142,654 (GRCm39)	M264L	probably benign	Het
Ints10	A	T	8: 69,279,951 (GRCm39)	I693F	probably damaging	Het
Jak3	A	T	8: 72,134,265 (GRCm39)	N456Y	probably benign	Het
Krcc1	A	G	6: 71,261,457 (GRCm39)	E163G	probably benign	Het
Lctl	A	G	9: 64,040,455 (GRCm39)	Y466C	probably damaging	Het
Lrp12	A	T	15: 39,741,357 (GRCm39)	S472T	probably damaging	Het
Lrp1b	A	G	2: 41,335,111 (GRCm39)		probably null	Het
Lrriq1	T	A	10: 103,057,144 (GRCm39)	M219L	probably benign	Het
Mbl2	T	A	19: 30,216,741 (GRCm39)	D184E	probably damaging	Het
Mrgpra9	G	A	7: 46,885,392 (GRCm39)	R92C	probably benign	Het
Muc5ac	C	T	7: 141,369,255 (GRCm39)	A3114V	probably benign	Het
Myh11	T	A	16: 14,029,152 (GRCm39)	M1197L		Het
Naga	C	T	15: 82,221,084 (GRCm39)	G71S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsd3	A	G	8: 26,199,088 (GRCm39)		probably null	Het
Nsun6	T	C	2: 15,047,048 (GRCm39)	T101A	probably benign	Het
Or55b10	T	A	7: 102,144,084 (GRCm39)		probably benign	Het
Pabpc4l	T	A	3: 46,401,326 (GRCm39)	D106V	probably damaging	Het
Pdlim5	G	A	3: 141,953,109 (GRCm39)	P529L	probably damaging	Het
Ralgapa1	A	G	12: 55,755,843 (GRCm39)	L1111P	possibly damaging	Het
Rangap1	T	C	15: 81,606,221 (GRCm39)	D40G	probably benign	Het
Ripor2	T	C	13: 24,915,663 (GRCm39)	F1078L	probably damaging	Het
Ryr3	T	C	2: 112,610,336 (GRCm39)	D2312G	probably damaging	Het
Siglecg	T	A	7: 43,058,853 (GRCm39)	I202N	probably benign	Het
Slco4c1	G	T	1: 96,795,644 (GRCm39)	S138*	probably null	Het
Snx27	T	C	3: 94,431,593 (GRCm39)	Y267C	probably damaging	Het
Sphk2	C	T	7: 45,361,179 (GRCm39)	R275H	probably damaging	Het
Stk36	T	A	1: 74,655,793 (GRCm39)	V432E	possibly damaging	Het
Tecrl	C	T	5: 83,428,422 (GRCm39)	S283N	possibly damaging	Het
Tenm2	T	A	11: 35,914,474 (GRCm39)	E2354D	probably damaging	Het
Tmem59l	A	G	8: 70,937,822 (GRCm39)	V186A	possibly damaging	Het
Try4	T	C	6: 41,282,008 (GRCm39)		probably null	Het
Ubr1	C	A	2: 120,727,000 (GRCm39)	G1248V	probably benign	Het
Umod	C	T	7: 119,065,355 (GRCm39)	G558E	probably damaging	Het
Unc13b	T	C	4: 43,171,044 (GRCm39)	F624S	unknown	Het
Uvssa	T	G	5: 33,547,365 (GRCm39)	D310E	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn1r3	A	G	4: 3,185,284 (GRCm39)	F8L	probably benign	Het
Zfp268	C	G	4: 145,349,156 (GRCm39)	Q198E	possibly damaging	Het
Zfp386	T	A	12: 116,023,517 (GRCm39)	C412S	probably damaging	Het

Other mutations in Mroh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01645:Mroh4	APN	15	74,483,207 (GRCm39)	splice site	probably benign
IGL02370:Mroh4	APN	15	74,497,390 (GRCm39)	missense	probably benign	0.00
IGL02598:Mroh4	APN	15	74,483,092 (GRCm39)	critical splice donor site	probably null
IGL02644:Mroh4	APN	15	74,482,224 (GRCm39)	missense	possibly damaging	0.90
IGL02666:Mroh4	APN	15	74,481,624 (GRCm39)	missense	probably benign	0.04
IGL02723:Mroh4	APN	15	74,480,086 (GRCm39)	splice site	probably benign
IGL02724:Mroh4	APN	15	74,478,000 (GRCm39)	missense	probably benign	0.00
IGL03000:Mroh4	APN	15	74,487,963 (GRCm39)	missense	probably benign
IGL03103:Mroh4	APN	15	74,488,008 (GRCm39)	missense	possibly damaging	0.47
IGL03194:Mroh4	APN	15	74,483,388 (GRCm39)	missense	probably damaging	1.00
R0013:Mroh4	UTSW	15	74,480,086 (GRCm39)	splice site	probably benign
R0042:Mroh4	UTSW	15	74,482,154 (GRCm39)	missense	probably damaging	0.99
R0042:Mroh4	UTSW	15	74,482,154 (GRCm39)	missense	probably damaging	0.99
R0294:Mroh4	UTSW	15	74,477,998 (GRCm39)	missense	probably benign
R0346:Mroh4	UTSW	15	74,486,141 (GRCm39)	splice site	probably benign
R0545:Mroh4	UTSW	15	74,497,276 (GRCm39)	missense	probably benign	0.00
R0688:Mroh4	UTSW	15	74,478,527 (GRCm39)	missense	probably damaging	0.98
R1838:Mroh4	UTSW	15	74,487,962 (GRCm39)	missense	probably benign	0.03
R2037:Mroh4	UTSW	15	74,481,610 (GRCm39)	missense	possibly damaging	0.91
R4725:Mroh4	UTSW	15	74,487,956 (GRCm39)	missense	probably damaging	0.99
R4786:Mroh4	UTSW	15	74,482,083 (GRCm39)	missense	probably benign	0.08
R4798:Mroh4	UTSW	15	74,498,028 (GRCm39)	missense	probably damaging	1.00
R4945:Mroh4	UTSW	15	74,483,857 (GRCm39)	missense	probably benign	0.00
R5065:Mroh4	UTSW	15	74,500,119 (GRCm39)	splice site	probably null
R5476:Mroh4	UTSW	15	74,483,510 (GRCm39)	missense	probably benign	0.15
R5509:Mroh4	UTSW	15	74,478,003 (GRCm39)	missense	probably benign	0.00
R5527:Mroh4	UTSW	15	74,486,865 (GRCm39)	missense	probably damaging	1.00
R5662:Mroh4	UTSW	15	74,497,277 (GRCm39)	missense	possibly damaging	0.63
R5818:Mroh4	UTSW	15	74,483,831 (GRCm39)	missense	probably damaging	0.98
R5861:Mroh4	UTSW	15	74,478,456 (GRCm39)	intron	probably benign
R5886:Mroh4	UTSW	15	74,478,296 (GRCm39)	missense	possibly damaging	0.90
R5935:Mroh4	UTSW	15	74,493,003 (GRCm39)	missense	probably damaging	1.00
R6008:Mroh4	UTSW	15	74,497,321 (GRCm39)	nonsense	probably null
R6658:Mroh4	UTSW	15	74,492,978 (GRCm39)	missense	possibly damaging	0.83
R6689:Mroh4	UTSW	15	74,483,852 (GRCm39)	missense	probably damaging	1.00
R6739:Mroh4	UTSW	15	74,481,568 (GRCm39)	missense	probably benign	0.10
R6888:Mroh4	UTSW	15	74,485,098 (GRCm39)	missense	possibly damaging	0.93
R7088:Mroh4	UTSW	15	74,497,993 (GRCm39)	missense	probably benign	0.25
R7260:Mroh4	UTSW	15	74,479,978 (GRCm39)	missense	possibly damaging	0.83
R7365:Mroh4	UTSW	15	74,482,220 (GRCm39)	nonsense	probably null
R7735:Mroh4	UTSW	15	74,497,357 (GRCm39)	missense	probably damaging	0.98
R7763:Mroh4	UTSW	15	74,496,554 (GRCm39)	missense	probably damaging	0.99
R7945:Mroh4	UTSW	15	74,496,554 (GRCm39)	missense	probably damaging	0.99
R8090:Mroh4	UTSW	15	74,496,550 (GRCm39)	missense	probably benign	0.41
R8242:Mroh4	UTSW	15	74,488,157 (GRCm39)	missense	possibly damaging	0.47
R8978:Mroh4	UTSW	15	74,499,473 (GRCm39)	missense	probably benign	0.00
R9004:Mroh4	UTSW	15	74,486,171 (GRCm39)	missense	possibly damaging	0.65
R9083:Mroh4	UTSW	15	74,498,140 (GRCm39)	missense	probably damaging	1.00
R9172:Mroh4	UTSW	15	74,477,961 (GRCm39)	makesense	probably null
R9248:Mroh4	UTSW	15	74,485,167 (GRCm39)	missense	possibly damaging	0.59
R9356:Mroh4	UTSW	15	74,482,760 (GRCm39)	missense	probably benign	0.05
R9512:Mroh4	UTSW	15	74,485,095 (GRCm39)	missense	probably benign	0.18
Z1177:Mroh4	UTSW	15	74,499,851 (GRCm39)	missense	possibly damaging	0.83
Z1177:Mroh4	UTSW	15	74,499,569 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAAGAAGCAGACCCAGAGTC -3'
(R):5'- GACAGAGTTCCCAAACTGTCC -3'

Sequencing Primer
(F):5'- TCCCAGAGGGCTCCATTC -3'
(R):5'- GTTCCCAAACTGTCCAAGAGGG -3'

Posted On

2022-03-25