Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02158:Mms22l'

282324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mms22l

Ensembl Gene

ENSMUSG00000045751

Gene Name

MMS22-like, DNA repair protein

Synonyms

F730047E07Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

24496451-24602950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24505349 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 203 (F203S)

Ref Sequence

ENSEMBL: ENSMUSP00000103857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222] [ENSMUST00000138567] [ENSMUST00000172622]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050446
AA Change: F203S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: F203S

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 damaging
Transcript: ENSMUST00000108222
AA Change: F203S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: F203S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138567

SMART Domains

Protein: ENSMUSP00000134736
Gene: ENSMUSG00000045751

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	26	202	3e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154349

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172622
AA Change: F131S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133658
Gene: ENSMUSG00000045751
AA Change: F131S

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	1	204	2.5e-112	PFAM
Pfam:MMS22L_N	202	323	2.2e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173079

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,256,619		probably null	Het
Abca2	A	G	2: 25,447,879		probably benign	Het
Abcb11	A	T	2: 69,299,925	S262R	probably damaging	Het
Abhd12	T	A	2: 150,848,421	Q118L	probably benign	Het
Adam1a	A	T	5: 121,518,971	L753*	probably null	Het
Ahctf1	A	T	1: 179,779,652	I699N	possibly damaging	Het
Arl11	C	A	14: 61,311,038	A99E	probably damaging	Het
Atp5o	G	A	16: 91,930,401	R16W	probably damaging	Het
AW551984	T	C	9: 39,599,325	H238R	probably null	Het
Bpifb9a	C	A	2: 154,266,813		probably benign	Het
Carhsp1	A	G	16: 8,663,713		probably benign	Het
Ccdc33	T	C	9: 58,030,419	D623G	probably damaging	Het
Chd6	C	A	2: 161,026,292	R378L	possibly damaging	Het
Chn2	T	C	6: 54,300,245		probably benign	Het
Clgn	T	G	8: 83,423,136	I422S	probably damaging	Het
Col15a1	T	A	4: 47,300,606		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,568,130	I470T	probably benign	Het
Dcaf11	T	A	14: 55,564,523		probably null	Het
Dnah1	G	T	14: 31,300,967	T1071K	probably benign	Het
Dnah2	T	A	11: 69,458,123	M2513L	probably benign	Het
Dqx1	A	G	6: 83,058,910		probably benign	Het
Gm1587	T	C	14: 77,798,842	E8G	unknown	Het
Hydin	T	C	8: 110,609,966	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,661,943	P60Q	probably damaging	Het
Itga7	T	G	10: 128,953,782	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,098,442	N857S	probably damaging	Het
Krt23	C	T	11: 99,492,664		probably benign	Het
Lrp1	T	C	10: 127,554,271	N3093S	probably benign	Het
Morn5	A	G	2: 36,057,076	D122G	probably damaging	Het
Mpp2	G	T	11: 102,063,262	L220I	probably benign	Het
Mrgpra6	A	T	7: 47,185,952	Y240*	probably null	Het
Mtmr12	T	C	15: 12,237,930	I165T	probably damaging	Het
Mylk2	C	A	2: 152,919,157	N428K	probably damaging	Het
Nfil3	A	G	13: 52,968,152	Y239H	probably damaging	Het
Notch1	A	G	2: 26,460,339	L2263P	probably damaging	Het
Olfr130	T	A	17: 38,067,267	I32N	probably damaging	Het
Olfr888	A	G	9: 38,109,129	M148V	probably benign	Het
P3h3	A	T	6: 124,853,092	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,680,053	Y324*	probably null	Het
Plcb2	C	A	2: 118,711,363	R922L	probably benign	Het
Pml	T	C	9: 58,247,003	T196A	probably benign	Het
Ppp2r1b	C	A	9: 50,861,609	Q65K	probably benign	Het
Ric8a	A	G	7: 140,862,357	T507A	probably benign	Het
Sec16a	A	G	2: 26,416,632		probably null	Het
Slc46a3	G	T	5: 147,886,234	T266N	probably damaging	Het
Smg1	A	G	7: 118,212,946	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,237,483	N1837K	probably benign	Het
Sptan1	A	G	2: 30,030,324	T2318A	probably damaging	Het
St7l	C	T	3: 104,874,832	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,538,211	R703C	probably damaging	Het
Urah	A	G	7: 140,836,886		probably benign	Het
Vmn1r42	A	T	6: 89,845,314	I91N	probably damaging	Het
Yy1	T	A	12: 108,814,599		probably benign	Het

Other mutations in Mms22l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Mms22l	APN	4	24502805	missense	probably damaging	1.00
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
R7757:Mms22l	UTSW	4	24598884	critical splice donor site	probably null
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
RF005:Mms22l	UTSW	4	24517207	missense	probably benign	0.26

Posted On

2015-04-16