Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Mms22l'

668914

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 #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24496451-24602950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24507363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 248 (L248F)

Ref Sequence

ENSEMBL: ENSMUSP00000057715 (fasta)

Gene Model

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

AlphaFold

B1AUR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050446
AA Change: L248F

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: L248F

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: L248F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: L248F

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

possibly damaging
Transcript: ENSMUST00000172622
AA Change: L176F

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133658
Gene: ENSMUSG00000045751
AA Change: L176F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,931,057	K82E	probably benign	Het
4933430I17Rik	T	C	4: 62,532,278	W30R	probably damaging	Het
Abca3	A	G	17: 24,408,225	D1555G	probably benign	Het
Anapc1	T	C	2: 128,641,453	T1241A	probably damaging	Het
Ano5	G	A	7: 51,593,771	V881I	probably benign	Het
Appl1	G	A	14: 26,940,255	S490L	probably benign	Het
Asxl3	A	G	18: 22,434,607	T81A	probably benign	Het
Bclaf1	T	C	10: 20,333,438	S754P	possibly damaging	Het
Bicra	G	T	7: 15,989,188	Q135K	probably benign	Het
Cad	T	C	5: 31,076,261	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,341,116	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,565,114	I59T	probably damaging	Het
Ccr6	C	T	17: 8,256,566	T201M	probably benign	Het
Cd5	A	G	19: 10,725,192	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,361	D1017E	probably damaging	Het
Cntnap4	A	T	8: 112,757,596	D427V	probably damaging	Het
Col4a4	T	A	1: 82,455,734	N1496I	unknown	Het
Crybg3	A	G	16: 59,554,928	Y274H	probably damaging	Het
Cubn	C	A	2: 13,383,959	S1479I	probably damaging	Het
Diras2	A	T	13: 52,508,107	C55S	probably damaging	Het
Dleu7	G	A	14: 62,292,830	R41C	probably benign	Het
Exo5	A	G	4: 120,921,996	I224T	probably damaging	Het
Fcho1	T	C	8: 71,709,633	I774V	possibly damaging	Het
Gclm	T	G	3: 122,266,323	S251A	possibly damaging	Het
Gm11639	A	G	11: 104,781,246	T1464A	probably benign	Het
Gm13889	T	C	2: 93,956,982	Q49R	unknown	Het
Gm35315	T	A	5: 110,080,526	H18L	probably benign	Het
Gm9949	G	A	18: 62,183,972	G65R	unknown	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gria4	C	A	9: 4,424,347	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351	Y838S	probably damaging	Het
Hrh3	A	G	2: 180,101,356	W160R	probably damaging	Het
Htr4	G	A	18: 62,437,692	A273T	probably damaging	Het
Lig3	G	T	11: 82,794,550	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,282,195	V1594E		Het
Map3k10	A	T	7: 27,668,355	V286D	probably damaging	Het
Map4k4	T	A	1: 39,976,750	V117E	unknown	Het
Mdga1	C	T	17: 29,842,374	V548M	possibly damaging	Het
Ncaph	T	C	2: 127,121,176	D379G	possibly damaging	Het
Neb	A	G	2: 52,147,234	V7064A	probably benign	Het
Neb	G	A	2: 52,212,551	T4570M	probably benign	Het
Npy5r	G	T	8: 66,681,622	T173K	probably damaging	Het
Olfr1002	A	T	2: 85,647,986	C112S	possibly damaging	Het
Olfr1037	A	T	2: 86,085,174	I201N	probably damaging	Het
Olfr1442	A	G	19: 12,674,882	M226V	probably benign	Het
Olfr1447	A	T	19: 12,901,464	F105L	possibly damaging	Het
Olfr622	A	T	7: 103,639,615	I175N	probably damaging	Het
Oxsm	A	G	14: 16,242,631	I46T	possibly damaging	Het
Pcdha1	A	T	18: 36,931,023	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,742,922	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,496,587	S304C	probably damaging	Het
Pramef6	A	T	4: 143,897,192	N137K	probably benign	Het
Ptprd	A	T	4: 76,041,392	F279I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rest	G	A	5: 77,281,542	G603R	probably benign	Het
Rgs17	A	T	10: 5,918,194	L9M	probably benign	Het
Rtp1	A	G	16: 23,431,383	Y166C	probably damaging	Het
Sec24b	C	A	3: 130,005,004	R572I	probably damaging	Het
Setd1a	G	T	7: 127,786,602	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,701,891	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stat4	T	A	1: 52,071,937	M181K	probably benign	Het
Stk16	A	G	1: 75,212,038	E67G	probably benign	Het
Supv3l1	A	G	10: 62,432,455	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,783,535	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,582,294		probably benign	Het
Tpr	T	A	1: 150,418,021	I922N	probably damaging	Het
Uaca	G	T	9: 60,871,065	L911F	probably damaging	Het
Ubn1	A	T	16: 5,063,703	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,911,377	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,606,655	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,808,809	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,178,760	N15K	probably benign	Het
Wdr46	T	A	17: 33,948,852	I513N	probably damaging	Het
Wdr60	T	C	12: 116,207,701	T972A	probably benign	Het
Zfp788	A	G	7: 41,648,416	N159D	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
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
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
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'- GTAATACGTGGACCCAAACTTG -3'
(R):5'- ACATCTAGCTCCCAGATATTAGTAACC -3'

Sequencing Primer
(F):5'- CTTGTGAGAATTGATACAATCTG -3'
(R):5'- GCTCCCAGATATTAGTAACCAAATAC -3'

Posted On

2021-04-30