Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Mms22l'

597593

Institutional Source

Beutler Lab

Gene Symbol

Mms22l

Ensembl Gene

ENSMUSG00000045751

Gene Name

MMS22-like, DNA repair protein

Synonyms

F730047E07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24496451-24602950 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 24598884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057715 (fasta)

Gene Model

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

AlphaFold

B1AUR6

Predicted Effect

probably null
Transcript: ENSMUST00000050446

SMART Domains

Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751

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

probably null
Transcript: ENSMUST00000108222

SMART Domains

Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751

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

probably benign
Transcript: ENSMUST00000131282

SMART Domains

Protein: ENSMUSP00000133800
Gene: ENSMUSG00000045751

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158		probably null	Het
Bche	T	A	3: 73,701,121	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456	I2043N		Het
Disc1	A	G	8: 125,087,504	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215		probably null	Het
Dync1li1	A	G	9: 114,709,277	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503		probably null	Het
Ginm1	A	T	10: 7,779,355	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm49368	C	T	7: 128,112,226	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522	K637*	probably null	Het
Jak2	T	C	19: 29,283,546	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623		probably benign	Het
Mill1	T	C	7: 18,262,466	M69T	probably benign	Het
Mup8	C	A	4: 60,220,332	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151		probably benign	Het
Pkhd1	A	G	1: 20,562,415	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464		probably null	Het
Shprh	A	T	10: 11,162,180	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943		probably null	Het
Stox1	T	C	10: 62,663,964	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490	T4072A	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330		probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341		probably benign	Het
Vmn2r43	A	T	7: 8,255,254	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278	G204*	probably null	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
R7524:Mms22l	UTSW	4	24536138	missense	possibly damaging	0.89
R7536:Mms22l	UTSW	4	24581240	missense	probably damaging	0.99
R7722:Mms22l	UTSW	4	24517201	missense	probably damaging	1.00
R7764:Mms22l	UTSW	4	24598842	missense	probably damaging	1.00
R7947:Mms22l	UTSW	4	24505373	missense	probably damaging	1.00
R8220:Mms22l	UTSW	4	24536375	missense	probably damaging	1.00
R8316:Mms22l	UTSW	4	24578855	missense	probably damaging	0.98
R8472:Mms22l	UTSW	4	24502943	missense	possibly damaging	0.86
R8495:Mms22l	UTSW	4	24496908	start codon destroyed	probably null	0.96
R8699:Mms22l	UTSW	4	24507363	missense	possibly damaging	0.72
R8795:Mms22l	UTSW	4	24536245	missense	probably benign	0.21
R8932:Mms22l	UTSW	4	24533029	missense	probably damaging	1.00
R8979:Mms22l	UTSW	4	24580070	missense	probably benign	0.01
R8996:Mms22l	UTSW	4	24598884	critical splice donor site	probably null
R9184:Mms22l	UTSW	4	24596182	missense	probably damaging	1.00
R9194:Mms22l	UTSW	4	24600185	nonsense	probably null
R9204:Mms22l	UTSW	4	24581153	missense	probably damaging	1.00
R9258:Mms22l	UTSW	4	24588238	missense	probably damaging	1.00
R9266:Mms22l	UTSW	4	24578878	missense	probably damaging	1.00
R9403:Mms22l	UTSW	4	24580204	critical splice donor site	probably null
R9788:Mms22l	UTSW	4	24586204	missense	probably benign	0.08
RF005:Mms22l	UTSW	4	24517207	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CTAAAGGGAAAACATCTTCCTATGC -3'
(R):5'- TTTCCCACTGAAGACACAAGG -3'

Sequencing Primer
(F):5'- CCTATGCATTATTTCAGCTTTGAGAC -3'
(R):5'- GGCACGTTTACTTTTTCAACAAAGC -3'

Posted On

2019-11-26