Mutagenetix > Incidental Mutations

Incidental Mutation 'R7524:Mms22l'

582828

Institutional Source

Beutler Lab

Gene Symbol

Mms22l

Ensembl Gene

ENSMUSG00000045751

Gene Name

MMS22-like, DNA repair protein

Synonyms

F730047E07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24496451-24602950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24536138 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 536 (F536I)

Ref Sequence

ENSEMBL: ENSMUSP00000057715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222] [ENSMUST00000154496]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050446
AA Change: F536I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: F536I

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	26	395	1.1e-199	PFAM
Pfam:MMS22L_N	392	690	4.6e-155	PFAM
low complexity region	698	711	N/A	INTRINSIC
low complexity region	761	770	N/A	INTRINSIC
Pfam:MMS22L_C	809	1186	2.3e-133	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108222
AA Change: F576I

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: F576I

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	26	730	N/A	PFAM
low complexity region	738	751	N/A	INTRINSIC
low complexity region	801	810	N/A	INTRINSIC
Pfam:MMS22L_C	849	1225	1.4e-142	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133800
Gene: ENSMUSG00000045751
AA Change: F304I

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	1	459	1.3e-239	PFAM
low complexity region	467	480	N/A	INTRINSIC
low complexity region	530	539	N/A	INTRINSIC
Pfam:MMS22L_C	578	733	1.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154496

SMART Domains

Protein: ENSMUSP00000134140
Gene: ENSMUSG00000045751

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	1	85	3.1e-41	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants exist for this gene, but the full-length nature of only one has been determined to date. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation die prenatally. Heterozygous mice exhibit defects in pinna responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 55,872,360	C353Y	probably damaging	Het
Afap1l2	T	A	19: 56,918,111	E452V	probably damaging	Het
AI464131	C	A	4: 41,498,779	V284L	probably benign	Het
Ak6	A	G	13: 100,663,907	D45G	probably benign	Het
Arhgap17	G	A	7: 123,306,420	P334L	probably damaging	Het
Asns	G	T	6: 7,677,259		probably null	Het
Bend7	A	G	2: 4,799,980	T424A	probably benign	Het
Btbd2	C	T	10: 80,646,444	E241K	probably damaging	Het
Commd2	A	C	3: 57,650,148	L99W	probably damaging	Het
Cpne9	A	T	6: 113,302,064	D473V	probably damaging	Het
Cuzd1	A	T	7: 131,311,618	F423L	probably damaging	Het
Cyp2d9	T	C	15: 82,455,945	F390L	probably damaging	Het
Dcaf5	T	A	12: 80,376,696	Q234L	probably benign	Het
Dennd3	T	G	15: 73,524,246	Y201*	probably null	Het
Dnah17	T	C	11: 118,121,481	D485G	probably benign	Het
Dnah5	A	T	15: 28,297,066	T1469S	possibly damaging	Het
Dnah6	T	C	6: 73,118,099	D2167G	probably damaging	Het
Dst	T	C	1: 34,291,893	V4921A	possibly damaging	Het
Ephb2	A	G	4: 136,659,709	Y736H	probably damaging	Het
Eri2	C	G	7: 119,785,749	V510L	probably benign	Het
Eya2	G	A	2: 165,769,326		probably null	Het
Fam208a	T	A	14: 27,466,203	C869S	probably damaging	Het
Fastkd5	G	T	2: 130,616,128	Q181K	probably benign	Het
Fcgbp	T	C	7: 28,102,966	S1440P	probably damaging	Het
Fkbp9	G	A	6: 56,868,740	V354M	probably damaging	Het
Frmpd1	T	A	4: 45,271,181	S304T	probably benign	Het
Gtf2a2	T	A	9: 70,015,347	Y3*	probably null	Het
Hagh	G	A	17: 24,861,340	V226I	probably benign	Het
Hemk1	T	A	9: 107,328,285	I293F	probably benign	Het
Kcna3	A	G	3: 107,037,207	E262G	probably damaging	Het
Kcnt2	A	T	1: 140,584,055	T983S	probably damaging	Het
Klhdc3	A	T	17: 46,678,414	H7Q	probably damaging	Het
Knl1	A	T	2: 119,065,979	Q94L	probably damaging	Het
Krt12	T	C	11: 99,419,659	D224G	probably damaging	Het
Lats1	T	A	10: 7,701,978	S289T	possibly damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Map1a	G	A	2: 121,289,812	V60M	probably damaging	Het
Ms4a14	T	C	19: 11,303,836	T453A	unknown	Het
Muc3a	A	C	5: 137,210,563	I151S	probably benign	Het
Oaf	G	A	9: 43,222,780	R215C	probably damaging	Het
Olfr1019	T	A	2: 85,841,357	M145L	probably benign	Het
Olfr1217	T	A	2: 89,023,971	I11L	probably benign	Het
Olfr1233	A	G	2: 89,339,877	C142R	probably benign	Het
Olfr1507	T	C	14: 52,490,293	I224V	probably damaging	Het
Olfr5	T	C	7: 6,480,587	N190D	probably benign	Het
Olfr8	T	A	10: 78,955,491	Y95*	probably null	Het
Pcdhgb4	A	T	18: 37,721,608	D352V	probably benign	Het
Pced1a	A	G	2: 130,422,028	F235L	probably benign	Het
Pclo	A	G	5: 14,678,303	I2392V	unknown	Het
Pld1	A	T	3: 28,024,321	D43V	possibly damaging	Het
Ppp1r1b	C	A	11: 98,350,894	A51D	possibly damaging	Het
Prr23a1	T	A	9: 98,842,864	L93H	probably damaging	Het
Psg20	T	C	7: 18,684,659	D61G	probably benign	Het
Rab40b	T	A	11: 121,388,052	I31F	probably damaging	Het
Rasd2	T	C	8: 75,222,081	F212L	probably benign	Het
Rbl2	A	G	8: 91,115,193	I1006V	probably benign	Het
Sema6c	A	G	3: 95,167,060	E59G	probably benign	Het
Slc22a2	G	T	17: 12,606,057	V269L	possibly damaging	Het
Slc2a1	C	T	4: 119,132,612	P149S	probably damaging	Het
Smad4	T	G	18: 73,675,871	E108D	probably damaging	Het
Sorbs2	T	A	8: 45,795,656	I648K	probably benign	Het
Suclg1	A	T	6: 73,263,841	I118F	probably damaging	Het
Tet2	A	G	3: 133,480,229	I1149T	probably benign	Het
Tfr2	T	A	5: 137,571,489	Y82*	probably null	Het
Tfr2	G	T	5: 137,583,489	V613L	probably benign	Het
Tg	A	T	15: 66,696,161	M1305L	probably benign	Het
Tmem176a	A	T	6: 48,844,105	M170L	probably benign	Het
Trim71	T	C	9: 114,513,162	N684S	probably benign	Het
Tspan9	A	G	6: 127,965,251	I212T	probably benign	Het
Ttn	A	G	2: 76,942,975	V2361A	possibly damaging	Het
Uqcrc1	C	T	9: 108,936,759	T14M	possibly damaging	Het
Vmn2r11	T	C	5: 109,053,982	I219V	probably benign	Het
Vmn2r76	T	C	7: 86,225,369	H800R	probably benign	Het
Vmn2r76	C	T	7: 86,230,166	G309R	probably benign	Het
Xpc	A	T	6: 91,499,531	C529S	probably benign	Het
Zfp455	T	A	13: 67,207,624	S254T	possibly damaging	Het
Zfp746	T	C	6: 48,064,889	H301R	possibly damaging	Het
Zyg11a	A	T	4: 108,192,074	I490N	probably damaging	Het

Other mutations in Mms22l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Mms22l	APN	4	24502805	missense	probably damaging	1.00
IGL02158:Mms22l	APN	4	24505349	missense	probably damaging	0.98
IGL02533:Mms22l	APN	4	24581099	splice site	probably benign
IGL02612:Mms22l	APN	4	24508482	missense	probably benign	0.03
IGL02685:Mms22l	APN	4	24591133	missense	probably benign
IGL03000:Mms22l	APN	4	24581161	missense	probably damaging	0.99
IGL03006:Mms22l	APN	4	24521253	missense	probably damaging	1.00
PIT4280001:Mms22l	UTSW	4	24581149	missense	probably benign	0.08
R0157:Mms22l	UTSW	4	24588224	missense	probably damaging	1.00
R0279:Mms22l	UTSW	4	24497867	missense	probably damaging	1.00
R0669:Mms22l	UTSW	4	24517223	missense	probably benign	0.00
R1056:Mms22l	UTSW	4	24586344	critical splice donor site	probably null
R1232:Mms22l	UTSW	4	24536274	missense	probably benign	0.24
R1389:Mms22l	UTSW	4	24591076	missense	probably damaging	1.00
R1543:Mms22l	UTSW	4	24591084	missense	probably benign	0.41
R1604:Mms22l	UTSW	4	24502804	missense	probably damaging	1.00
R1872:Mms22l	UTSW	4	24598807	missense	probably damaging	0.99
R1929:Mms22l	UTSW	4	24535936	unclassified	probably benign
R2024:Mms22l	UTSW	4	24588365	missense	probably damaging	1.00
R2081:Mms22l	UTSW	4	24536150	missense	probably damaging	1.00
R2104:Mms22l	UTSW	4	24591084	missense	probably benign	0.41
R2147:Mms22l	UTSW	4	24580063	nonsense	probably null
R2379:Mms22l	UTSW	4	24496929	missense	possibly damaging	0.87
R2496:Mms22l	UTSW	4	24521269	missense	probably benign	0.31
R3508:Mms22l	UTSW	4	24586224	missense	probably benign	0.01
R3625:Mms22l	UTSW	4	24505357	missense	probably damaging	1.00
R3789:Mms22l	UTSW	4	24517115	missense	possibly damaging	0.75
R4422:Mms22l	UTSW	4	24503008	missense	probably damaging	1.00
R4623:Mms22l	UTSW	4	24502792	nonsense	probably null
R4799:Mms22l	UTSW	4	24580052	critical splice acceptor site	probably null
R4825:Mms22l	UTSW	4	24536226	missense	probably damaging	1.00
R5236:Mms22l	UTSW	4	24588347	missense	probably benign	0.02
R5276:Mms22l	UTSW	4	24578774	missense	probably damaging	1.00
R5364:Mms22l	UTSW	4	24496882	unclassified	probably benign
R5394:Mms22l	UTSW	4	24517115	missense	possibly damaging	0.75
R6905:Mms22l	UTSW	4	24503107	missense	probably benign	0.00
R7206:Mms22l	UTSW	4	24591146	missense	probably benign	0.00
R7290:Mms22l	UTSW	4	24517139	missense	probably benign
R7425:Mms22l	UTSW	4	24596287	missense	probably benign	0.15
R7536:Mms22l	UTSW	4	24581240	missense	probably damaging	0.99
R7722:Mms22l	UTSW	4	24517201	missense	probably damaging	1.00
R7757:Mms22l	UTSW	4	24598884	critical splice donor site	probably null
R7764:Mms22l	UTSW	4	24598842	missense	probably damaging	1.00
RF005:Mms22l	UTSW	4	24517207	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GAAGAACTAACTGAAGTTGGCC -3'
(R):5'- TGGCAGTAACATGCTAAATCCATC -3'

Sequencing Primer
(F):5'- AGTTGGCCTACAGAACTTTTTCAGC -3'
(R):5'- CCATCATTGAGAAGATGCTCATGAG -3'

Posted On

2019-10-17