Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01648:Mms22l'

102740

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01648

Quality Score

Status

Chromosome

Chromosomal Location

24496451-24602950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24502805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 59 (F59S)

Ref Sequence

ENSEMBL: ENSMUSP00000133658 (fasta)

Gene Model

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

AlphaFold

B1AUR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000050446
AA Change: F131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: F131S

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: F131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: F131S

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 damaging
Transcript: ENSMUST00000138567
AA Change: F131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134736
Gene: ENSMUSG00000045751
AA Change: F131S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154349

Predicted Effect

probably damaging
Transcript: ENSMUST00000172622
AA Change: F59S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133658
Gene: ENSMUSG00000045751
AA Change: F59S

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	G	5: 26,695,398 (GRCm39)		noncoding transcript	Het
Abca7	C	T	10: 79,846,914 (GRCm39)	S1664L	probably damaging	Het
Aebp1	G	T	11: 5,820,607 (GRCm39)	R499L	possibly damaging	Het
Agt	C	A	8: 125,291,145 (GRCm39)	S54I	probably benign	Het
Chic2	T	A	5: 75,187,860 (GRCm39)	S67C	probably damaging	Het
Col12a1	T	A	9: 79,508,451 (GRCm39)	*3066Y	probably null	Het
Fan1	A	G	7: 64,022,297 (GRCm39)	S319P	probably damaging	Het
Fgd5	C	T	6: 91,966,340 (GRCm39)	Q700*	probably null	Het
Frem2	T	A	3: 53,443,153 (GRCm39)	H2537L	possibly damaging	Het
Lingo1	C	A	9: 56,527,111 (GRCm39)	A493S	probably damaging	Het
Med20	A	G	17: 47,933,925 (GRCm39)	H180R	possibly damaging	Het
Megf8	T	C	7: 25,026,997 (GRCm39)	C152R	probably damaging	Het
Or4a39	A	T	2: 89,236,535 (GRCm39)	M296K	probably damaging	Het
Pgm5	T	C	19: 24,801,715 (GRCm39)	D171G	probably damaging	Het
Rbm47	A	T	5: 66,182,321 (GRCm39)	N437K	possibly damaging	Het
Tpra1	T	A	6: 88,886,653 (GRCm39)		probably benign	Het
Tradd	A	G	8: 105,986,418 (GRCm39)	L118S	probably damaging	Het
Trib1	G	T	15: 59,526,350 (GRCm39)	V307F	probably benign	Het
Vps50	T	A	6: 3,498,545 (GRCm39)	M8K	probably benign	Het
Xrcc6	A	T	15: 81,909,835 (GRCm39)	E238V	probably damaging	Het

Other mutations in Mms22l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Mms22l	APN	4	24,505,349 (GRCm39)	missense	probably damaging	0.98
IGL02533:Mms22l	APN	4	24,581,099 (GRCm39)	splice site	probably benign
IGL02612:Mms22l	APN	4	24,508,482 (GRCm39)	missense	probably benign	0.03
IGL02685:Mms22l	APN	4	24,591,133 (GRCm39)	missense	probably benign
IGL03000:Mms22l	APN	4	24,581,161 (GRCm39)	missense	probably damaging	0.99
IGL03006:Mms22l	APN	4	24,521,253 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Mms22l	UTSW	4	24,581,149 (GRCm39)	missense	probably benign	0.08
R0157:Mms22l	UTSW	4	24,588,224 (GRCm39)	missense	probably damaging	1.00
R0279:Mms22l	UTSW	4	24,497,867 (GRCm39)	missense	probably damaging	1.00
R0669:Mms22l	UTSW	4	24,517,223 (GRCm39)	missense	probably benign	0.00
R1056:Mms22l	UTSW	4	24,586,344 (GRCm39)	critical splice donor site	probably null
R1232:Mms22l	UTSW	4	24,536,274 (GRCm39)	missense	probably benign	0.24
R1389:Mms22l	UTSW	4	24,591,076 (GRCm39)	missense	probably damaging	1.00
R1543:Mms22l	UTSW	4	24,591,084 (GRCm39)	missense	probably benign	0.41
R1604:Mms22l	UTSW	4	24,502,804 (GRCm39)	missense	probably damaging	1.00
R1872:Mms22l	UTSW	4	24,598,807 (GRCm39)	missense	probably damaging	0.99
R1929:Mms22l	UTSW	4	24,535,936 (GRCm39)	unclassified	probably benign
R2024:Mms22l	UTSW	4	24,588,365 (GRCm39)	missense	probably damaging	1.00
R2081:Mms22l	UTSW	4	24,536,150 (GRCm39)	missense	probably damaging	1.00
R2104:Mms22l	UTSW	4	24,591,084 (GRCm39)	missense	probably benign	0.41
R2147:Mms22l	UTSW	4	24,580,063 (GRCm39)	nonsense	probably null
R2379:Mms22l	UTSW	4	24,496,929 (GRCm39)	missense	possibly damaging	0.87
R2496:Mms22l	UTSW	4	24,521,269 (GRCm39)	missense	probably benign	0.31
R3508:Mms22l	UTSW	4	24,586,224 (GRCm39)	missense	probably benign	0.01
R3625:Mms22l	UTSW	4	24,505,357 (GRCm39)	missense	probably damaging	1.00
R3789:Mms22l	UTSW	4	24,517,115 (GRCm39)	missense	possibly damaging	0.75
R4422:Mms22l	UTSW	4	24,503,008 (GRCm39)	missense	probably damaging	1.00
R4623:Mms22l	UTSW	4	24,502,792 (GRCm39)	nonsense	probably null
R4799:Mms22l	UTSW	4	24,580,052 (GRCm39)	critical splice acceptor site	probably null
R4825:Mms22l	UTSW	4	24,536,226 (GRCm39)	missense	probably damaging	1.00
R5236:Mms22l	UTSW	4	24,588,347 (GRCm39)	missense	probably benign	0.02
R5276:Mms22l	UTSW	4	24,578,774 (GRCm39)	missense	probably damaging	1.00
R5364:Mms22l	UTSW	4	24,496,882 (GRCm39)	unclassified	probably benign
R5394:Mms22l	UTSW	4	24,517,115 (GRCm39)	missense	possibly damaging	0.75
R6905:Mms22l	UTSW	4	24,503,107 (GRCm39)	missense	probably benign	0.00
R7206:Mms22l	UTSW	4	24,591,146 (GRCm39)	missense	probably benign	0.00
R7290:Mms22l	UTSW	4	24,517,139 (GRCm39)	missense	probably benign
R7425:Mms22l	UTSW	4	24,596,287 (GRCm39)	missense	probably benign	0.15
R7524:Mms22l	UTSW	4	24,536,138 (GRCm39)	missense	possibly damaging	0.89
R7536:Mms22l	UTSW	4	24,581,240 (GRCm39)	missense	probably damaging	0.99
R7722:Mms22l	UTSW	4	24,517,201 (GRCm39)	missense	probably damaging	1.00
R7757:Mms22l	UTSW	4	24,598,884 (GRCm39)	critical splice donor site	probably null
R7764:Mms22l	UTSW	4	24,598,842 (GRCm39)	missense	probably damaging	1.00
R7947:Mms22l	UTSW	4	24,505,373 (GRCm39)	missense	probably damaging	1.00
R8220:Mms22l	UTSW	4	24,536,375 (GRCm39)	missense	probably damaging	1.00
R8316:Mms22l	UTSW	4	24,578,855 (GRCm39)	missense	probably damaging	0.98
R8472:Mms22l	UTSW	4	24,502,943 (GRCm39)	missense	possibly damaging	0.86
R8495:Mms22l	UTSW	4	24,496,908 (GRCm39)	start codon destroyed	probably null	0.96
R8699:Mms22l	UTSW	4	24,507,363 (GRCm39)	missense	possibly damaging	0.72
R8795:Mms22l	UTSW	4	24,536,245 (GRCm39)	missense	probably benign	0.21
R8932:Mms22l	UTSW	4	24,533,029 (GRCm39)	missense	probably damaging	1.00
R8979:Mms22l	UTSW	4	24,580,070 (GRCm39)	missense	probably benign	0.01
R8996:Mms22l	UTSW	4	24,598,884 (GRCm39)	critical splice donor site	probably null
R9184:Mms22l	UTSW	4	24,596,182 (GRCm39)	missense	probably damaging	1.00
R9194:Mms22l	UTSW	4	24,600,185 (GRCm39)	nonsense	probably null
R9204:Mms22l	UTSW	4	24,581,153 (GRCm39)	missense	probably damaging	1.00
R9258:Mms22l	UTSW	4	24,588,238 (GRCm39)	missense	probably damaging	1.00
R9266:Mms22l	UTSW	4	24,578,878 (GRCm39)	missense	probably damaging	1.00
R9403:Mms22l	UTSW	4	24,580,204 (GRCm39)	critical splice donor site	probably null
R9788:Mms22l	UTSW	4	24,586,204 (GRCm39)	missense	probably benign	0.08
RF005:Mms22l	UTSW	4	24,517,207 (GRCm39)	missense	probably benign	0.26

Posted On

2014-01-21