Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Mroh1'

570688

Institutional Source

Beutler Lab

Gene Symbol

Mroh1

Ensembl Gene

ENSMUSG00000022558

Gene Name

maestro heat-like repeat family member 1

Synonyms

Heatr7a, D330001F17Rik

MMRRC Submission

045438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76264638-76337239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76335674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1439 (P1439Q)

Ref Sequence

ENSEMBL: ENSMUSP00000094115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023217] [ENSMUST00000096385]

AlphaFold

E0CZ22

Predicted Effect

probably benign
Transcript: ENSMUST00000023217

SMART Domains

Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557

Domain	Start	End	E-Value	Type
low complexity region	31	48	N/A	INTRINSIC
low complexity region	106	117	N/A	INTRINSIC
BOP1NT	130	388	1.38e-177	SMART
WD40	388	427	1.16e-9	SMART
WD40	430	469	6.16e0	SMART
WD40	508	551	7.1e1	SMART
WD40	554	592	4.46e-1	SMART
WD40	595	634	2.76e-2	SMART
WD40	638	677	4.14e-6	SMART
WD40	689	732	3.14e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096385
AA Change: P1439Q

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
AA Change: P1439Q

Domain	Start	End	E-Value	Type
low complexity region	442	455	N/A	INTRINSIC
low complexity region	594	607	N/A	INTRINSIC
low complexity region	799	810	N/A	INTRINSIC
low complexity region	935	946	N/A	INTRINSIC
low complexity region	1191	1202	N/A	INTRINSIC
low complexity region	1355	1367	N/A	INTRINSIC
low complexity region	1488	1502	N/A	INTRINSIC
Pfam:HEAT	1610	1640	2.2e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161265

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Babam2	T	A	5: 32,164,594 (GRCm39)	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad1	T	C	2: 70,425,094 (GRCm39)	F463L	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gcc2	T	C	10: 58,116,520 (GRCm39)		probably null	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,110 (GRCm39)	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf14	A	T	6: 11,961,637 (GRCm39)	N425Y	probably damaging	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rigi	T	A	4: 40,239,668 (GRCm39)	Q10L	probably benign	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,155,244 (GRCm39)	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	probably benign	Het

Other mutations in Mroh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Mroh1	APN	15	76,316,488 (GRCm39)	missense	probably benign	0.01
IGL02141:Mroh1	APN	15	76,330,799 (GRCm39)	missense	possibly damaging	0.47
IGL02146:Mroh1	APN	15	76,318,879 (GRCm39)	splice site	probably benign
IGL02205:Mroh1	APN	15	76,321,439 (GRCm39)	missense	possibly damaging	0.81
IGL02261:Mroh1	APN	15	76,313,360 (GRCm39)	missense	probably benign	0.03
IGL02818:Mroh1	APN	15	76,316,601 (GRCm39)	splice site	probably null
IGL02949:Mroh1	APN	15	76,293,168 (GRCm39)	missense	probably damaging	0.97
IGL02951:Mroh1	APN	15	76,311,836 (GRCm39)	missense	probably damaging	1.00
IGL03154:Mroh1	APN	15	76,337,038 (GRCm39)	missense	probably damaging	1.00
IGL02799:Mroh1	UTSW	15	76,276,661 (GRCm39)	critical splice donor site	probably null
R0068:Mroh1	UTSW	15	76,330,892 (GRCm39)	splice site	probably benign
R0068:Mroh1	UTSW	15	76,330,892 (GRCm39)	splice site	probably benign
R0076:Mroh1	UTSW	15	76,335,340 (GRCm39)	missense	probably benign	0.00
R0180:Mroh1	UTSW	15	76,312,450 (GRCm39)	missense	probably damaging	0.99
R0315:Mroh1	UTSW	15	76,311,800 (GRCm39)	missense	possibly damaging	0.94
R0350:Mroh1	UTSW	15	76,316,449 (GRCm39)	missense	probably damaging	0.98
R0399:Mroh1	UTSW	15	76,336,299 (GRCm39)	missense	probably benign	0.44
R0835:Mroh1	UTSW	15	76,336,083 (GRCm39)	missense	probably damaging	0.96
R0893:Mroh1	UTSW	15	76,293,138 (GRCm39)	missense	possibly damaging	0.62
R1109:Mroh1	UTSW	15	76,330,709 (GRCm39)	splice site	probably benign
R1527:Mroh1	UTSW	15	76,336,463 (GRCm39)	missense	probably benign	0.03
R1595:Mroh1	UTSW	15	76,317,730 (GRCm39)	splice site	probably benign
R1900:Mroh1	UTSW	15	76,317,585 (GRCm39)	missense	probably benign	0.00
R1901:Mroh1	UTSW	15	76,320,249 (GRCm39)	missense	probably benign
R2223:Mroh1	UTSW	15	76,292,245 (GRCm39)	critical splice donor site	probably null
R2415:Mroh1	UTSW	15	76,305,411 (GRCm39)	missense	probably damaging	0.99
R3113:Mroh1	UTSW	15	76,292,736 (GRCm39)	splice site	probably benign
R3437:Mroh1	UTSW	15	76,317,808 (GRCm39)	missense	possibly damaging	0.92
R3618:Mroh1	UTSW	15	76,336,546 (GRCm39)	missense	possibly damaging	0.55
R3833:Mroh1	UTSW	15	76,285,819 (GRCm39)	missense	probably benign	0.08
R4073:Mroh1	UTSW	15	76,292,185 (GRCm39)	missense	probably benign	0.13
R4156:Mroh1	UTSW	15	76,286,326 (GRCm39)	splice site	probably null
R4276:Mroh1	UTSW	15	76,278,051 (GRCm39)	missense	probably damaging	1.00
R4745:Mroh1	UTSW	15	76,292,730 (GRCm39)	critical splice donor site	probably null
R5450:Mroh1	UTSW	15	76,316,547 (GRCm39)	intron	probably benign
R5574:Mroh1	UTSW	15	76,318,131 (GRCm39)	missense	probably benign
R5673:Mroh1	UTSW	15	76,314,381 (GRCm39)	missense	probably damaging	1.00
R5970:Mroh1	UTSW	15	76,335,691 (GRCm39)	missense	probably benign	0.24
R5993:Mroh1	UTSW	15	76,330,880 (GRCm39)	missense	probably damaging	0.99
R6008:Mroh1	UTSW	15	76,335,557 (GRCm39)	missense	possibly damaging	0.50
R6082:Mroh1	UTSW	15	76,314,423 (GRCm39)	missense	probably benign	0.06
R6302:Mroh1	UTSW	15	76,320,319 (GRCm39)	critical splice donor site	probably null
R7030:Mroh1	UTSW	15	76,321,517 (GRCm39)	missense	probably benign	0.01
R7098:Mroh1	UTSW	15	76,292,657 (GRCm39)	nonsense	probably null
R7334:Mroh1	UTSW	15	76,311,838 (GRCm39)	missense	probably benign	0.00
R7337:Mroh1	UTSW	15	76,335,676 (GRCm39)	missense	probably benign	0.00
R7446:Mroh1	UTSW	15	76,336,472 (GRCm39)	missense	possibly damaging	0.93
R7453:Mroh1	UTSW	15	76,317,745 (GRCm39)	missense	probably damaging	1.00
R7669:Mroh1	UTSW	15	76,336,048 (GRCm39)	missense	possibly damaging	0.88
R7753:Mroh1	UTSW	15	76,317,475 (GRCm39)	missense	possibly damaging	0.62
R7860:Mroh1	UTSW	15	76,331,532 (GRCm39)	missense	probably benign	0.00
R7990:Mroh1	UTSW	15	76,336,475 (GRCm39)	missense	probably damaging	1.00
R8140:Mroh1	UTSW	15	76,318,073 (GRCm39)	missense	probably benign	0.00
R8325:Mroh1	UTSW	15	76,316,415 (GRCm39)	frame shift	probably null
R8334:Mroh1	UTSW	15	76,330,756 (GRCm39)	missense	probably benign
R8529:Mroh1	UTSW	15	76,311,832 (GRCm39)	missense	probably benign	0.00
R8544:Mroh1	UTSW	15	76,327,558 (GRCm39)	nonsense	probably null
R8688:Mroh1	UTSW	15	76,312,550 (GRCm39)	missense	probably benign	0.00
R8769:Mroh1	UTSW	15	76,297,126 (GRCm39)	missense	probably benign	0.00
R8782:Mroh1	UTSW	15	76,298,496 (GRCm39)	missense	possibly damaging	0.74
R8887:Mroh1	UTSW	15	76,331,474 (GRCm39)	missense	probably benign	0.43
R8934:Mroh1	UTSW	15	76,334,386 (GRCm39)	missense	probably benign	0.03
R9254:Mroh1	UTSW	15	76,292,215 (GRCm39)	missense	probably benign	0.16
R9400:Mroh1	UTSW	15	76,336,093 (GRCm39)	missense	possibly damaging	0.93
R9443:Mroh1	UTSW	15	76,318,964 (GRCm39)	missense	probably damaging	1.00
Z1177:Mroh1	UTSW	15	76,307,961 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTACCACGACATAGGGAAAG -3'
(R):5'- ACAGGAGGTTGTAGGCTAACAC -3'

Sequencing Primer
(F):5'- TGAACACAGCTGTCTCCT -3'
(R):5'- CACAGAAGATTCGATCATTGGTG -3'

Posted On

2019-09-13